Anemia, Sickle Cell
Hemoglobin, Sickle
Splenic Infarction
Kidney Papillary Necrosis
alpha-Thalassemia
Hemoglobin C
Erythrocytes, Abnormal
Hemoglobins, Abnormal
Hemoglobin A
Thalassemia
Hemoglobinopathies
Hemoglobin SC Disease
Jamaica
Fetal Hemoglobin
Hemoglobin A2
Hemoglobin C Disease
Glucosephosphate Dehydrogenase Deficiency
Hemoglobins
Erythrocytes
Antisickling Agents
Death, Sudden
Gabon
Malaria, Falciparum
Hyponatraemia: biochemical and clinical perspectives. (1/222)
Hyponatraemia is a common bio-chemical abnormality, occurring in about 15% of hospital inpatients. It is often associated with severe illness and relatively poor outcome. Pathophysiologically, hyponatraemia may be spurious, dilutional, depletional or redistributional. Particularly difficult causes and concepts of hyponatraemia are the syndrome of inappropriate antidiuresis and the sick cell syndrome, which are discussed here in detail. Therapy should always be targeted at the underlying disease process. 'Hyponatraemic symptoms' are of doubtful importance, and may be more related to water overload and/or the causative disease, than to hyponatraemia per se. Artificial elevation of plasma sodium by saline infusion carries the risk of induction of osmotic demyelination (central pontine myelinolysis). (+info)Malaria infection and morbidity in infants in relation to genetic polymorphisms in Tanzania. (2/222)
To investigate the effects of host polymorphisms on malaria morbidity and infection, the frequency distributions of TNF alpha promotor gene and sickle cell trait were studied in infants in an area highly endemic for Plasmodium falciparum transmission in Tanzania. Differences in parasite prevalence, density, febrile episodes with and without parasitaemia, PCV levels and the frequencies of different MSP-2 parasite infections were assessed by genotype. The frequency of the TNF alpha promotor allele 2 was 0.09, and the trait was in Hardy-Weinberg equilibrium. There were no differences in malariametric indices between infants with the normal TNF alpha promoter gene and those who were heterozygous for this trait. Infants heterozygous for the TNF alpha promotor gene appeared to have fewer febrile episodes when they were free of parasites. The two infants homozygous for the TNF alpha promoter allele 2 had both a much higher incidence of fever, independently of parasitaemia, than the average for the other genotypes. The frequency of the sickle cell allele S was 0.06 and the trait was also in Hardy-Weinberg equilibrium. Infants heterozygous for the sickle cell trait had significantly lower parasite densities, but similar prevalence, and MSP-2 infections compared to infants with normal haemoglobin. PCV levels, and the incidence of febrile episodes both with and without parasitaemia were also similar. In contrast to the sickle cell trait, the TNF alpha promotor polymorphism appeared not to have any protective effect on malaria in this study, and its importance in other unspecified fever-causing diseases in this population needs further investigation. (+info)Longitudinal study of Plasmodium falciparum infection and immune responses in infants with or without the sickle cell trait. (3/222)
BACKGROUND: Individuals may be homozygous (SS) or heterozygous (AS) sickle cell gene carriers or have normal adult haemoglobin (AA). Haemoglobin S could have a protective role against malaria but evidence is sparse and the operating mechanisms are poorly known. METHODS: We followed two cohorts of children. The first was enrolled at birth (156 newborn babies) and the second at 24-36 months old (84 children). Both cohorts were followed for 30 months; monthly for parasitological data and half yearly for immunological data. RESULTS: In the first cohort, 22%, and in the second 13% of children were AS. Whatever their age parasite prevalence rates were similar in AA and AS individuals. Mean parasite densities increased less rapidly with age in AS than in AA children, and were significantly lower in AS than in AA children >48 months old. The AA children tended to be more often admitted to hospital than AS children (22% versus 11%, NS). Both anti-Plasmodium falciparum and anti-Pfl55/RESA antibody rates increased more rapidly in AA than in AS children. Conversely, the prevalence rate of cellular responders to the Pfl55/RESA antigen was similar in AA and AS children during the first 2 years of life, then it was higher in AS than in AA children. CONCLUSIONS: Sickle cell trait related antimalarial protection varies with age. The role of the modifications of the specific immune response to P. falciparum in explaining the protection of AS children against malaria is discussed. (+info)Pallister-Hall syndrome: clinical and MR features. (4/222)
A 4-month-old boy with polydactyly and bifid epiglottis was found to have a large sellar and suprasellar mass. When the diagnosis of Pallister-Hall syndrome was made, conservative management was elected. When the patient was 2 years old, the tumor had grown proportionally with the patient, and he was developing appropriately. Although rare, this entity is important to recognize not only for clinical diagnosis but also for appropriate management and genetic counseling. (+info)Effectiveness of pneumococcal polysaccharide vaccine for preschool-age children with chronic disease. (5/222)
To estimate the effectiveness of pneumococcal polysaccharide vaccine, we serotyped isolates submitted to the Pneumococcal Sentinel Surveillance System from 1984 to 1996 from 48 vaccinated and 125 unvaccinated children 2 to 5 years of age. Effectiveness against invasive disease caused by serotypes included in the vaccine was 63%. Effectiveness against serotypes in the polysaccharide vaccine but not in a proposed seven-valent protein conjugate vaccine was 94%. (+info)The role of red blood cell polymorphisms in resistance and susceptibility to malaria. (6/222)
In regions highly endemic for Plasmodium falciparum malaria, red cell polymorphisms that confer resistance to severe disease are widespread. Sickle cell trait, alpha-thalassemia, glucose-6-phosphate dehydrogenase deficiency, and blood groups were determined in 100 children from Gabon with severe malaria who were matched with 100 children with mild malaria and followed up for evaluation of reinfections. The sickle cell trait was significantly associated with mild malaria and blood group A with severe malaria. During follow-up, the original severe cases had significantly higher rates of reinfection than the original mild cases, with higher parasitemia and lower hematocrit values. Incidence rates did not differ in the context of erythrocyte polymorphisms, but patients with sickle cell trait presented with markedly lower levels of parasitemia than those without. Thus, the severity of malaria is partly determined by the presence of blood group A and the sickle cell trait. The different presentation of reinfections in severe versus mild cases probably reflects different susceptibility to malaria. (+info)Human genetic factors related to susceptibility to mild malaria in Gabon. (7/222)
Several human genetic factors, including red blood cell polymorphisms (ABO blood group, sickle-cell trait, G6PD deficiency) as well as point mutations in the mannose binding protein (MBP) and in the promoter regions of both the TNF-alpha and NOS2 genes, influence the severity of disease due to infection with Plasmodium falciparum. We assessed their impact on mild P. falciparum malaria, as part of a longitudinal investigation of clinical, parasitological and immunological parameters in a cohort of 300 Gabonese schoolchildren. We found the following frequencies: blood group O (0.54), sickle-cell trait (0.23), G6PD deficiency (0.09), MBP gene mutations (0.34), TNF-alpha promoter mutations (at positions -238: 0.17 and -308: 0.22) and NOS2 promoter mutation (0.18). Blood group O or hemoglobin AA were associated with protection against higher parasitemia. Girls with normal G6PD enzyme activity were protected against clinical malaria attacks. In addition, we demonstrated for the first time that the mutation at position -238 of the gene coding for the promoter region of TNF-alpha was positively correlated with the level of the antibody response specific for epitopes of the antigens MSA-2 and RAP-1 of P. falciparum. (+info)Social information processing and magnetic resonance imaging in children with sickle cell disease. (8/222)
OBJECTIVE: To examine social information processing, social skills, and adjustment difficulties in children with sickle cell disease (SCD) as rated by caregivers, teachers, and the children themselves. Children were classified in two groups: cerebral vascular accidents (CVA) (n = 21) or without central nervous system (CNS) pathology (n = 20) on magnetic resonance imaging (MRI). Both groups had HbSS SCD. We compared these two groups and a third group of 11 children who had a milder type of SCD (HbSC). METHODS: Participants referred for evaluation of learning and behavior problems were administered MRIs to ascertain the presence of pathology and a series of measures designed to assess nonverbal emotional decoding abilities and ratings of social emotional functioning. RESULTS: Children with CVA displayed more errors on tasks of facial and vocal emotional decoding than did comparison controls without CVA. CONCLUSIONS: Acquired neurological impairments in children with SCD seemed to be associated with difficulties in the decoding of emotions of other children and adults. We recommend that future research integrate neuropsychological and psychosocial research programs for pediatric chronic illness groups. (+info)Sickle cell trait is a genetic condition where an individual inherits one abnormal gene for hemoglobin S (HbS) from one parent and one normal gene for hemoglobin A (HbA) from the other parent. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body.
People with sickle cell trait do not have sickle cell disease, but they can pass the abnormal HbS gene on to their children. In certain situations, such as high altitude, low oxygen levels, or intense physical exertion, individuals with sickle cell trait may experience symptoms similar to those of sickle cell disease, such as fatigue, pain, and shortness of breath. However, these symptoms are typically milder and less frequent than in people with sickle cell disease.
It is important for individuals who know they have sickle cell trait to inform their healthcare providers, especially if they become pregnant or plan to engage in activities that may cause low oxygen levels, such as scuba diving or high-altitude climbing.
Sickle cell anemia is a genetic disorder that affects the hemoglobin in red blood cells. Hemoglobin is responsible for carrying oxygen throughout the body. In sickle cell anemia, the hemoglobin is abnormal and causes the red blood cells to take on a sickle shape, rather than the normal disc shape. These sickled cells are stiff and sticky, and they can block blood vessels, causing tissue damage and pain. They also die more quickly than normal red blood cells, leading to anemia.
People with sickle cell anemia often experience fatigue, chronic pain, and jaundice. They may also have a higher risk of infections and complications such as stroke, acute chest syndrome, and priapism. The disease is inherited from both parents, who must both be carriers of the sickle cell gene. It primarily affects people of African descent, but it can also affect people from other ethnic backgrounds.
There is no cure for sickle cell anemia, but treatments such as blood transfusions, medications to manage pain and prevent complications, and bone marrow transplantation can help improve quality of life for affected individuals. Regular medical care and monitoring are essential for managing the disease effectively.
Hemoglobin S (HbS) is a genetic variant of hemoglobin, which is the oxygen-carrying protein in red blood cells. This abnormal form of hemogllobin results from a mutation in the beta-globin gene, leading to the substitution of valine for glutamic acid at position six of the beta-globin chain.
In individuals with sickle cell disease (a group of inherited red blood cell disorders), both copies of their beta-globin genes carry this mutation, causing the majority of their hemoglobin to be HbS. When deoxygenated, HbS molecules have a tendency to polymerize and form long, rigid rods within the red blood cells, distorting their shape into a characteristic sickle or crescent form.
These sickled red blood cells are less flexible and more prone to rupture (hemolysis), leading to chronic anemia, vaso-occlusive crises, and other disease complications. Sickle cell disease primarily affects people of African, Mediterranean, Middle Eastern, and Indian ancestry, but it can also be found in other populations worldwide.
Splenic infarction is the death of splenic tissue due to blockage of its arterial supply or, less commonly, its venous drainage. This results in ischemia and necrosis of the affected portion of the spleen. The most common cause is embolism from a distant source such as atrial fibrillation, infective endocarditis, or malignancy. Other causes include splenic artery thrombosis, sickle cell disease, hematologic disorders, and trauma. Clinical presentation can vary widely, ranging from being asymptomatic to acute abdominal pain, nausea, vomiting, and fever. Diagnosis is often made with imaging studies such as ultrasound or CT scan. Treatment depends on the underlying cause and severity of symptoms, but may include anticoagulation, antibiotics, or surgical intervention in severe cases.
Kidney papillary necrosis is a medical condition characterized by the death (necrosis) of the renal papillae, which are the small conical projections at the ends of the renal tubules in the kidneys. This condition typically occurs due to reduced blood flow to the kidneys or as a result of toxic injury from certain medications, chronic infections, diabetes, sickle cell disease, and systemic vasculitides.
The necrosis of the papillae can lead to the formation of small stones or debris that can obstruct the flow of urine, causing further damage to the kidneys. Symptoms of kidney papillary necrosis may include fever, flank pain, nausea, vomiting, and bloody or foul-smelling urine. The diagnosis is typically made through imaging studies such as CT scans or MRI, and treatment may involve addressing the underlying cause, administering antibiotics to prevent infection, and providing supportive care to maintain kidney function.
Alpha-thalassemia is a genetic disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen throughout the body. It is caused by deletions or mutations in the genes that produce the alpha-globin chains of hemoglobin.
There are several types of alpha-thalassemia, ranging from mild to severe. The most severe form, called hydrops fetalis, occurs when all four alpha-globin genes are deleted or mutated. This can cause stillbirth or death shortly after birth due to heart failure and severe anemia.
Less severe forms of alpha-thalassemia can cause mild to moderate anemia, which may be asymptomatic or associated with symptoms such as fatigue, weakness, and jaundice. These forms of the disorder are more common in people from Mediterranean, Southeast Asian, and African backgrounds.
Treatment for alpha-thalassemia depends on the severity of the condition and may include blood transfusions, iron chelation therapy, or occasionally stem cell transplantation.
Hemoglobin C is a type of hemoglobin variant, which is the oxygen-carrying protein in red blood cells. Hemoglobin C is caused by a specific genetic mutation that results in the substitution of lysine for glutamic acid at position 6 on the beta globin chain of the hemoglobin molecule.
This variant is often associated with a benign condition known as hemoglobin C trait, where an individual inherits one copy of the mutated gene from one parent and one normal gene from the other parent. People with this trait usually have no symptoms or only mild anemia, if any. However, if an individual inherits two copies of the Hemoglobin C gene (one from each parent), they will have a more severe form of hemoglobin disorder called Hemoglobin CC disease, which can cause mild to moderate hemolytic anemia and other complications.
It's important to note that Hemoglobin C is most commonly found in people of West African descent, but it can also occur in other populations with African ancestry.
Hyphema is defined as the presence of blood in the anterior chamber of the eye, which is the space between the cornea and the iris. This condition usually results from trauma or injury to the eye, but it can also occur due to various medical conditions such as severe eye inflammation, retinal surgery, or blood disorders that affect clotting.
The blood in the anterior chamber can vary in amount, ranging from a few drops to a complete fill, which is called an "eight-ball hyphema." Hyphema can be painful and cause sensitivity to light (photophobia), blurred vision, or even loss of vision if not treated promptly.
Immediate medical attention is necessary for hyphema to prevent complications such as increased intraocular pressure, corneal blood staining, glaucoma, or cataracts. Treatment options may include bed rest, eye drops to reduce inflammation and control intraocular pressure, and sometimes surgery to remove the blood from the anterior chamber.
Abnormal erythrocytes refer to red blood cells that have an abnormal shape, size, or other characteristics. This can include various types of abnormalities such as:
1. Anisocytosis: Variation in the size of erythrocytes.
2. Poikilocytosis: Variation in the shape of erythrocytes, including but not limited to teardrop-shaped cells (dacrocytes), crescent-shaped cells (sickle cells), and spherical cells (spherocytes).
3. Anemia: A decrease in the total number of erythrocytes or a reduction in hemoglobin concentration, which can result from various underlying conditions such as iron deficiency, chronic disease, or blood loss.
4. Hemoglobinopathies: Abnormalities in the structure or function of hemoglobin, the protein responsible for carrying oxygen in erythrocytes, such as sickle cell anemia and thalassemia.
5. Inclusion bodies: Abnormal structures within erythrocytes, such as Heinz bodies (denatured hemoglobin) or Howell-Jolly bodies (nuclear remnants).
These abnormalities can be detected through a complete blood count (CBC) and peripheral blood smear examination. The presence of abnormal erythrocytes may indicate an underlying medical condition, and further evaluation is often necessary to determine the cause and appropriate treatment.
Abnormal hemoglobins refer to variants of the oxygen-carrying protein found in red blood cells, which differ from the normal adult hemoglobin (HbA) in terms of their structure and function. These variations can result from genetic mutations that affect the composition of the globin chains in the hemoglobin molecule. Some abnormal hemoglobins are clinically insignificant, while others can lead to various medical conditions such as hemolytic anemia, thalassemia, or sickle cell disease. Examples of abnormal hemoglobins include HbS (associated with sickle cell anemia), HbC, HbE, and HbF (fetal hemoglobin). These variants can be detected through specialized laboratory tests, such as hemoglobin electrophoresis or high-performance liquid chromatography (HPLC).
Hemoglobin A is the most common form of hemoglobin, which is the oxygen-carrying protein in red blood cells. Hemoglobin A is a tetramer composed of two alpha and two beta globin chains, each containing a heme group that binds to oxygen. It is typically measured in laboratory tests to assess for various medical conditions such as anemia or diabetes. In the context of diabetes, the measurement of hemoglobin A1c (a form of hemoglobin A that is glycated or bound to glucose) is used to monitor long-term blood sugar control.
Thalassemia is a group of inherited genetic disorders that affect the production of hemoglobin, a protein in red blood cells responsible for carrying oxygen throughout the body. The disorder results in less efficient or abnormal hemoglobin, which can lead to anemia, an insufficient supply of oxygen-rich red blood cells.
There are two main types of Thalassemia: alpha and beta. Alpha thalassemia occurs when there is a problem with the alpha globin chain production, while beta thalassemia results from issues in beta globin chain synthesis. These disorders can range from mild to severe, depending on the number of genes affected and their specific mutations.
Severe forms of Thalassemia may require regular blood transfusions, iron chelation therapy, or even a bone marrow transplant to manage symptoms and prevent complications.
Hemoglobinopathies are a group of genetic disorders characterized by structural or functional abnormalities of the hemoglobin molecule in red blood cells. Hemoglobin is a complex protein that plays a crucial role in carrying oxygen throughout the body. The two most common types of hemoglobinopathies are sickle cell disease and thalassemia.
In sickle cell disease, a single mutation in the beta-globin gene results in the production of an abnormal form of hemoglobin called hemoglobin S (HbS). When deoxygenated, HbS molecules tend to aggregate and form long polymers, causing the red blood cells to become sickle-shaped, rigid, and fragile. These abnormally shaped cells can block small blood vessels, leading to tissue damage, chronic pain, organ dysfunction, and other serious complications.
Thalassemias are a heterogeneous group of disorders caused by mutations in the genes that regulate the production of alpha- or beta-globin chains. These mutations result in reduced or absent synthesis of one or more globin chains, leading to an imbalance in hemoglobin composition and structure. This imbalance can cause premature destruction of red blood cells (hemolysis), resulting in anemia, jaundice, splenomegaly, and other symptoms.
Hemoglobinopathies are typically inherited in an autosomal recessive manner, meaning that affected individuals have two copies of the abnormal gene – one from each parent. Carriers of a single abnormal gene usually do not show any signs or symptoms of the disorder but can pass the abnormal gene on to their offspring.
Early diagnosis and appropriate management of hemoglobinopathies are essential for improving quality of life, reducing complications, and increasing survival rates. Treatment options may include blood transfusions, iron chelation therapy, antibiotics, pain management, and, in some cases, bone marrow transplantation or gene therapy.
Hemoglobin SC disease, also known as sickle cell-C disease or SC disorder, is a genetic blood disorder that is a variant of sickle cell anemia. It is caused by the presence of both hemoglobin S (HbS) and hemoglobin C (HbC) in the red blood cells.
Hemoglobin is the protein in red blood cells that carries oxygen throughout the body. In Hemoglobin SC disease, the abnormal HbS and HbC proteins can cause the red blood cells to become rigid, sticky, and C-shaped (sickled), which can lead to blockages in small blood vessels.
Symptoms of Hemoglibin SC disease may include anemia, fatigue, jaundice, episodes of pain (known as sickle cell crises), and an increased risk of infection. The severity of the symptoms can vary widely from person to person. Treatment typically focuses on managing symptoms and preventing complications, and may include medications, blood transfusions, and sometimes a bone marrow transplant.
I'm sorry for any confusion, but "Jamaica" is not a medical term. It is a country located in the Caribbean Sea, known for its beautiful beaches, vibrant culture, and as the birthplace of reggae music. If you have any questions about medical terms or concepts, I would be happy to help answer those!
Fetal hemoglobin (HbF) is a type of hemoglobin that is produced in the fetus and newborn babies. It is composed of two alpha-like globin chains and two gamma-globin chains, designated as α2γ2. HbF is the primary form of hemoglobin during fetal development, replacing the embryonic hemoglobin (HbG) around the eighth week of gestation.
The unique property of HbF is its higher affinity for oxygen compared to adult hemoglobin (HbA), which helps ensure adequate oxygen supply from the mother to the developing fetus. After birth, as the newborn starts breathing on its own and begins to receive oxygen directly, the production of HbF gradually decreases and is usually replaced by HbA within the first year of life.
In some genetic disorders like sickle cell disease and beta-thalassemia, persistence of HbF into adulthood can be beneficial as it reduces the severity of symptoms due to its higher oxygen-carrying capacity and less polymerization tendency compared to HbS (in sickle cell disease) or unpaired alpha chains (in beta-thalassemia). Treatments like hydroxyurea are used to induce HbF production in these patients as a therapeutic approach.
Hemoglobin A2 is a type of hemoglobin that is found in human red blood cells. Hemoglobin is the protein in red blood cells that carries oxygen throughout the body. Hemoglobin A2 is made up of two alpha-like globin chains and two delta-globin chains, and it accounts for approximately 1.5 to 3.5% of the total hemoglobin in adult humans.
Hemoglobin A2 is not normally present in significant amounts until after a child has passed through their first year of life. Its level remains relatively constant throughout adulthood, and it is often used as a diagnostic marker for certain types of anemia, such as beta-thalassemia. In people with beta-thalassemia, the production of beta-globin chains is reduced or absent, leading to an increase in the relative proportion of Hemoglobin A2 and Hemoglobin F (fetal hemoglobin) in the red blood cells.
It's important to note that Hemoglobin A2 measurement alone is not enough for a definitive diagnosis of beta-thalassemia, but it can be used as a supportive test along with other investigations such as complete blood count (CBC), hemoglobin electrophoresis and molecular genetic testing.
Hemoglobin C disease is a genetic disorder that affects the structure and function of hemoglobin, a protein in red blood cells responsible for carrying oxygen throughout the body. The disease is caused by a mutation in the gene that produces the beta-globin chain of hemoglobin, resulting in the production of an abnormal form of hemoglobin called Hemoglobin C (HbC).
People with Hemoglobin C disease inherit one copy of the HbC gene from each parent. This means they have two copies of the mutated gene and produce mostly Hemoglobin C, instead of the normal Hemoglobin A. The presence of Hemoglobin C can cause the red blood cells to become rigid and fragile, leading to a condition called hemolytic anemia.
Symptoms of Hemoglobin C disease may include fatigue, weakness, shortness of breath, pale skin, jaundice, and dark urine. The severity of the symptoms can vary widely from person to person, with some individuals experiencing mild symptoms and others having more severe complications.
Hemoglobin C disease is a chronic condition that requires ongoing medical management, including regular monitoring of hemoglobin levels, iron status, and other blood parameters. Treatment may include blood transfusions, folic acid supplementation, and medications to manage symptoms such as anemia and pain.
It's important to note that Hemoglobin C disease is not the same as sickle cell disease, which is another genetic disorder that affects hemoglobin structure and function. While both conditions can cause hemolytic anemia, they are caused by different mutations in the beta-globin gene and have distinct clinical features and management approaches.
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is a genetic disorder that affects the normal functioning of an enzyme called G6PD. This enzyme is found in red blood cells and plays a crucial role in protecting them from damage.
In people with G6PD deficiency, the enzyme's activity is reduced or absent, making their red blood cells more susceptible to damage and destruction, particularly when they are exposed to certain triggers such as certain medications, infections, or foods. This can lead to a condition called hemolysis, where the red blood cells break down prematurely, leading to anemia, jaundice, and in severe cases, kidney failure.
G6PD deficiency is typically inherited from one's parents in an X-linked recessive pattern, meaning that males are more likely to be affected than females. While there is no cure for G6PD deficiency, avoiding triggers and managing symptoms can help prevent complications.
Hemoglobin (Hb or Hgb) is the main oxygen-carrying protein in the red blood cells, which are responsible for delivering oxygen throughout the body. It is a complex molecule made up of four globin proteins and four heme groups. Each heme group contains an iron atom that binds to one molecule of oxygen. Hemoglobin plays a crucial role in the transport of oxygen from the lungs to the body's tissues, and also helps to carry carbon dioxide back to the lungs for exhalation.
There are several types of hemoglobin present in the human body, including:
* Hemoglobin A (HbA): This is the most common type of hemoglobin, making up about 95-98% of total hemoglobin in adults. It consists of two alpha and two beta globin chains.
* Hemoglobin A2 (HbA2): This makes up about 1.5-3.5% of total hemoglobin in adults. It consists of two alpha and two delta globin chains.
* Hemoglobin F (HbF): This is the main type of hemoglobin present in fetal life, but it persists at low levels in adults. It consists of two alpha and two gamma globin chains.
* Hemoglobin S (HbS): This is an abnormal form of hemoglobin that can cause sickle cell disease when it occurs in the homozygous state (i.e., both copies of the gene are affected). It results from a single amino acid substitution in the beta globin chain.
* Hemoglobin C (HbC): This is another abnormal form of hemoglobin that can cause mild to moderate hemolytic anemia when it occurs in the homozygous state. It results from a different single amino acid substitution in the beta globin chain than HbS.
Abnormal forms of hemoglobin, such as HbS and HbC, can lead to various clinical disorders, including sickle cell disease, thalassemia, and other hemoglobinopathies.
Erythrocytes, also known as red blood cells (RBCs), are the most common type of blood cell in circulating blood in mammals. They are responsible for transporting oxygen from the lungs to the body's tissues and carbon dioxide from the tissues to the lungs.
Erythrocytes are formed in the bone marrow and have a biconcave shape, which allows them to fold and bend easily as they pass through narrow blood vessels. They do not have a nucleus or mitochondria, which makes them more flexible but also limits their ability to reproduce or repair themselves.
In humans, erythrocytes are typically disc-shaped and measure about 7 micrometers in diameter. They contain the protein hemoglobin, which binds to oxygen and gives blood its red color. The lifespan of an erythrocyte is approximately 120 days, after which it is broken down in the liver and spleen.
Abnormalities in erythrocyte count or function can lead to various medical conditions, such as anemia, polycythemia, and sickle cell disease.
Rhabdomyolysis is a medical condition characterized by the breakdown and degeneration of skeletal muscle fibers, leading to the release of their intracellular contents into the bloodstream. This can result in various complications, including electrolyte imbalances, kidney injury or failure, and potentially life-threatening conditions if not promptly diagnosed and treated.
The process of rhabdomyolysis typically involves three key components:
1. Muscle injury: Direct trauma, excessive exertion, prolonged immobilization, infections, metabolic disorders, toxins, or medications can cause muscle damage, leading to the release of intracellular components into the bloodstream.
2. Release of muscle contents: When muscle fibers break down, they release various substances, such as myoglobin, creatine kinase (CK), lactate dehydrogenase (LDH), aldolase, and potassium ions. Myoglobin is a protein that can cause kidney damage when present in high concentrations in the bloodstream, particularly when it is filtered through the kidneys and deposits in the renal tubules.
3. Systemic effects: The release of muscle contents into the bloodstream can lead to various systemic complications, such as electrolyte imbalances (particularly hyperkalemia), acidosis, hypocalcemia, and kidney injury or failure due to myoglobin-induced tubular damage.
Symptoms of rhabdomyolysis can vary widely depending on the severity and extent of muscle damage but may include muscle pain, weakness, swelling, stiffness, dark urine, and tea-colored or cola-colored urine due to myoglobinuria. In severe cases, patients may experience symptoms related to kidney failure, such as nausea, vomiting, fatigue, and decreased urine output.
Diagnosis of rhabdomyolysis typically involves measuring blood levels of muscle enzymes (such as CK and LDH) and evaluating renal function through blood tests and urinalysis. Treatment generally focuses on addressing the underlying cause of muscle damage, maintaining fluid balance, correcting electrolyte imbalances, and preventing or managing kidney injury.
Antisickling agents are medications or substances that help prevent or reduce the sickling of red blood cells in individuals with sickle cell disease. Sickling is a pathological process where the normally disc-shaped red blood cells become crescent-shaped due to abnormal hemoglobin (HbS). This change in shape can lead to blockages in small blood vessels, causing tissue damage and various complications such as pain crises, acute chest syndrome, and stroke.
Antisickling agents work by either inhibiting the polymerization of HbS or improving the oxygen-carrying capacity of red blood cells. The most commonly used antisickling agent is hydroxyurea, which increases the production of fetal hemoglobin (HbF) in red blood cells. HbF has a higher affinity for oxygen than HbS and can prevent the polymerization of HbS, thereby reducing sickling. Other antisickling agents include:
1. L-glutamine: An amino acid that helps maintain the structural integrity of red blood cells and reduces oxidative stress.
2. Arginate: A salt of arginine, an amino acid that helps improve nitric oxide production and vasodilation, reducing sickling.
3. Senicapoc: A drug that inhibits the formation of HbS polymers by blocking the interaction between HbS molecules.
4. Voxelotor (Oxbryta): A medication that binds to HbS and stabilizes it in its oxygenated state, reducing sickling.
These antisickling agents can help alleviate symptoms, decrease the frequency of pain crises, and improve the quality of life for individuals with sickle cell disease. However, they should be used under the supervision of a healthcare professional, as each has its benefits, risks, and potential side effects.
Sudden death is a term used to describe a situation where a person dies abruptly and unexpectedly, often within minutes to hours of the onset of symptoms. It is typically caused by cardiac or respiratory arrest, which can be brought on by various medical conditions such as heart disease, stroke, severe infections, drug overdose, or trauma. In some cases, the exact cause of sudden death may remain unknown even after a thorough post-mortem examination.
It is important to note that sudden death should not be confused with "sudden cardiac death," which specifically refers to deaths caused by the abrupt loss of heart function (cardiac arrest). Sudden cardiac death is often related to underlying heart conditions such as coronary artery disease, cardiomyopathy, or electrical abnormalities in the heart.
I'm sorry for any confusion, but "Gabon" is not a medical term. It is the name of a country located in Central Africa, known officially as the Gabonese Republic. If you have any questions about medical terminology or health-related topics, I would be happy to help with those!
Malaria, Falciparum is defined as a severe and often fatal form of malaria caused by the parasite Plasmodium falciparum. It is transmitted to humans through the bites of infected Anopheles mosquitoes. This type of malaria is characterized by high fever, chills, headache, muscle and joint pain, and vomiting. If left untreated, it can cause severe anemia, kidney failure, seizures, coma, and even death. It is a major public health problem in many tropical and subtropical regions of the world, particularly in Africa.
Sickle cell trait
New York Blood Center
Hematuria
Al-Muhamashīn
Yemen
Demographics of Yemen
Anthony Clifford Allison
Hemoglobin A2
Dock Ellis
John Brown (wide receiver)
Anaplastic lymphoma kinase
Geno Atkins
Renal medullary carcinoma
Plasmodium falciparum
Hereditary persistence of fetal hemoglobin
Andre McGee
Fatalities in mixed martial arts contests
Hemoglobin O
List of hematologic conditions
Sickle cell disease
Malaria
Kleihauer-Betke test
Renal cortical necrosis
Sickle cell nephropathy
Microhematuria
Evolutionary medicine
Normocytic anemia
Situs ambiguus
Hemoglobin A
Koch's postulates
Sickle cell trait - Wikipedia
Is Caregiver Education About Sickle Cell Trait Effective?
https://www.cdc.gov/ncbddd/sicklecell/documents/fs glaucoma prov.pdf
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Reminder on sickle cell trait, possessed by Geno Atkins as Bengals prepare for Denver - Cincy Jungle
Sickle cell trait is not associated with an increased risk of heart failure or abnormalities of cardiac structure and function<...
Sickle Cell Anemia: Types, Symptoms, and Treatment
For Patients: Sickle Cell Trait | oneSCDvoice
Having the Trait - Sickle Cell Speaks
Sickle Cell (Disease & Trait) - 𝗗𝗜𝗔𝗚𝗡𝗢𝗦𝗜𝗦 𝟭𝟮𝟯
Sickle Cell Trait Screening - Meharry Medical College
Beta Thalassemia: Practice Essentials, Etiology, Epidemiology
MMWR News Synopsis for December 11, 2014 | CDC Online Newsroom | CDC
Blood Assurance Offers Sickle Cell Trait Testing - Davidson County Source
Pulmonary function in sickle cell trait<...
Sickle Cell Disease and Sickle Cell Trait - SCDAA Brochure | oneSCDvoice
What It Means to Have Sickle Cell Trait | Sickle Cell Disease
Differentiate between sickle cell anaemia and sickle cell trait. - ATIKA SCHOOL
Find NHLBI Clinical Trials | NHLBI, NIH
How Can Patients With Sickle Cell Trait Lessen RMC Risk? - Patient Empowerment Network
Sickle Cell Disease: Know the Facts
Study: Sickle cell trait does not increase heart disease risk in African Americans | Znan
Diversity, Equity & Inclusion (DEI) - 23andMe
Characterizing stiffness of sickle cell trait red blood cells under strenuous exercise conditions<...
Thalassemia16
- Doctors also use the test to find out if someone has sickle cell disease , thalassemia, or other health problems that affect the blood. (akronchildrens.org)
- If one parent has SCT and the other parent has another abnormal hemoglobin gene (like hemoglobin C trait or beta- thalassemia trait), each of their children has a · 1 in 2 (50%) chance of having SCT. (cdc.gov)
- Sickle beta-zero thalassemia is the fourth type of sickle cell disease. (healthline.com)
- Milder forms of SCD exist, when one Sickle Cell gene combines with genes from other inherited diseases of the RBC, like Thalassemia . (diagnosis123.com)
- In the heterozygous state, the beta thalassemia trait (ie, thalassemia minor) causes mild to moderate microcytic anemia. (medscape.com)
- Treatment for patients with thalassemia major includes long-term transfusion therapy, iron chelation, splenectomy, allogeneic hematopoietic stem cell transplantation, gene therapy, and supportive measures. (medscape.com)
- Peripheral smear in beta-zero thalassemia minor showing microcytes (M), target cells (T), and poikilocytes. (medscape.com)
- Peripheral smear in beta-zero thalassemia minor showing microcytes (M), target cells (T), and poikilocytes.The genetic defect usually is a missense or nonsense mutation in the beta-globin gene, although occasional defects due to gene deletions of the beta-globin gene and surrounding regions also have been reported. (medscape.com)
- In beta thalassemia minor (ie, beta thalassemia trait or heterozygous carrier-type), one of the beta-globin genes is defective, resulting in an approximately 50% decrease in the synthesis of the beta-globin protein. (medscape.com)
- Some individuals inherit a sickle trait from one parent and another trait such as hemoglobin C or thalassemia from the other, causing Hb SC disease and hemoglobin S-thalassemia. (medstarhealth.org)
- There are three common types of sickle cell disease in the United States: Hemoglobin SS or sickle cell anemia, Hemoglobin SC disease, and Hemoglobin Sickle beta-thalassemia. (mo.gov)
- Negative epistasis between the malaria-protective effects of alpha+-thalassemia and the sickle cell trait. (ox.ac.uk)
- Homozygous sickle cell disease (SS disease), sickle cell C disease (SC disease), and sickle cell-thalassemia disease (S-Thal disease) are common hemoglobinopathies that can present with mild-to-severe proliferative retinal findings. (medscape.com)
- BACKGROUND: Individually, the red blood cell (RBC) polymorphisms sickle cell trait (HbAS) and α+thalassemia protect against severe Plasmodium falciparum malaria. (ox.ac.uk)
- thalassemia major or thalassemia trait and hemoglobin E (HbE) are the second most common, 1 1 Wahed A, Quesada A, Dasgupta A. Hemoglobinopathies and Thalassemias. (scielo.br)
- Someone who inherits hemoglobin S from one parent and another type of abnormal hemoglobin from the other parent will have another form of sickle cell disease, such as sickle cell-b 0 thalassemia, hemoglobin SC disease, or sickle cell-b + thalassemia. (health.am)
Disease97
- Sickle cell trait describes a condition in which a person has one abnormal allele of the hemoglobin beta gene (is heterozygous), but does not display the severe symptoms of sickle cell disease that occur in a person who has two copies of that allele (is homozygous). (wikipedia.org)
- Sickle cell disease is a blood disorder wherein there is a single amino acid substitution in the hemoglobin protein of the red blood cells, which causes these cells to assume a sickle shape, especially when under low oxygen tension. (wikipedia.org)
- Sickling and sickle cell disease also confer some resistance to malaria parasitization of red blood cells, so that individuals with sickle-cell trait (heterozygotes) have a selective advantage in environments where malaria is present. (wikipedia.org)
- For example, in November 2010, Dr. Jeffery K. Taubenberger of the National Institutes of Health discovered the earliest proof of sickle-cell disease while looking for the virus of the 1918 flu during the autopsy of an African-American soldier. (wikipedia.org)
- There have been calls to reclassify sickle cell trait as a disease state, based on its malignant clinical presentations. (wikipedia.org)
- About 100,000 people in the U.S. have sickle cell disease. (pfizer.com)
- But having sickle cell trait (SCT) is not the same as having sickle cell disease (SCD). (pfizer.com)
- What is the difference between having sickle cell trait and sickle cell disease? (pfizer.com)
- People with sickle cell disease have red blood cells that are crescent (or sickle) shaped. (pfizer.com)
- There are many forms of sickle cell disease, including sickle cell anemia, which is the most common and also the most severe. (pfizer.com)
- Sickle cell trait (SCT) affects approximately one in 12 African-Americans in the U.S., yet many are unaware that they carry the gene that causes sickle cell disease (SCD). (stmarysmc.com)
- Living with the trait doesn't mean that the person exhibits any characteristics of the disease. (stmarysmc.com)
- If only one or both parents have the sickle cell trait, then there is a 50 percent chance that the baby will receive the trait, making the baby a carrier (but not have the disease). (stmarysmc.com)
- Sickle cell disease has many life-long complications that you may not want to risk passing onto the next generation. (stmarysmc.com)
- Several of the complications observed in sickle cell disease (SCD) are influenced by variation in hematologic traits (HT), such as fetal hemoglobin (HbF) level and neutrophil count. (haematologica.org)
- Sickle cell disease (SCD), the most frequent monogenic disease worldwide, is caused by mutations in the β-globin gene. (haematologica.org)
- For those curious, "people with sickle cell trait carry the sickle cell gene, but they do not have the disease," per a story by Cincinnati Children's Hospital . (cincyjungle.com)
- Sickle cell trait (SCT) is not a mild form of sickle cell disease. (cdc.gov)
- Having SCT simply means that a person carries a single gene for sickle cell disease (SCD) and can pass this gene along to Sickle Cell Trait or their children. (cdc.gov)
- This means the person won't have sickle cell disease, but will be a trait "carrier" and can pass it on to their children. (cdc.gov)
- Sickle cell anemia, or sickle cell disease (SCD), is a genetic disease of the red blood cells (RBCs). (healthline.com)
- However, with this disease, the RBCs have an abnormal crescent shape resembling a sickle. (healthline.com)
- What are the types of sickle cell disease? (healthline.com)
- Hemoglobin SS disease is the most common type of sickle cell disease. (healthline.com)
- Hemoglobin SC disease is the second most common type of sickle cell disease. (healthline.com)
- These types of sickle cell disease are more rare and usually don't have severe symptoms. (healthline.com)
- Children are only at risk for sickle cell disease if both parents carry sickle cell trait. (healthline.com)
- The spleen may have to be removed due to complications of sickle cell disease in an operation known as a splenectomy. (healthline.com)
- Having sickle cell trait doesn't mean that you have sickle cell disease. (sicklecellspeaks.com)
- In order to have sickle cell disease, a person must inherit two sickle cell genes, one from each parent. (sicklecellspeaks.com)
- Each time this couple has a child, the chances of that child having sickle cell disease remain the same. (sicklecellspeaks.com)
- In other words, if their first child is born with sickle cell disease, there is still a 25% chance that their second child will also have sickle cell disease. (sicklecellspeaks.com)
- There are two separate conditions: Sickle Cell Disease (SCD), and Sickle Cell Trait. (diagnosis123.com)
- Sickle Cell Trait is not a disease, because people with it almost never become ill. (diagnosis123.com)
- If both mother and father have Trait, there is a 25% chance that their baby will have actual Sickle Cell Disease. (diagnosis123.com)
- Unlike sickle cell disease, a serious illness in which patients have two genes that cause the production of abnormal hemoglobin (the substance in red blood cells that helps carry oxygen), individuals with sickle cell trait carry only one defective gene and typically live normal lives. (onescdvoice.com)
- Sickle cell disease poses a serious heal. (onescdvoice.com)
- This study investigates ways to prevent blood clotting in people with sickle cell disease. (nih.gov)
- Scientists are studying the blood of people with sickle cell disease and comparing it with the blood of people without sickle cell disease over 2 years. (nih.gov)
- Carrying the sickle cell trait does not play a significant role in the increased risk for coronary heart disease among African Americans, a study published by JAMA Network Open found. (znan.org)
- Sickle cell disease can be serious and debilitating, and treatment can be challenging. (medstarhealth.org)
- Public awareness of sickle cell disease and education about testing for a hemoglobin trait are critical to help reduce the incidence of the disease. (medstarhealth.org)
- The abnormal blood cells can place every major organ at risk of injury and disease. (medstarhealth.org)
- When the blood oxygen levels in the body are low, the sickle hemoglobin polymerizes and precipitates in the red blood cells, giving rise to the elongated or sickle-shaped cells (like a crescent moon) that give the disease its name. (medstarhealth.org)
- The sickle cell test looks for the abnormal hemoglobin in the blood that causes the disorder sickle cell disease . (medlineplus.gov)
- This test is done to tell if a person has abnormal hemoglobin that causes sickle cell disease and sickle cell trait. (medlineplus.gov)
- In sickle cell disease, a person has two abnormal hemoglobin S genes. (medlineplus.gov)
- Sickle cell disease: clinical features and management. (medlineplus.gov)
- Anemia occurs in persons with sickle cell disease because the sickled red cells do not live as long as normal red blood cells. (mo.gov)
- The most common form of sickle cell disease. (mo.gov)
- Sickle cell trait and the various types of sickle cell disease. (mo.gov)
- In persons with sickle cell disease, hemoglobin S in red blood cells stick to one another and cause the red cells to become crescent or sickle shaped. (mo.gov)
- Although many hemoglobinopathies exist, those resulting in proliferative retinopathy are limited to sickle cell disease. (medscape.com)
- In 1930, ocular changes associated with sickle cell disease were noted. (medscape.com)
- In 1959, Lieb and coworkers associated angioid streaks with sickle cell disease. (medscape.com)
- In 1966, Welch and Goldberg introduced and described much of the modern terminology associated with sickle cell disease with respect to ocular changes. (medscape.com)
- [ 7 ] About 8% of African Americans are heterozygous for Hb S. In the United States, sickle cell anemia primarily occurs in the Black population, with approximately 0.2% of African-American children afflicted by this disease. (medscape.com)
- Sickle cell anemia, or sickle cell disease (SCD), is the most common form of inherited blood disorder. (medicalnewstoday.com)
- People with one sickle cell gene carry SCT, which typically does not cause severe disease. (medicalnewstoday.com)
- Sickle cell disease usually presents in babies at birth. (medicalnewstoday.com)
- The couple's four-year-old daughter Nazaneen lives with sickle cell disease. (healthline.com)
- To spread awareness, they are speaking out about sickle cell disease. (healthline.com)
- Because the Colemans both carry the gene, any child they have together has a 25 percent chance of being born with sickle cell disease (SCD), a serious blood illness that causes the production of abnormal hemoglobin, which helps carry oxygen throughout the body. (healthline.com)
- Within hemoglobinopathies, sickle cell disease is the most common and is mainly widespread in sub-Saharan Africa, the Middle East, India and among people of African descent living in Europe and North, Central and South America 4 4 Cataldo F. Immigration and changes in the epidemiology of hemoglobin disorders in Italy: an emerging public health burden. (scielo.br)
- The result is a powerful experience that can empower kids with sickle cell disease to lead healthier lives. (aol.com)
- A vastly underserved disease, sickle cell disease is a genetic blood disorder that changes normally round red blood cells into a sickle-like or crescent shape. (aol.com)
- Infants inherit the disease when both parents are carriers of the sickle cell trait. (aol.com)
- Jimmy Canton, chief executive officer at The Hole in Wall Gang Camp, says that kids with sickle cell anemia form the largest disease group, representing nearly a third of those attending the nonprofit's onsite summer programs for seriously ill children. (aol.com)
- The Hole in the Wall Gang Camp serves children with sickle cell disease at six out of its nine summer sessions, with two sessions devoted specifically for children with advanced cases. (aol.com)
- Sickle-cell disease (SCD) is an inherited disorder of haemoglobin. (who.int)
- Sickle-cell disease (SCD) is a genetic condition in which the red blood cells contain haemoglobin S (HbS), an abnormal form of the oxygen-carrying protein. (who.int)
- Sickle-cell disease prevalence depends on sickle-cell trait. (who.int)
- Sickle cell anemia is an inherited disease in which the red blood cells, normally disc-shaped, become crescent shaped. (health.am)
- Someone with sickle cell trait or these forms of sickle cell disease will usually have no symptoms or only mild ones. (health.am)
- Sickle cell disease is much more common in certain ethnic groups, affecting approximately one out of every 500 African Americans. (health.am)
- Although sickle cell disease is inherited and present at birth, symptoms usually don't occur until after 4 months of age. (health.am)
- Many manifestations of this disease are a result of the fragility and inflexibility of the sickle red blood cells. (health.am)
- Patients with sickle cell disease need certain treatment and follow-up even when not having a painful crisis. (health.am)
- ABSTRACT In January 2002, a pilot programme of neonatal screening for sickle cell disease was launched in the United Arab Emirates (UAE) in 3 districts of Abu Dhabi emirate. (who.int)
- The overall incidence of sickle cell disease among 22 200 screened neonates was 0.04% (0.07% for UAE citizens and 0.02% for non-UAE citizens). (who.int)
- For at least 20 years it has been known that and testing of other family members, af- children with sickle cell anaemia have an fords an opportunity to identify and coun- increased susceptibility to severe bacterial sel couples at risk for having future infection, particularly from Streptococcus children with clinically significant disease. (who.int)
- Previously undiagnosed family members with this organism is greater in the first 3 with the trait or disease can also be identi- years of life and can occur as early as 4 fied [ 5 ]. (who.int)
- 1998. In January 2002, the Ministry of dence of pneumococcal sepsis provided a Health decided to launch a pilot study for powerful incentive for the widespread im- neonatal screening of sickle cell disease be- plementation of neonatal screening for fore expanding it at the national level. (who.int)
- Dhabi emirate through a 12-month period tality from sickle cell disease in infancy and of the sickle neonatal screening pro- early childhood [ 2 ]. (who.int)
- Sickle cell disease is an inherited genetic abnormality of hemoglobin (the oxygen-carrying protein found in red blood cells) characterized by sickle (crescent)-shaped red blood cells and chronic anemia caused by excessive destruction of the abnormal red blood cells. (msdmanuals.com)
- A special blood test called electrophoresis can be used to determine whether people have sickle cell disease. (msdmanuals.com)
- Sickle cell disease affects people with African or Black American ancestry almost exclusively. (msdmanuals.com)
- About 10% of people with such ancestry in the United States have one copy of the gene for sickle cell disease (that is, they have sickle cell trait). (msdmanuals.com)
- People who have sickle cell trait do not develop sickle cell disease, but they do have increased risks of some complications such as blood in their urine. (msdmanuals.com)
- In several hereditary disorders, red blood cells become spherical (in hereditary spherocytosis), oval (in hereditary elliptocytosis), or sickle-shaped (in sickle cell disease). (msdmanuals.com)
- In sickle cell disease, the red blood cells contain an abnormal form of hemoglobin (the protein that carries oxygen). (msdmanuals.com)
- Sickle-cell anaemia (also known as sickle-cell disorder or sickle-cell disease) is a common genetic condition due to a haemoglobin disorder - inheritance of mutant haemoglobin genes from both parents. (who.int)
- 8. Known or documented sickle cell disease by history. (who.int)
- To the best of your knowledge, has [he/she] had blood problems such as anemia or sickle cell disease? (cdc.gov)
- The incidence of screened disorders were 1:1 873 for congenital hypothyroidism, 1:14 544 for phenylketonuria, 1:3 526 for amino acid, organic acid and fatty acid disorders, 1:9 030 for classical congenital adrenal hyperplasia, 1:8 300 for biotinidase deficiency, 1:2 384 for sickle-cell disease and 1:121 for sickle-cell traits. (who.int)
- A screening centre, usually the maternal by MS/MS (API 3200TM, HVD/Perkin sickle-cell disease (SCD) screening and child health (MCH) centre of Elmer). (who.int)
- Sickle cell disease (SCD) is associated with chronic haemolysis, immuno-suppression and suscepti- bility to infections, which may trigger infection-associated haemolysis (IAH). (bvsalud.org)
Anemia27
- In addition, sickle cells die earlier than healthy cells, causing a contant shortage of red blood cells, also known as anemia. (pfizer.com)
- 1 in 4 (25%) chance of having sickle cell anemia, one of several types of SCD. (cdc.gov)
- Sickle cell anemia is a serious medical condition. (cdc.gov)
- 1 in 4 (25%) chance of having SCD (not sickle cell anemia). (cdc.gov)
- What are the symptoms of sickle cell anemia? (healthline.com)
- Symptoms of sickle cell anemia usually show up at a young age. (healthline.com)
- The four main types of sickle cell anemia are caused by different mutations in these genes. (healthline.com)
- Who is at risk for sickle cell anemia? (healthline.com)
- What complications can arise from sickle cell anemia? (healthline.com)
- The following are types of complications that can result from sickle cell anemia. (healthline.com)
- Swollen hands and feet are often the first sign of sickle cell anemia in babies. (healthline.com)
- Both SCD and Trait can be easily diagnosed by blood tests for the type of hemoglobin in our RBCs (not the routine test for anemia. (diagnosis123.com)
- Are you familiar with Sickle Cell Anemia (SCA), a serious genetic blood disorder that is caused when the sickle trait is passed from both parents to a child? (medstarhealth.org)
- However, when both parents carry the sickle trait, their children have a 50 percent chance of inheriting the trait, and a 25 percent chance of developing sickle cell anemia (SCA). (medstarhealth.org)
- This seems to be important in view of previous experience that suggests that these eyes do not tolerate minimal to moderate elevations in IOP as well as those of patients without sickle cell anemia. (johnshopkins.edu)
- Sickle cell anemia is the result of the inheritance of the gene for sickle hemoglobin (S) from both parents. (mo.gov)
- An inherited disorder of the red blood cells in which anemia is present and sickle hemoglobin is produced. (mo.gov)
- In 1910, James Herrick, a Chicago physician, first described sickle cell anemia, "The shape of the RBC [red blood cell] was very irregular. (medscape.com)
- In 1949, Itano and Pauling described the association of sickle cell anemia with abnormal hemoglobin Hb S, which could be differentiated from Hb A by electrophoresis. (medscape.com)
- In sickle cell anemia, the amino acid substitution valine for glutamate occurs on the beta chain at the sixth position. (medscape.com)
- Sickle cell anemia is a homozygous-recessive disorder, that is, the individual receives two mutant genes that code for the variant beta globin chain. (medscape.com)
- The aims of this study were to identify the main characteristics regarding the shape and size of the craniofacial region in patients with sickle cell anemia (SCA) and sickle cell trait (SCT) and in unaffected patients using geometric morphometrics and to check the efficiency of this method . (bvsalud.org)
- Sickle cell anemia is caused by an abnormal type of hemoglobin (oxygen carrying molecule) called hemoglobin S. It is inherited as an autosomal recessive trait - that is, it occurs in someone who has inherited hemoglobin S from both parents. (health.am)
- However, some of these conditions can cause symptoms similar to sickle cell anemia. (health.am)
- Sickle cell anemia may become life-threatening when damaged red blood cells break down (hemolytic crisis), when the spleen enlarges and traps the blood cells (splenic sequestration crisis), or when a certain type of infection causes the bone marrow to stop producing red blood cells (aplastic crisis). (health.am)
- Worsening anemia, fever, and shortness of breath with pain in the long bones, abdomen, and chest can indicate sickle cell crisis. (msdmanuals.com)
- Overview of Anemia Anemia is a condition in which the number of red blood cells is low. (msdmanuals.com)
Plasmodium2
- The trait is known to cause significantly fewer deaths due to malaria, especially when Plasmodium falciparum is the causative organism. (wikipedia.org)
- One of the more common explanations is that the sickle hemoglobin inhibits the plasmodium parasite from infecting the red blood cells which reduces the number of malaria parasites to infect the host. (wikipedia.org)
Malaria10
- The sickle cell trait provides a survival advantage against malaria fatality over people with normal hemoglobin in regions where malaria is endemic. (wikipedia.org)
- Because of the unique survival advantage, people with the trait become increasingly numerous as the number of malaria-infected people increases. (wikipedia.org)
- citation needed] The way in which sickle cell protects against malaria is attributed to several different things. (wikipedia.org)
- Malaria-Driven Sickle Cell Trait Selection - Evidence for Modern Day Human Evolution? (onescdvoice.com)
- Because people with sickle trait were more likely to survive malaria outbreaks in Africa than those with normal hemoglobin, it is believed that this genetically aberrant hemoglobin evolved as a protection against malaria. (health.am)
- This distribution reflects the fact that sickle-cell trait confers a survival advantage against malaria and that selection pressure due to malaria has resulted in high frequencies of the mutant gene especially in areas of high malarial transmission. (who.int)
- The sickle-cell gene has become common in Africa because the sickle-cell trait confers some resistance to falciparum malaria during a critical period of early childhood, favouring survival of the host and subsequent transmission of the abnormal haemoglobin gene. (who.int)
- Although a single abnormal gene may protect against malaria, inheritance of two abnormal genes leads to sickle-cell anaemia and confers no such protection, and malaria is a major cause of ill-health and death in children with sickle-cell anaemia. (who.int)
- There is increasing evidence that malaria not only influences outcome but also changes the manifestations of sickle-cell anaemia in Africa. (who.int)
- In sub-Saharan Africa mortality will be much higher than in Jamaica, and in some areas estimates derived from the age structure of populations attending clinics suggest that half of those with sickle-cell anaemia have died by the age of five years usually from infections including malaria and pneumococcal sepsis, and from the anaemia itself. (who.int)
Person with sickle cell2
- A person with sickle cell trait inherits one normal allele and one abnormal allele encoding hemoglobin S (hemoglobin genotype AS). (wikipedia.org)
- A person with sickle cell trait has only one of these abnormal genes and no symptoms, or only mild ones. (medlineplus.gov)
African Americans5
- Sickle cell trait is most common in African-Americans, but is also found in those with a family history from Central and South America, the Caribbean, India, Saudi Arabia, sub-Saharan Africa and the Mediterranean - Italy, Greece and Turkey. (stmarysmc.com)
- In the U.S., 7% to 10% of African-Americans have one sickle cell gene, meaning they have Trait. (diagnosis123.com)
- Sickle cell trait is an inherited blood disorder that affects 1 million to 3 million Americans and 8 to 10 percent of African Americans. (onescdvoice.com)
- During his time as a college football player at Indiana University, New York Jets running back Tevin Coleman began feeling the effects of carrying the sickle cell trait (SCT), an inherited blood disorder that affects 8 to 10 percent of African Americans , according to the American Society of Hematology. (healthline.com)
- Approximately 8% of African Americans have sickle cell trait. (health.am)
Heterozygous2
- Those who are heterozygous for the sickle cell allele produce both normal and abnormal hemoglobin (the two alleles are codominant with respect to the actual concentration of hemoglobin in the circulating cells). (wikipedia.org)
- Heterozygous individuals ried out using high performance liquid have sickle cell trait, a generally benign, as- chromatography (HPLC). (who.int)
Symptoms3
- Most people with sickle cell trait will not have any symptoms or complications and will not know they have sickle cell trait unless they are tested for it. (sicklecellspeaks.com)
- Most people who carry a single copy of the sickle gene-the sickle cell trait -will not develop symptoms of the disorder and may never know that they are carriers. (medstarhealth.org)
- Those with the trait are carriers, have no symptoms, but can pass the gene on to their offspring. (who.int)
Genes4
- Genes are the instructions that control how red blood cells make alpha- and beta-globin proteins. (cdc.gov)
- It is thing to know about inherited when a child receives two sickle beta-globin genes-- one from each parent. (cdc.gov)
- Genes determine our various characteristics such as hair color and texture, eye and skin color, height, etc., including the kind of hemoglobin in the red blood cells. (mo.gov)
- Individuals who inherit sickle-cell genes from both parents are homozygotes and develop SCD, while those who inherit the gene from only one parent have the sickle-cell trait (SCT). (who.int)
Persons with sickle1
- Pulmonary function abnormalities, which have been reported to occur in persons with sickle cell trait (hemoglobin AS), could intensify the hypoxic stimulus for the systemic formation of sickle cells at high altitude. (elsevierpure.com)
Hemoglobinopathies2
- Since vitreous hemorrhage and retinal detachment account for most visual loss in hemoglobinopathies, the primary goal in treating proliferative sickle retinopathy is to minimize or eliminate neovascularization. (medscape.com)
- Tests for serum alpha-1 antitrypsin deficiency, glucose-6-phosphate-dehydrogenase deficiency, cadmium -disulfide genetic predisposition, isocyanate allergic reaction, and sickle cell trait hemoglobinopathies are discussed. (cdc.gov)
Advocated in treating prol1
- Different techniques have been advocated in treating proliferative sickle retinopathy, including scatter photocoagulation and feeder vessel photocoagulation. (medscape.com)
Incidence2
- This paper reports the incidence of sickle cell diseases, other haemoglobinopathies and haemoglobinopathy carriers over a 12-month period using high performance liquid chromatography as a primary screening method. (who.int)
- The incidence of sickle cell trait was 1.1% overall (1.5% for UAE citizens and 0.8% for non-UAE citizens). (who.int)
Oxygen13
- This is because the sickling happens only at low oxygen concentrations. (wikipedia.org)
- It measures your hemoglobin, the part of your red blood cells that carries oxygen. (akronchildrens.org)
- Hemoglobin is the protein in red blood cells that carries oxygen. (healthline.com)
- The precipitation of the hemoglobin in SCD causes red blood cells to become misshapen, impairing their ability to transit the blood vessel and deliver oxygen to tissues. (medstarhealth.org)
- A protein in the red blood cell that carries oxygen from the lungs to other parts of the body and gives blood its red color. (mo.gov)
- The blood cells that carry oxygen. (mo.gov)
- People with SCD have abnormally shaped hemoglobin, the protein in red blood cells that carries oxygen from the lungs to bodily tissues. (medicalnewstoday.com)
- When patients experience dehydration, infection, and low oxygen supply, these fragile red blood cells assume a crescent shape, causing red blood cell destruction and poor flow of these blood cells through blood vessels, resulting in a lack of oxygen to the body's tissues. (health.am)
- Red blood cells contain hemoglobin, a protein that enables them to carry oxygen from the lungs and deliver it to all parts. (msdmanuals.com)
- The sickle-shaped cells become more numerous when people have infections or low levels of oxygen in the blood. (msdmanuals.com)
- Because the sickle cells are stiff, they have difficulty traveling through the smallest blood vessels (capillaries), blocking blood flow and reducing oxygen supply to tissues in areas where capillaries are blocked. (msdmanuals.com)
- The main problems arise from the tendency of the red blood cells to become sickle-shaped and block capillaries at low oxygen tension. (who.int)
- In the human body, iron is present in all cells and has several vital functions -- as a carrier of oxygen to the tissues from the lungs in the form of hemoglobin (Hb), as a facilitator of oxygen use and storage in the muscles as myoglobin, as a transport medium for electrons within the cells in the form of cytochromes, and as an integral part of enzyme reactions in various tissues. (cdc.gov)
Complications of sickle1
- One day I learned that a football player had died from complications of sickle cell trait while participating in spring practice at another university. (cincyjungle.com)
Presence of sickle1
- Despite universal newborn screening that detects the presence of sickle cell trait (SCT), only 16 percent of Americans with SCT know their status. (newswise.com)
Inherits3
- SCT occurs when a person inherits a gene for sickle beta- globin from one parent and a gene for normal beta-globin from the other parent. (cdc.gov)
- A person who inherits the sickle cell gene from only one parent is called a trait carrier. (sicklecellspeaks.com)
- Someone who inherits hemoglobin S from one parent and normal hemoglobin (A) from the other parent will have sickle cell trait. (health.am)
Newborns3
- This brochure was developed by Dr. Wanda Whitten-Shurney of SCDAA-Michigan Chapter for counseling for sickle trait in newborns, as well as adolescents and adults. (onescdvoice.com)
- The presence of the hemoglobin variants, such as the sickle hemoglobin, can be determined by a simple blood test called a hemoglobin electrophoresis, and most states require sickle cell testing for pregnant women and newborns. (medstarhealth.org)
- Globally, there are more carriers (i.e. healthy people who have inherited only one mutant gene from one parent) of thalassaemia than of sickle-cell anaemia, but the high frequency of the sickle-cell gene in certain areas leads to a high rate of affected newborns. (who.int)
RBCs3
- Hand-foot syndrome occurs when sickle-shaped RBCs block blood vessels in the hands or feet. (healthline.com)
- The genetic abnormality in SCD makes our nice, round Red Blood Cells (RBCs) turn sickle-shaped. (diagnosis123.com)
- The results reveal that SCT RBCs are inherently stiffer than control RBCs, and lowering pH further stiffens the SCT cells. (syr.edu)
Diseases3
- Together, this group of diseases where two abnormal traits are inherited is referred to as the sickle cell diseases (SCD). (medstarhealth.org)
- A group of inherited diseases of the blood that affect a person's ability to produce hemoglobin in their red blood cells. (mo.gov)
- ABSTRACT The national neonatal screening programme in the United Arab Emirates currently includes 16 disorders: congenital hypothyroidism, sickle-cell diseases, congenital adrenal hyperplasia, biotinidase deficiency and 12 amino acid, organic acid and fatty acid disorders. (who.int)
Occur3
- What health problems might occur in people with sickle cell trait? (sicklecellspeaks.com)
- There are rare serious or life-threatening conditions that may occur among persons with Trait who are suddenly exposed to high altitude (without gradual acclimatization), become dehydrated in severe heat, have blood in urine, get hit in the eye, or possibly if they engage in intensive strenuous exercise. (diagnosis123.com)
- Pain can occur when the misshapen red sickle cells obstruct the blood vessels, causing bone pains, commonly in the legs, back, arms, and chest. (medstarhealth.org)
Retinopathy5
- citation needed] Sickle cell trait appears to worsen the complications seen in diabetes mellitus type 2 (retinopathy, nephropathy and proteinuria) and provoke hyperosmolar diabetic coma nephropathy, especially in male patients. (wikipedia.org)
- Although treatments are not indicated or required for stages I and II, most advocate the treatment of sickle retinopathy for stage III. (medscape.com)
- This technique has been shown to manage proliferative sickle retinopathy effectively, especially in cases where neovascularization has persisted after extensive scatter photocoagulation treatment. (medscape.com)
- In 1971, Goldberg proposed a classification for sickle cell retinopathy. (medscape.com)
- The widely accepted pathogenesis for sickle cell retinopathy is vasoocclusion that leads to retinal hypoxia, ischemia, infarction, neovascularization, and fibrovascularization. (medscape.com)
Venous thromboembolism1
- There have been reports of pulmonary venous thromboembolism in pregnant women with sickle cell trait, or men during prolonged airflight, and mild strokes and abnormalities on PET scans in children with the trait. (wikipedia.org)
Anaemia12
- Differentiate between sickle cell anaemia and sickle cell trait. (atikaschool.org)
- Such haemoglobinopathies, mainly thalassaemias and sickle-cell anaemia, are globally widespread. (who.int)
- 200 000 cases of sickle-cell anaemia in Africa. (who.int)
- Sickle-cell anaemia is particularly common among people whose ancestors come from sub-Saharan Africa, India, Saudi Arabia and Mediterranean countries. (who.int)
- Frequencies of the carrier state determine the prevalence of sickle-cell anaemia at birth. (who.int)
- For example, in Nigeria, by far the most populous country in the subregion, 24% of the population are carriers of the mutant gene and the prevalence of sickle-cell anaemia is about 20 per 1000 births. (who.int)
- This means that in Nigeria alone, about 150 000 children are born annually with sickle-cell anaemia. (who.int)
- The public health implications of sickle-cell anaemia are significant. (who.int)
- When health impact is measured by under-five mortality, sickle-cell anaemia contributes the equivalent of 5% of under- five deaths on the African continent, more than 9% of such deaths in west Africa, and up to 16% of under-five deaths in individual west African countries. (who.int)
- There are, however, no firm data on the survival of patients with sickle-cell anaemia on the African continent. (who.int)
- Sickle-cell anaemia covers a wide spectrum of illness. (who.int)
- While IAEMH is associated with severe anaemia due to intravascular haemolysis caused by red cell invasion, oxidative injury, auto-antibodies, and/or pathogen-haem interaction, IAIMH is associated with haemophagocytic tri-lineage destruction of haematopoietic precursors in the bone marrow. (bvsalud.org)
Abstract3
- abstract = "We analyzed 22 sickle cell trait hyphemas. (johnshopkins.edu)
- abstract = "The risk of vaso-occlusion events of sickle cell trait (SCT) athletes were speculatively ascribed to SCT red blood cell (RBC) stiffening during strenuous exercise. (syr.edu)
- abstract = "Introduction: A number of studies have found an association between sickle cell trait (SCT) and exertional heat illnesses (EHIs) including heat stroke, a potentially fatal condition. (usuhs.edu)
Carrier2
- A trait carrier is healthy, but can pass the sickle gene to their children. (sicklecellspeaks.com)
- The inheritance of one gene for normal hemoglobin (A), and one gene for hemoglobin (C). A person who has hemoglobin C Trait (AC) is a carrier of the hemoglobin C gene, and is not affected by the gene. (mo.gov)
Hemoglobinopathy1
- Sickle cell hemoglobinopathy encompasses a group of inherited genetic disorders, which cause erythrocytes to become sickled and affect multiple organ systems. (medscape.com)
Disorder4
- Millions of people worldwide are affected by the sickle cell blood disorder. (pfizer.com)
- Do you or your child have a platelet, bleeding, or white blood cell disorder? (nih.gov)
- To participate in this study, you must be a child or adult who either is healthy or has a platelet disorder, coagulation disorder, or white blood cell disorder. (nih.gov)
- To prevent the abnormal sickle gene from being passed to offspring, we must intervene earlier, help people understand the danger of this disorder, and encourage testing for the hemoglobin gene traits in at-risk ethnic groups. (medstarhealth.org)
People with the trait1
- In rare cases, some people with the trait may experience a complication. (stmarysmc.com)
Affects1
- SCD affects cells so that they become crescent- or sickle-shaped instead of being rounded, and they become less rigid than those in people without the condition. (medicalnewstoday.com)
Patients3
- Hematuria Hyposthenuria Renal medullary carcinoma, a cancer affecting the kidney, is a very rare complication seen in patients with sickle cell trait. (wikipedia.org)
- Some sickle cell patients will sustain enough damage to their spleen that it becomes shrunken and ceases to function at all. (healthline.com)
- Chronic pain is the most common cause of poor quality of life in sickle patients. (medstarhealth.org)
Crisis1
- Taubenberger's autopsy results showed that the soldier had had a sickle-cell crisis that contributed to his death even though he had only one copy of the gene. (wikipedia.org)
Babies1
- Adults can also get tested, such as immigrants from high-prevalence areas who were not tested at birth, or anyone who never found out their results (even though all parents are always told if their baby is positive for SCD, this doesn't always happen for babies with Trait). (diagnosis123.com)
Crises4
- As the sickle cells clog the blood vessel, they can block blood flow to various parts of the body, causing painful episodes (known as sickle cell crises) and raise the risk of infection. (pfizer.com)
- Painful or damaging blockages are called sickle cell crises. (healthline.com)
- These clots give rise to recurrent painful episodes called "sickle cell pain crises. (health.am)
- Sickle cell trait does not cause painful crises, but rarely, people die suddenly while undergoing very strenuous exercise that causes severe dehydration, such as during military or athletic training. (msdmanuals.com)
Neonatal1
- Universal neonatal screening for sickle cell haemoglobin at the national level should be considered. (who.int)
Individuals4
- However, individuals with sickle cell trait may have rare complications. (wikipedia.org)
- The ophthalmologist should also be made aware that the person has SCT since some medications used to treat increased intraocular pressure might cause sickling complications in individuals with SCT. (cdc.gov)
- Previous large-scale genome-wide association studies carried out in largely healthy individuals have identified thousands of variants associated with HT, which have then been used to develop multi-ancestry polygenic trait scores (PTS). (haematologica.org)
- Rarely, extreme conditions such as severe dehydration and high-intensity physical activity can lead to serious health issues, including sudden death, for individuals with sickle cell trait. (onescdvoice.com)
Gene from one parent1
- People with sickle cell trait have inherited a sickle cell gene from one parent and a normal gene from the other parent. (sicklecellspeaks.com)
20162
- He was diagnosed with the sickle cell trait, and his production dropped off in both 2016 (39 catches, 517 yards, two touchdowns) and 2017 (21 catches, 299 yards, three touchdowns). (baltimoreravens.com)
- Brown believes a cyst on his spine in 2016 caused the root of his problems in Arizona, not the sickle cell trait, which can cause carriers to suffer muscle breakdown while doing intense exercise. (baltimoreravens.com)
Benign1
- Sickle cell trait is a hemoglobin genotype AS and is generally regarded as a benign condition. (wikipedia.org)
Renal7
- Translocation carcinoma is a renal cell carcinoma (RCC) subtype that harbors a translocation involving a member of the microphthalmia transcription factor gene family. (medscape.com)
- Translocation-associated renal cell carcinomas (RCCs) arise from the proximal tubule epithelium, similar to conventional clear cell and papillary RCCs. (medscape.com)
- Xp11.2 translocation-associated renal cell carcinomas are generally cortical or subcapsular, well-circumscribed lesions with yellow-tan, variegated cut surfaces. (medscape.com)
- In Xp11.2 translocation-associated renal cell carcinoma (RCC), cells typically have voluminous cytoplasm, which can range from eosinophilic and granular to clear. (medscape.com)
- Xp11.2 translocation-associated renal cell carcinomas (RCCs) may have well-developed papillae, mimicking papillary RCCs. (medscape.com)
- In Xp11.2 translocation-associated renal cell carcinoma, tumor cells with abundant eosinophilic cytoplasm and high nuclear grade are often arranged in large nests with a delicate, intervening vascular stroma. (medscape.com)
- The nests of tumor cells in Xp11.2 translocation-associated renal cell carcinomas may become centrally discohesive, giving rise to a pseudoalveolar growth pattern. (medscape.com)
Copy of the gene1
- If you have only one copy of the gene, you are said to have sickle cell trait. (healthline.com)
Speaks1
- Tevin and Akilah partnered with Global Blood Therapeutics and Sickle Cell Speaks to raise awareness of SCD, advocate for early and proactive care, and share advice for parents and children impacted by SCD. (healthline.com)
Spleen1
- Clark has sickle cell trait and as a result, lost his spleen and gall bladder after experiencing pain in Denver during the 2007 season . (cincyjungle.com)