Hemoglobin SC Disease
Hemoglobin C
Hemoglobin C Disease
Erythrocytes, Abnormal
Anemia, Sickle Cell
Hemoglobins
Erythrocyte Deformability
Mononuclear Phagocyte System
Conjunctiva
Encyclopedias as Topic
Holography
Lenses
Oximetry
Endothelial cell nitric oxide production in acute chest syndrome. (1/62)
Acute chest syndrome (ACS) is the most common form of acute pulmonary disease associated with sickle cell disease. To investigate the possibility that alterations in endothelial cell (EC) production and metabolism of nitric oxide (NO) products might be contributory, we measured NO products from cultured pulmonary EC exposed to red blood cells and/or plasma from sickle cell patients during crisis. Exposure to plasma from patients with ACS caused a 5- to 10-fold increase in S-nitrosothiol (RSNO) and a 7- to 14-fold increase in total nitrogen oxide (NO(x)) production by both pulmonary arterial and microvascular EC. Increases occurred within 2 h of exposure to plasma in a concentration-dependent manner and were associated with increases in endothelial nitric oxide synthase (eNOS) protein and eNOS enzymatic activity, but not with changes in nitric oxide synthase (NOS) III or NOS II transcripts, inducible NOS (iNOS) protein nor iNOS enzymatic activity. RSNO and NO(x) increased whether plasma was obtained from patients with ACS or other forms of vasoocclusive crisis. Furthermore, an oxidative state occurred and oxidative metabolites of NO, particularly peroxynitrite, were produced. These findings suggest that altered NO production and metabolism to damaging oxidative molecules contribute to the pathogenesis of ACS. (+info)An in vitro system for efficiently evaluating gene therapy approaches to hemoglobinopathies. (2/62)
A variety of gene therapy strategies are under development for the treatment of sickle cell anemia and other hemoglobinopathies. A number of alternative vectors have been developed to transfer and express the beta-globin gene and other therapeutic molecules, but none has resulted in efficient transduction and stable long-term expression in primary hematopoietic cells. One reason for this problem is that most vectors are initially evaluated in immortalized cell lines which may not faithfully recapitulate the biology of primary erythroid cells. In order to provide a more relevant system for efficiently evaluating alternative vector constructs for beta-globin disorders, we have developed (1) a simple method for generating primary human red blood cell (RBC) precursors in liquid culture established with mononuclear cells obtained from normal donors as well as patients with Hb SC disease; (2) a high titer retroviral vector which can be easily modified to optimize gene transfer and transgene expression; and (3) methods for transducing the RBC precursors at high efficiency. The development of simple and efficient methods and reagents for generating and transducing primary human RBC precursors provides a facile and effective means for screening alternative gene therapy strategies. Gene Therapy (2000) 7, 215-223. (+info)Helicobacter pylori infection in sickle cell disease. (3/62)
Abdominal pain is a common presenting symptom in adults with sickle cell disease (SCD). One case of Helicobacter pylori gastritis has been reported in a child with sickle cell anemia. H. pylori-induced peptic ulcer disease (PUD) has not previously been reported in adults with SCD. We report eight cases of H. pylori infection in adult sickle cell patients presenting with acute or recurrent abdominal pain and/or gastrointestinal bleeding. In all cases, H. pylori serology (IgG) was positive, and three patients had gastric or duodenal ulcer by endoscopic examination. All patients responded to H. pylori treatment with complete resolution of symptoms by 4 weeks. The prevalence of H. pylori infection in SCD is unknown, but patients may be at increased risk for H. pylori-induced PUD and complications due to pre-existing anemia, increased nonsteroidal anti-inflammatory drug use, and alloimmunization which may delay necessary transfusion. It is important that the differential diagnosis of abdominal pain in adults with SCD include nonsickle cell-related disorders such as PUD. When confirmed, a definitive etiology of PUD must be determined so that appropriate treatment strategies can be initiated promptly and excess morbidity avoided. (+info)Sickle cell disease and age at menarche in Jamaican girls: observations from a cohort study. (4/62)
AIMS: (1) To investigate the distribution of age at menarche in a representative sample of 99 patients with homozygous sickle cell (SS) disease, 69 with sickle cell haemoglobin C (SC) disease, and 100 controls with a normal haemoglobin (AA) genotype followed in a cohort study from birth. (2) To explore the determinants of the age at menarche. METHODS: Children ascertained in a newborn screening programme were followed prospectively from birth to age 18-26.5 years with regular assessments of height, weight, pubertal stage, and haematological indices at the Sickle Cell Clinic of the University Hospital of the West Indies. RESULTS: All subjects have now reached menarche and the mean age in normal controls (13.0 years) was significantly earlier than in SC disease (13.5 years) or SS disease (15.4 years). Greater weight and earlier age at menarche was the only association significant across all genotypes although additional contributions occurred from fetal haemoglobin and red cell count in SS disease. Alpha thalassaemia, which ameliorates many of the effects of SS disease, had no discernible effect on menarche. CONCLUSIONS: Mean age at menarche is delayed by 0.5 years in SC disease and by 2.4 years in SS disease. Weight appears to be the principle determinant of age at menarche. (+info)Oral citrulline as arginine precursor may be beneficial in sickle cell disease: early phase two results. (5/62)
L-Arginine may be a conditionally essential amino acid in children and adolescents with sickle cell disease, particularly as required substrate in the arginine-nitric oxide pathway for endogenous nitrovasodilation and vasoprotection. Vasoprotection by arginine is mediated partly by nitric oxide-induced inhibition of endothelial damage and inhibition of adhesion and activation of leukocytes. Activated leukocytes may trigger many of the complications, including vasoocclusive events and intimal hyperplasias. High blood leukocyte counts during steady states in the absence of infection are significant laboratory risk factors for adverse complications. L-Citrulline as precursor amino acid was given orally twice daily in daily doses of approximately 0.1 g/kg in a pilot Phase II clinical trial during steady states in four homozygous sickle cell disease subjects and one sickle cell-hemoglobin C disease patient (ages 10-18). There soon resulted dramatic improvements in symptoms of well-being, raised plasma arginine levels, and reductions in high total leukocyte and high segmented neutrophil counts toward or to within normal limits. Continued L-citrulline supplementation in compliant subjects continued to lessen symptomatology, to maintain plasma arginine concentrations greater than control levels, and to maintain nearly normal total leukocyte and neutrophil counts. Side effects or toxicity from citrulline were not experienced. Oral L-citrulline may portend very useful for palliative therapy in sickle cell disease. Placebo-controlled, long-term trials are now indicated. (+info)Neurocognitive development of young children with sickle cell disease through three years of age. (6/62)
OBJECTIVE: To determine (1) the neurocognitive development of children with sickle cell disease (SCD) from 6 months through 36 months of age, (2) the independent and combined contributions of biomedical risk and parenting risk to child neurocognitive functioning, and (3) the independent and combined contributions of biomedical risk, parent cognitive processes, and family functioning to parent adjustment. METHOD: The study sample included 89 African American children and their parents served through the Duke University-University of North Carolina Comprehensive Sickle Cell Center. Measures of cognitive and psychomotor development were obtained at 6, 12, 24, and 36 months of age, and parents completed self-report measures of the cognitive processes of daily stress and attributional style, psychological adjustment, and family functioning. RESULTS: There was no significant decrease in psychomotor functioning (PDI) over time but cognitive functioning (MDI) declined, with a significant decrease occurring between the 12- and 24-month assessment points. At 24 months, poorer cognitive functioning was associated with parenting risk, in terms of a learned-helplessness attributional style, and biomedical risk, in terms of HbSS phenotype. Levels of psychological distress within the clinical range were reported by 24% of the parents, and poorer parent adjustment was associated with high levels of daily stress, less knowledge about child development, lower expectations of efficacy, and HbSC phenotype. CONCLUSIONS: The findings indicate that young children with SCD are at risk for neurocognitive impairment and provide support for the initiation of early intervention studies to promote neurocognitive development. (+info)A human embryonic hemoglobin inhibits Hb S polymerization in vitro and restores a normal phenotype to mouse models of sickle cell disease. (7/62)
The principle that developmentally silenced globin genes can be reactivated in adults with defects in beta-globin gene expression has been well established both in vitro and in vivo. In practice, levels of developmental stage-discordant fetal gamma globin that can be achieved by using currently approved therapies are generally insufficient to fully resolve typical clincopathological features of sickle cell disease. The therapeutic potential of another developmentally silenced globin--embryonic epsilon globin--has been difficult to evaluate in the absence of a convenient expression system or an appropriate experimental model. The current work analyzes the antisickling properties of an epsilon -globin-containing heterotetramer (Hb Gower-2) both in vitro as well as in vivo in a well-established mouse model of sickle cell anemia. These animals, expressing 100% human Hb S, display a chronic hemolytic anemia with compensatory marrow and extramedullary erythropoiesis, abundant circulating sickled erythrocytes, and chronic tissue damage evidenced by parallel histopathological and functional deficits. By comparison, related mice that coexpress Hb S as well as Hb Gower-2 exhibit normal physiological, morphological, histological, and functional attributes. Subsequent in vitro analyses substantiate results from whole-animal studies, indicating that the polymerization of deoxygenated Hb S can be significantly slowed by relatively small quantities of Hb Gower-2. Together, the in vivo and in vitro analyses suggest that reactivation of epsilon-globin gene expression would be therapeutically beneficial to adults with sickle phenotypes, and provide a rationale for detailed investigations into the molecular basis for its developmental silencing. (+info)The effect of hydroxyurea on vasculopathy in a child with sickle cell disease. (8/62)
We report serial CNS findings in a girl with sickle cell disease and stroke. Religious considerations precluded transfusion and bone marrow transplantation; therefore, she received single-agent hydroxyurea therapy for almost 6 years. MR angiography showed that vascular patency improved, although diffuse cerebral atrophy slowly worsened. Hydroxyurea can be effective in treating vasculopathy, but it might not prevent the progression of parenchymal damage in advanced disease. (+info)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.
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.
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.
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.
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 (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.
Erythrocyte deformability refers to the ability of red blood cells (erythrocytes) to change shape and bend without rupturing, which is crucial for their efficient movement through narrow blood vessels. This deformability is influenced by several factors including the cell membrane structure, hemoglobin concentration, and intracellular viscosity. A decrease in erythrocyte deformability can negatively impact blood flow and oxygen delivery to tissues, potentially contributing to various pathological conditions such as sickle cell disease, diabetes, and cardiovascular diseases.
The Mononuclear Phagocyte System (MPS) is a network of specialized immune cells distributed throughout the body, primarily consisting of monocytes, macrophages, and dendritic cells. These cells share a common bone marrow-derived precursor and play crucial roles in innate and adaptive immunity. They are involved in various functions such as:
1. Phagocytosis: engulfing and destroying foreign particles, microbes, and cellular debris.
2. Antigen presentation: processing and presenting antigens to T-cells to initiate an adaptive immune response.
3. Cytokine production: releasing pro- and anti-inflammatory cytokines to regulate immune responses and maintain tissue homeostasis.
4. Immune regulation: modulating the activity of other immune cells, including T-cells, B-cells, and natural killer (NK) cells.
The MPS is essential for maintaining tissue integrity, fighting infections, and orchestrating immune responses. Its components are found in various tissues, including the liver (Kupffer cells), spleen, lymph nodes, bone marrow, and connective tissues.
The conjunctiva is the mucous membrane that lines the inner surface of the eyelids and covers the front part of the eye, also known as the sclera. It helps to keep the eye moist and protected from irritants. The conjunctiva can become inflamed or infected, leading to conditions such as conjunctivitis (pink eye).
An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.
I'm sorry for any confusion, but "holography" is not a term that has a medical definition. Holography is a technique used to create 3D images, typically using laser light. It is commonly used in non-medical fields such as data storage, art, and security features on credit cards and banknotes. I'm here to help with medical information, so please feel free to ask me about any medical topics or questions you might have!
Microcirculation is the circulation of blood in the smallest blood vessels, including arterioles, venules, and capillaries. It's responsible for the delivery of oxygen and nutrients to the tissues and the removal of waste products. The microcirculation plays a crucial role in maintaining tissue homeostasis and is regulated by various physiological mechanisms such as autonomic nervous system activity, local metabolic factors, and hormones.
Impairment of microcirculation can lead to tissue hypoxia, inflammation, and organ dysfunction, which are common features in several diseases, including diabetes, hypertension, sepsis, and ischemia-reperfusion injury. Therefore, understanding the structure and function of the microcirculation is essential for developing new therapeutic strategies to treat these conditions.
In the context of medical terminology, "lenses" generally refers to optical lenses used in various medical devices and instruments. These lenses are typically made of glass or plastic and are designed to refract (bend) light in specific ways to help magnify, focus, or redirect images. Here are some examples:
1. In ophthalmology and optometry, lenses are used in eyeglasses, contact lenses, and ophthalmic instruments to correct vision problems like myopia (nearsightedness), hypermetropia (farsightedness), astigmatism, or presbyopia.
2. In surgical microscopes, lenses are used to provide a magnified and clear view of the operating field during microsurgical procedures like ophthalmic, neurosurgical, or ENT (Ear, Nose, Throat) surgeries.
3. In endoscopes and laparoscopes, lenses are used to transmit light and images from inside the body during minimally invasive surgical procedures.
4. In ophthalmic diagnostic instruments like slit lamps, lenses are used to examine various structures of the eye in detail.
In summary, "lenses" in medical terminology refer to optical components that help manipulate light to aid in diagnosis, treatment, or visual correction.
Pulse oximetry is a noninvasive method for monitoring a person's oxygen saturation (SO2) and pulse rate. It uses a device called a pulse oximeter, which measures the amount of oxygen-carrying hemoglobin in the blood compared to the amount of hemoglobin that is not carrying oxygen. This measurement is expressed as a percentage, known as oxygen saturation (SpO2). Normal oxygen saturation levels are generally 95% or above at sea level. Lower levels may indicate hypoxemia, a condition where there is not enough oxygen in the blood to meet the body's needs. Pulse oximetry is commonly used in hospitals and other healthcare settings to monitor patients during surgery, in intensive care units, and in sleep studies to detect conditions such as sleep apnea. It can also be used by individuals with certain medical conditions, such as chronic obstructive pulmonary disease (COPD), to monitor their oxygen levels at home.
Conjunctival diseases refer to a group of medical conditions that affect the conjunctiva, which is the thin, clear mucous membrane that covers the inner surface of the eyelids and the white part of the eye (known as the sclera). The conjunctiva helps to keep the eye moist and protected from irritants.
Conjunctival diseases can cause a range of symptoms, including redness, itching, burning, discharge, grittiness, and pain. Some common conjunctival diseases include:
1. Conjunctivitis (pink eye): This is an inflammation or infection of the conjunctiva that can be caused by viruses, bacteria, or allergies. Symptoms may include redness, itching, discharge, and watery eyes.
2. Pinguecula: This is a yellowish, raised bump that forms on the conjunctiva, usually near the corner of the eye. It is caused by an overgrowth of connective tissue and may be related to sun exposure or dry eye.
3. Pterygium: This is a fleshy growth that extends from the conjunctiva onto the cornea (the clear front part of the eye). It can cause redness, irritation, and vision problems if it grows large enough to cover the pupil.
4. Allergic conjunctivitis: This is an inflammation of the conjunctiva caused by an allergic reaction to substances such as pollen, dust mites, or pet dander. Symptoms may include redness, itching, watery eyes, and swelling.
5. Chemical conjunctivitis: This is an irritation or inflammation of the conjunctiva caused by exposure to chemicals such as chlorine, smoke, or fumes. Symptoms may include redness, burning, and tearing.
6. Giant papillary conjunctivitis (GPC): This is a type of allergic reaction that occurs in response to the presence of a foreign body in the eye, such as a contact lens. Symptoms may include itching, mucus discharge, and a gritty feeling in the eye.
Treatment for conjunctival diseases depends on the underlying cause. In some cases, over-the-counter medications or home remedies may be sufficient to relieve symptoms. However, more severe cases may require prescription medication or medical intervention. It is important to consult with a healthcare provider if you experience persistent or worsening symptoms of conjunctival disease.
Hemoglobin subunit alpha
Hemoglobin C
Hemoglobin A
Hemoglobin
List of MeSH codes (C16)
List of diseases (H)
List of MeSH codes (C15)
Constance Tom Noguchi
Swee Lay Thein
Iron-deficiency anemia
Hermann Lehmann
Marco Antonio Zago
University of Virginia School of Medicine
S. Samar Hasnain
STARD13
Maitree Bhattacharyya
Thalassemia
Genetic history of the African diaspora
Blood donation in India
Chukwuedu Nwokolo
Perfluoro tert-butylcyclohexane
Erythrocyte deformability
High-altitude adaptation in humans
Band 3 anion transport protein
Nitrite
Genetically modified animal
Carbon monoxide poisoning
Idiopathic pulmonary haemosiderosis
Greenland shark
Genetically modified organism
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Thalassemia32
- Hemoglobin SB+ (beta) thalassemia affects beta globin gene production. (healthline.com)
- If inherited with the Hb S gene, you will have hemoglobin S beta thalassemia. (healthline.com)
- Sickle beta-zero thalassemia is the fourth type of sickle cell disease. (healthline.com)
- occurs when an abnormal hemoglobin S gene and a beta thalassemia gene are inherited. (ms.gov)
- For example, in a recent study of 62 children and adolescents with hemoglobin SS or Sβ° thalassemia, 11 reticulocyte count had a significant association with jet velocity but hemoglobin, lactate dehydrogenase and bilirubin concentrations did not. (haematologica.org)
- Thalassemia, a condition that affects the production of hemoglobin. (medlineplus.gov)
- Sickle beta plus thalassemia affects about 8 percent of people with sickle cell disease. (whattoexpect.com)
- Thalassemia, sickle cell disease and sickle-HbC have been found to be associated with cold agglutinin disease. (ispub.com)
- 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)
- Insufficient healthcare infrastructure and low levels of disease diagnosis and treatments, rising prevalence of hemoglobin disorders such as Sickle Cell Disease, thalassemia, Hb C, and Hb E are expected to be high impact growth drivers for the market. (reportsanddata.com)
- Hemoglobinopathy disorders include sickle cell anemia, hemoglobin C disease, hemoglobin S-C disease, and various forms of thalassemia. (reportsanddata.com)
- During the previous decade, a few pharmacologic areas have been explored for their capability to decrease sickle cell disease and beta-thalassemia by expanding the union of fetal hemoglobin in adults. (reportsanddata.com)
- B19 is the primary etiologic agent causing TAC in patients with chronic hemolytic anemias (e.g., sickle cell disease, hemoglobin SC disease, hereditary spherocytosis, alpha-thalassemia, and autoimmune hemolytic anemia) (22,23). (cdc.gov)
- If the Hb S gene is inherited along with the haemoglobin SB+ gene, then the person will get Haemoglobin S Beta Thalassemia. (firstcry.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 several different types of sickle cell disease, the most common types are homozygous sickle cell disease (SS disease), sickle cell-hemoglobin C disease (SC disease) and sickle-cell beta thalassemia (Sß+ or Sß0 disease). (stjude.org)
- People with sickle cell disease inherit a hemoglobin S gene from one parent and another abnormal hemoglobin from the other parent (i.e., hemoglobin S, hemoglobin C or beta thalassemia). (stjude.org)
- Sequestration crisis can occur in older children with SC disease and Sickle Beta-Plus Thalassemia. (texas.gov)
- In one (mostly) group of other diseases, thalassemia, small amounts of normal or sometimes abnormal hemoglobins are produced due to problems and pathologies of the globin gene control. (hemolevel.com)
- 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)
- Beta thalassemia affects the hemoglobin in the red blood cells. (stjude.org)
- People with beta thalassemia do not make enough hemoglobin. (stjude.org)
- People with beta thalassemia trait have both normal hemoglobin A and the abnormal beta thalassemia (β) hemoglobin in their red blood cells. (stjude.org)
- People with beta thalassemia trait do not have beta thalassemia disease or sickle cell disease. (stjude.org)
- If one parent has beta thalassemia trait and the other parent has normal hemoglobin A, there is a 50 percent (1 in 2) chance with each pregnancy of having a child with beta thalassemia trait . (stjude.org)
- Parents who have beta thalassemia trait can have a child with beta thalassemia disease or sickle cell disease (Sβ+ Thalassemia or Sβ0 thalassemia disease). (stjude.org)
- How is sickle beta thalassemia disease inherited? (stjude.org)
- People with beta thalassemia trait also can have a child with beta thalassemia disease. (stjude.org)
- Beta thalassemia disease is not a form of sickle cell disease, but it is a serious lifelong illness. (stjude.org)
- People who have beta thalassemia disease do not make enough hemoglobin. (stjude.org)
- If both parents have beta thalassemia trait there is a 25 percent (1 in 4) chance with each pregnancy of having a child with Beta Thalassemia disease . (stjude.org)
- Beta Thalassemia disease is a lifelong illness that can result in serious health problems. (stjude.org)
Fetal hemoglobin17
- The drugs are called HDAC inhibitors, and the investigators have early evidence one called panobinostat can reactivate after birth the gene that produces fetal hemoglobin, which cannot sickle, says Abdullah Kutlar, MD, director of the Center for Blood Disorders at the Medical College of Georgia and Augusta University Health. (news-medical.net)
- Histone deacetylases, or HDACs, are enzymes that are among the many ways gene expression gets turned down, a natural process for some genes, like the gamma-globin gene that makes fetal hemoglobin, as we move from childhood to adulthood. (news-medical.net)
- Fetal hemoglobin enables a developing baby to capture oxygen from mother's blood while the beta-globin gene produces adult hemoglobin that carries oxygen. (news-medical.net)
- Within the first few months after birth, most babies have little to no fetal hemoglobin. (news-medical.net)
- That is important for sickle cell because we know in adults that the fetal hemoglobin gene is shut down and we know fetal hemoglobin works very well as a disease modifier. (news-medical.net)
- Two HDACs are involved in silencing the fetal hemoglobin gene and panobinostat is a pan-HDAC inhibitor, which means it silences more than one HDAC. (news-medical.net)
- Hydroxyurea, the first sickle cell drug approved by the U.S. Food and Drug Administration back in 1998, also increases fetal hemoglobin, although precisely how remains unclear, and it's also used for some cancers. (news-medical.net)
- Kutlar notes that if panobinostat continues to show promise, his next steps will include pairing the two fetal hemoglobin promoters to see if there is beneficial synergy. (news-medical.net)
- The investigators will be monitoring study participants' levels of the non-sickling fetal hemoglobin as well as levels of F-cells, a subpopulation of red blood cells that contain fetal hemoglobin. (news-medical.net)
- Pace has shown panobinostat increases fetal hemoglobin expression both in red blood cells in culture and in mouse models of sickle cell disease by enabling reactivation of the fetal hemoglobin gene. (news-medical.net)
- alpha chains combine with delta chains to constitute HbA-2, which with fetal hemoglobin (HbF) makes up the remaining 3% of adult hemoglobin. (wikipedia.org)
- Hemoglobin (Hgb) F , fetal hemoglobin. (medlineplus.gov)
- 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)
- Fetal hemoglobin (HbF) is a major disease modifier, and is associated with a reduction in the occurrence of several complications such as VOC, ACS, and death. (haematologica.org)
- On the other hand, genome altering could reestablish articulation of fetal hemoglobin or target explicit changes to reestablish articulation of the wild-type β-globin quality. (reportsanddata.com)
- The earliest manifestation is usually in early childhood, as babies are protected by elevated levels of fetal hemoglobin (HbF) in the first 6 months 3 . (radiopaedia.org)
- It is noted a wide interindividual variety of disease severity that has been suggested as result of polymorphisms in several genes 12 , mainly of fetal hemoglobin which has been pointed as a target for promising treatments 13 . (bvsalud.org)
Genes9
- It is caused by homozygous inheritance of genes for hemoglobin. (msdmanuals.com)
- Among the great discoveries that led to the design of genetic approaches to cure these disorders is the discovery of the β-globin locus control region and several associated transcription factors, which determine hemoglobin switching as well as high-level, erythroid-specific expression of genes at the ß-globin locus. (reportsanddata.com)
- A person gets this type when he or she inherits copies of the S haemoglobin genes from both the parents. (firstcry.com)
- Variations of hemoglobin protein genes generate different types of hemoglobin. (hemolevel.com)
- In sickle cell trace, the heterozygosis for genes of normal (HbA) and mutant (HbS) hemoglobins (AS genotype) does not exhibit clinical symptoms of the disease under physiological conditions 3,5 . (bvsalud.org)
- Individuals with Sickle Hemoglobin-C Disease (SC) have a slightly different substitution in their beta globin genes that produces both hemoglobin C and hemoglobin S. (amazonaws.com)
- DNA analysis: This test is used to investigate alterations and mutations in the genes that produce hemoglobin components. (amazonaws.com)
- It may be performed to determine whether someone has one or two copies of the Hb S mutation or has two different mutations in hemoglobin genes (e.g. (amazonaws.com)
- This type of disease is caused by a genetic mutation in a single base of the hemoglobin genes (page 58). (bartleby.com)
Types of sickle cell di8
- What are the types of sickle cell disease? (healthline.com)
- These types of sickle cell disease are more rare and usually don't have severe symptoms. (healthline.com)
- Here's what parents should know about sickle cell anemia and other types of sickle cell disease (SCD) in young children. (whattoexpect.com)
- There are four different types of sickle cell disease caused by the different mutations in these chains. (firstcry.com)
- Those with this type often suffer worse symptoms and at a higher rate than those with other types of sickle cell disease. (firstcry.com)
- There are several types of sickle cell disease. (amazonaws.com)
- Depending on whether the hemoglobin beta S gene is inherited with another beta S gene or with a separate beta gene mutation, different types of sickle cell disease develop. (healthshaft.com)
- These are the three most common types of sickle cell disease in the United States. (stjude.org)
Trait22
- Persons with hemoglobin C trait (Hb AC) are phenotypically normal, with no clinically evident symptoms, while those with hemoglobin C disease (Hb CC) may have a mild degree of hemolytic anemia and sequelae of hemolysis including jaundice, gallstones, or splenomegaly. (medscape.com)
- Hemoglobin C trait (Hb AC) is clinically silent. (medscape.com)
- People who only inherit a mutated gene (hemoglobin S) from one parent are said to have sickle cell trait. (healthline.com)
- Children are only at risk for sickle cell disease if both parents carry sickle cell trait. (healthline.com)
- All babies born in Mississippi are tested for hemoglobin disease and trait. (ms.gov)
- Sickle cell trait is not a disease. (ms.gov)
- Most people with sickle cell trait do not have any health effects because they have some normal A hemoglobin. (ms.gov)
- If just one parent passes the sickle cell gene to the child, the child will be a carrier of the disease, which is known as having sickle cell trait (SCT), but won't usually have symptoms of the disease. (whattoexpect.com)
- 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)
- Sickle cell trait is a carrier condition for sickle cell disease. (stjude.org)
- People with sickle cell trait inherit one gene for normal hemoglobin A and one gene for defective hemoglobin S. (stjude.org)
- If both parents have hemoglobin S trait there is a one-in-four chance with each pregnancy the child will have SS disease. (stjude.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)
- Someone who inherits hemoglobin S from one parent and normal hemoglobin (A) from the other parent will have sickle cell trait. (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)
- 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)
- Individuals with blood genotype SC and SS are said to have sickle cell disease while AS is known as sickle cell trait. (amarecourse.com)
- Sickle cell trait is a condition in which a person inherits a mutated gene (haemoglobin S) from only one parent. (healthshaft.com)
- People with the sickle cell trait produce both normal and sickle cell disease hemoglobin because they have one normal and one faulty haemoglobin gene. (healthshaft.com)
- In the U.S., about one in 13 Black or African American children is born with the sickle cell trait , according to the Centers for Disease Control and Prevention. (sideeffectspublicmedia.org)
- A baby has a 25 percent chance of being born with sickle cell disease if both parents have the trait. (sideeffectspublicmedia.org)
- To learn more about the risk of inheriting hemoglobin SS disease or SC disease, please see Sickle Cell trait and Hemoglobin C trait. (stjude.org)
Hemoglobinopathies6
- Although the clinical complications of hemoglobin C disease are not severe, inheritance with other hemoglobinopathies such as hemoglobin S may have significant consequences. (medscape.com)
- Overview of Hemoglobinopathies Hemoglobinopathies are genetic disorders affecting the structure or production of the hemoglobin molecule. (msdmanuals.com)
- Although many hemoglobinopathies exist, those resulting in proliferative retinopathy are limited to sickle cell disease. (medscape.com)
- Hemoglobinopathies is a genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule. (reportsanddata.com)
- The growth of the hemoglobinopathies market is driven by the increasing prevalence of hemoglobinopathies in developed countries, high-level diseases, a variety of government support initiatives and NGO funding. (reportsanddata.com)
- But some malformed hemoglobins cause a group of genetic diseases called hemoglobinopathies. (hemolevel.com)
Molecule2
- The disease results from a mutation in a gene coding for the beta chain of the hemoglobin molecule termed HbS. (radiopaedia.org)
- The mammalian hemoglobin molecule can bind (carry) up to four oxygen molecules. (ipfs.io)
Electrophoresis12
- Sickling is identified in a sickling preparation, and hemoglobin electrophoresis establishes the diagnosis. (msdmanuals.com)
- A blood test called a hemoglobin electrophoresis can also determine which type you might carry. (healthline.com)
- What is hemoglobin electrophoresis? (medlineplus.gov)
- Hemoglobin electrophoresis is a test that measures the different types of hemoglobin in the blood . (medlineplus.gov)
- A hemoglobin electrophoresis test applies an electric current to a blood sample. (medlineplus.gov)
- Hemoglobin electrophoresis measures hemoglobin levels and looks for abnormal types of hemoglobin. (medlineplus.gov)
- Why do I need hemoglobin electrophoresis? (medlineplus.gov)
- What happens during hemoglobin electrophoresis? (medlineplus.gov)
- You don't need any special preparations for a hemoglobin electrophoresis test. (medlineplus.gov)
- Are there any risks to hemoglobin electrophoresis? (medlineplus.gov)
- 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)
- 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)
Hemoglobinopathy4
- Hemoglobin C Disease Hemoglobin C disease is a hemoglobinopathy that causes symptoms of a hemolytic anemia. (msdmanuals.com)
- Sickle Cell Disease Sickle cell disease (a hemoglobinopathy) causes a chronic hemolytic anemia occurring almost exclusively in people with African ancestry. (msdmanuals.com)
- Sickle cell disease (SCD) (historically also known as drepanocytosis) is a hereditary (autosomal recessive) condition resulting in the formation of abnormal hemoglobin (a hemoglobinopathy ), which manifests as multisystem ischemia and infarction, as well as hemolytic anemia . (radiopaedia.org)
- Sickle cell disease is the most famous hemoglobinopathy, which is the first human disease, the process of which is understood at the molecular level. (hemolevel.com)
Form of sickle cell di4
- Hemoglobin SS (HbSS) is the most common and severe form of sickle cell disease, accounting for around 65 percent of cases (and commonly called sickle cell anemia). (whattoexpect.com)
- Children with Hemoglobin Sickle C disease (SC disease - a milder form of sickle cell disease) may have a big spleen, but this does not happen until they are about 4 years of age or older. (texas.gov)
- Individuals with the most severe form of sickle cell disease also experience the most severe symptoms at a higher rate. (healthshaft.com)
- Sickle cell crisis is an acute form of sickle cell disease where pain and sickling are extensive (Byar, 2013). (bartleby.com)
HbSS1
- The haemoglobin formed by this type of SCD is known as HbSS. (firstcry.com)
Centers for Diseas3
- The Centers for Disease Control and Prevention (CDC) estimates that sickle cell disease affects approximately 100,000 Americans, occurring in about 1 in 365 Black births and 1 in 16,300 Hispanic births. (whattoexpect.com)
- Centers for Disease Control and Prevention. (cdc.gov)
- The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)
Genetic6
- Sickle cell anemia, or sickle cell disease (SCD), is a genetic disease of the red blood cells (RBCs). (healthline.com)
- The National Institutes of Health (NIH) estimates that more than 2 million U.S. residents carry the genetic mutation, with more than 100,000 actively living with the disease. (medstarhealth.org)
- Sickle cell disease (SCD) has its roots in genetic mutations that cause a single amino acid change in the β-globin chain of hemoglobin A and thereby confer protection against malaria. (nih.gov)
- Sickle cell disease (SCD) includes genetic blood disorders in which morphologic alterations of erythrocytes are caused by presence of the sickle hemoglobin (HbS). (bvsalud.org)
- Sickle disease refers to a group of genetic disorders in red blood cells that cause hemoglobin, the oxygen-carrying protein, to break down. (healthshaft.com)
- SCD is a genetic disease that predominantly affects black people of African decent (Gersten, 2016). (bartleby.com)
Disorders7
- H emoglobin diseases are a group of blood disorders passed down through families in which there is an abnormal production or structure of the hemoglobin protein. (ms.gov)
- It's most often used to help diagnose anemia, sickle cell disease, and other hemoglobin disorders. (medlineplus.gov)
- Cold agglutinin disease can also be associated with lymphoproliferative disorders and multiple myeloma. (ispub.com)
- According to WHO, around 300,000 to 500,000 children born each year are affected by hemoglobin disorders. (reportsanddata.com)
- The SC Department of Health and Environmental Control (DHEC) Newborn Screening Program now screens for 54 disorders. (scdhec.gov)
- The test panel has since evolved to include multiple disorders such as cystic fibrosis (CF), congenital hypothyroidism, congenital adrenal hyperplasia (CAH), hemoglobin diseases and traits such as sickle cell, severe combined immunodeficiency (SCID), various inborn errors of metabolism, Spinal Muscular Atrophy (SMA), and most recently Krabbe Disease. (scdhec.gov)
- To evaluate the manifestations of sickle cell disease on the orofacial complex through a review of current literature concerning prevalence of dental caries, periodontal disease, temporomandibular joint disorders and radiographic alterations of maxillofacial bones. (bvsalud.org)
Type of hemoglobin7
- This type of hemoglobin is found in unborn babies and newborns. (medlineplus.gov)
- Hemoglobin (Hgb) S. This type of hemoglobin is found in sickle cell disease . (medlineplus.gov)
- Hemoglobin (Hgb) C. This type of hemoglobin does not carry oxygen well. (medlineplus.gov)
- Hemoglobin (Hgb) E. This type of hemoglobin is mostly found in people of Southeast Asian descent. (medlineplus.gov)
- Each type of hemoglobin can then be measured individually. (medlineplus.gov)
- Normal red blood cells contain hemoglobin A. People with sickle cell disease have red blood cells containing mostly hemoglobin S, an abnormal type of hemoglobin. (stjude.org)
- The most common type of hemoglobin in mammals contains four such subunits. (ipfs.io)
Complications9
- The spleen may have to be removed due to complications of sickle cell disease in an operation known as a splenectomy. (healthline.com)
- 5 However, most SCD patients have lower HbF levels while not receiving disease-modifying therapy, and for some complications, such as stroke, the risk reduction associated with HbF has not been quantified in large cohorts. (haematologica.org)
- Several other HT have been associated with SCD-related complications, notably elevated white blood cell (WBC) count and neutrophil count with survival, 2 , 6 , 7 low hemoglobin (Hb) levels with composite severe outcomes and death, 7 , 8 and platelet (PLT) count with ACS. (haematologica.org)
- Treatments can help relieve some of the signs, symptoms, and complications of S, C disease (Hb S/C). Children who receive early and on-going treatment can live healthy lives. (babysfirsttest.org)
- Persons with diabetes are at increased risk for serious complications (e.g., blindness, kidney failure, nontraumatic lower-extremity amputations, and cardiovascular disease) ( 1 ). (cdc.gov)
- Objective: To determine the frequency and severity of acute splenic complications in children and adolescents with sickle cell (SC) hemoglobin C disease. (elsevierpure.com)
- Methods: The medical records of 271 patients with SC disease seen at our center were reviewed to evaluate the incidence and severity of acute complications involving the spleen. (elsevierpure.com)
- Conclusions: We conclude that (1) acute splenic complications in children and adolescents with SC disease are relatively uncommon, (2) most episodes of ASSC occur in preadolescents, (3) ASSC can be life threatening, even in younger children, and (4) prior splenomegaly is not a good predictor of ASSC. (elsevierpure.com)
- He is inspired by his wife, Brenda Williams, who died at age 36 from sickle cell disease complications. (sideeffectspublicmedia.org)
Copies of the hemoglobin S gene1
- It occurs when you inherit copies of the hemoglobin S gene from both parents. (healthline.com)
HbSC3
- Hemoglobin SC disease (HbSC) is a relatively mild form, accounting for around 25 percent of cases. (whattoexpect.com)
- Hemoglobin SC (HbSC) disease , although a sickle cell disease subtype, with similarities to the classic condition, should ideally be considered as a distinct pathological entity 7 . (radiopaedia.org)
- Individuals with one HbS beta chain and one hemoglobin C (HbC) beta chain, have a subtype of sickle cell disease known as hemoglobin SC (HbSC) disease 7 . (radiopaedia.org)
Hemolytic anemia1
- Cold agglutinin disease or syndrome is a relatively uncommon autoimmune hemolytic anemia presenting in the middle aged or elderly (1). (ispub.com)
Mutations1
- Sickle cell disease (SCD), the most frequent monogenic disease worldwide, is caused by mutations in the β-globin gene. (haematologica.org)
Subunit4
- Hemoglobin subunit alpha, Hemoglobin, alpha 1, is a hemoglobin protein that in humans is encoded by the HBA1 gene. (wikipedia.org)
- Hemoglobin subunit alpha has been shown to interact with hemoglobin subunit beta (HBB). (wikipedia.org)
- The name hemoglobin is derived from the combination of the terms heme and globin, suggesting that each subunit of hemoglobin is a globular protein in the heme group. (hemolevel.com)
- The name hemoglobin is derived from the words heme and globin , reflecting the fact that each subunit of hemoglobin is a globular protein with an embedded heme group. (ipfs.io)
Clinical7
- Hemoglobin S-C disease is suspected in patients whose clinical features suggest sickle cell disease or whose red blood cells demonstrate sickling. (msdmanuals.com)
- Sickle cell disease is known to have a wide spectrum of clinical presentations from completely asymptomatic to a severe overwhelming crisis. (radiopaedia.org)
- Algic crises is the most common and important clinical symptom of this disease 9 . (bvsalud.org)
- KDIGO 2012 Clinical Practice Guideline for the Evaluation and Management of Chronic Kidney Disease. (legehandboka.no)
- Diabetes management in chronic kidney disease: Synopsis of the KDIGO 2022 clinical practice guideline update. (legehandboka.no)
- Brenda Williams was part of a clinical trial in the 1980s for the first-ever drug to help manage sickle cell disease. (sideeffectspublicmedia.org)
- Clinical findings associated with homozygous sickle cell disease in the Barbadian population--do we need a national SCD registry? (ianhambleton.com)
Inherits3
- A person with this condition inherits a sickle cell ('S') gene from one parent and an abnormal hemoglobin ('C') gene from the other. (dignityhealth.org)
- This is the second most common type of SCD, and it happens when one inherits the haemoglobin (Hb) C gene from one parent and the haemoglobin S gene from the other parent. (firstcry.com)
- But when a person inherits two copies - one from each biological parent - they are born with sickle cell disease. (sideeffectspublicmedia.org)
Less severe3
- that causes symptoms similar to those of sickle cell disease, but usually less severe. (msdmanuals.com)
- The SC disease is the most second common manifestation of SCD, presenting less severe symptoms 4 , and is characterized by heterozygosis of two mutant hemoglobins, HbS and HbC (SC genotype). (bvsalud.org)
- This type of sickle cell disease is less severe than hemoglobin SS disease because the body produces some normal haemoglobin. (healthshaft.com)
Aberrant hemoglobin1
- Sickle cell disease is caused by a mutation in the beta globin gene, which results in sickle cell disease hemoglobin, or Hb S, aberrant hemoglobin. (healthshaft.com)
Prevalence4
- The prevalence of detectable hemoglobin (Hb) C in people in the. (msdmanuals.com)
- 1 , 4 , 5 The prevalence and natural history of elevated jet velocity in children with sickle cell disease at steady state are largely unknown. (haematologica.org)
- The prevalence of restless legs syndrome across the full spectrum of kidney disease. (legehandboka.no)
- This article is based on the master's degree dissertation - Luciana Galve Alleo entitled: "Prevalence of anemia and relationship between the concentration of hemoglobin in mothers and children enrolled in Basic Health Units of Santa Isabel" held in September of 2013. (bvsalud.org)
Anemia15
- An example of hemoglobin disease is sickle cell anemia. (ms.gov)
- Sickle cell anemia mostly affects people of African descent but the disease can also affect people of Hispanic, Arabic, Indian or Mediterranean descent. (ms.gov)
- Sickle cell anemia is a congenital form of anemia, and the most common type of sickle cell disease. (whattoexpect.com)
- Children with hemoglobin SS have chronic anemia. (whattoexpect.com)
- This severe form of the disease is called sickle cell anemia. (dignityhealth.org)
- [ 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)
- The term sickle cell disease is preferred to sickle cell anemia for the name of the condition, not least because the former term reflects the fact that the condition has multisystem effects, rather than just a severe form of anemia. (radiopaedia.org)
- We'll give you a routine blood test to screen for sickle cell anemia, an inherited disease which can cause tiredness, shortness of breath, dizziness and coldness in your hands and feet. (sc.edu)
- The unadulterated mutation encourages hemoglobin to clump and deform red blood cells, leading to anemia, increased hemolysis, and vascular occlusions that affect multiple organs. (nih.gov)
- All these diseases cause anemia. (hemolevel.com)
- Sickle cell anemia is an inherited disease in which the red blood cells, normally disc-shaped, become crescent shaped. (health.am)
- The basic cause of sickle cell anemia involves hemoglobin, a component of the red cells in the blood. (amazonaws.com)
- A blood test can check for hemoglobin S- the defective form of hemoglobin that underlies sickle cell anemia. (amazonaws.com)
- Sickle cell: One of the first inherited diseases to be unraveled at the level of DNA was sickle-cell anemia which is defined as abnormal, crescent-shaped red blood cells that results from a single change in the amino acid sequence of the cell's hemoglobin, which causes the cell to contort, especially under low-oxygen conditions. (bartleby.com)
- This chapter teaches me that Sickle-Cell Anemia is a painful disease in which oxygen-carrying red blood cells change shape and clog the finest parts of the circulatory system (page 57). (bartleby.com)
Mutation5
- Sickle cell disease is an inherited disorder caused by a mutation in a gene involved in telling the body to make red blood cells. (whattoexpect.com)
- In addition, strategies to correct the underlying mutation which causes sickle cell disease are being pursued utilizing newly developed gene editing tools, and work in the laboratory to develop methods for efficient editing of hematopoietic stem cells is underway. (nih.gov)
- After the hemoglobin molecules give up their oxygen, some of them may cluster together and form long, rod-like structures that become stiff and assume a sickle shape and gene mutation is also leads to inherited one gene for hemoglobin S from each parent. (amazonaws.com)
- A mutation in the gene that signals your body to generate the nutrient compound that makes plasma red and allows red blood cells to transmit oxygenated blood throughout your body causes sickle cell anaemia (sickle cell disease hemoglobin). (healthshaft.com)
- A single mutation in the gene for the blood protein hemoglobin can affect its ability to transport oxygen around the body. (bartleby.com)
Hematocrit2
Gene is inherited2
Globin chains1
- Hemoglobin consists mostly of proteins (globin chains) and these proteins are made up of chains of amino acids. (hemolevel.com)
Homozygous4
- Both the heterozygous and homozygous states may induce erythrocyte dehydration (xerocytosis) and an elevated mean corpuscular hemoglobin concentration (MCHC) may be noted on a complete blood count. (medscape.com)
- Causes of death and early life determinants of survival in homozygous sickle cell disease: The Jamaican cohort study from birth. (ianhambleton.com)
- Homozygous sickle cell disease in Uganda and Jamaica a comparison of Bantu and Benin haplotypes. (ianhambleton.com)
- Albuminuria and renal function in homozygous sickle cell disease: observations from a cohort study. (ianhambleton.com)
Chains10
- Hemoglobin molecules consist of polypeptide chains whose chemical structure is genetically. (msdmanuals.com)
- Hb A, the major hemoglobin in adults, is composed of four polypeptide chains, two alpha chains, and two beta chains (alpha 2 beta 2 ) held by noncovalent bonds. (medscape.com)
- The term "sickle cell disease" applies to all patients who have two abnormal beta chains. (radiopaedia.org)
- Haemoglobin has two chains, the alpha and beta chains. (firstcry.com)
- The amino acid chains of globin proteins in hemoglobin differ among different species, although the differences increase with the distance of growth between species. (hemolevel.com)
- For example, the most common hemoglobin chains in humans and chimpanzees are similar, while this same chain differs from the most common amino acid chain of guerrillas by only one amino acid in the alpha and beta-globin protein chains. (hemolevel.com)
- Like proteins other than hemoglobin, differences in DNA chains between species are greater than differences in amino acid chains coded by them, as different DNA chains may point to the same amino acid. (hemolevel.com)
- Hemoglobin consists of protein subunits (the "globin" molecules), and these proteins, in turn, are folded chains of a large number of different amino acids called polypeptides . (ipfs.io)
- Abnormal hemoglobin chains are the main issue with SCD (Byar, 2013). (bartleby.com)
- Normal hemoglobin chains are comprised of 99% hemoglobin A (HbA) however, in SCD an abnormal form of the gene, hemoglobin S (HbS) is present in approximately 40% of total hemoglobin (Byar, 2013). (bartleby.com)
Genotype2
- Blood genotype indicates of the type of protein (Haemoglobin) that is in the red blood cells. (amarecourse.com)
- Title : The accuracy of hospital ICD-9-CM codes for determining Sickle Cell Disease genotype Personal Author(s) : Snyder, Angela B.;Lane, Peter A.;Zhou, Mei;Paulukonis, Susan T.;Hulihan, Mary M. (cdc.gov)
Chain of hemoglobin1
- It is formed when the N-terminal valine of the beta chain of hemoglobin A is modified by the addition of a sugar moiety. (medscape.com)
Affects the hemoglobin1
- SCD is often detected during pregnancy or at birth and affects the hemoglobin - the protein inside the red blood cells (RBC) that carry oxygen through your body - in the blood. (dignityhealth.org)
Carries oxygen5
- Hemoglobin is the protein in red blood cells that carries oxygen. (healthline.com)
- Hemoglobin is a protein in your red blood cells that carries oxygen from your lungs to the rest of your body. (medlineplus.gov)
- Haemoglobin is a protein that is present in the red blood cells that carries oxygen to the different parts of the body. (firstcry.com)
- Hemoglobin in the blood carries oxygen from the respiratory organs ( lungs or gills ) to the rest of the body (i.e. the tissues). (ipfs.io)
- All red blood cells contain hemoglobin, which carries oxygen from the lungs to all parts of the body. (stjude.org)
People with sickle cell di4
- In the United States, most people with sickle cell disease are of African ancestry. (medlineplus.gov)
- It affects just 2 percent of people with sickle cell disease. (whattoexpect.com)
- Many people with sickle cell disease live long and productive lives. (stjude.org)
- The vast majority of people with sickle cell disease are Black. (sideeffectspublicmedia.org)
Sickle cell an2
- ABSTRACT The majority of patients with sickle-cell anaemia live in the underdeveloped nations where endemic parasitic diseases are prevalent and this may exacerbate the severity of steady-state anaemia in infected patients. (who.int)
- The defective hemoglobin in sickle cell anaemia causes red blood cells to become hard, sticky, and malformed. (healthshaft.com)
Protein in red blood1
- It is considered that this disease is the result of when two abnormal Hemoglobin, a protein in red blood cells that passed down from parents to child as an autosomal recessive pattern. (bartleby.com)
Normal7
- Hemoglobin C (Hb C) is a structural variant of normal hemoglobin A (Hb A) caused by an amino acid substitution of lysine for glutamic acid at position six of the beta hemoglobin chain. (medscape.com)
- Hemoglobin C disease (Hb CC) is a mild disorder that generally does not cause any symptoms and is associated with a normal life expectancy. (medscape.com)
- some patients even have normal hemoglobin levels. (msdmanuals.com)
- This separates normal and abnormal types of hemoglobin. (medlineplus.gov)
- In 1957, Ingram showed that hemoglobin Hb S differed from normal hemoglobin (Hb A) by a single amino acid substitution. (medscape.com)
- If your baby's newborn screening result for S, C disease (Hb S/C) was out of the normal range, your baby's doctor or the state screening program will contact you to arrange for your baby to have additional testing. (babysfirsttest.org)
- Hemoglobin A1c (glycated hemoglobin) reflects the average blood glucose concentration over the course of the RBC lifespan, roughly 120 days in normal individuals. (medscape.com)
Progenitor lines1
- Hemoglobin is also found outside the red blood cells and progenitor lines that produce them. (hemolevel.com)
Adults1
- Background Elevation of echocardiography-determined tricuspid regurgitant jet velocity predicts high systolic pulmonary artery pressure and early mortality in adults with sickle cell disease. (haematologica.org)
Genetics1
- There are over 600 hemoglobin diseases that have been medically defined by the American College of Medical Genetics. (ms.gov)
Disorder6
- Sickle cell disease is an inherited disorder that causes the body to make stiff, sickle-shaped red blood cells. (medlineplus.gov)
- You may need testing if you have symptoms of a hemoglobin disorder. (medlineplus.gov)
- You may also want testing if you are at risk for having a child with sickle cell disease or another inherited hemoglobin disorder. (medlineplus.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)
- Sickle cell disease is an inherited blood disorder affecting red blood cells. (stjude.org)
- Hemoglobin S causes a sickling disorder. (healthshaft.com)
Traits1
- Together, this group of diseases where two abnormal traits are inherited is referred to as the sickle cell diseases (SCD). (medstarhealth.org)
Blood cells16
- Hemoglobin is the oxygen-carrying component of red blood cells, and with sickle cell disease it's inefficient at this fundamental role. (news-medical.net)
- A person with SCD has unusual hemoglobin molecules that deform the ordinarily round red blood cells into a sickle, or crescent, shape. (dignityhealth.org)
- The pigmentary changes are believed to be secondary to the liberation of free iron as a result of hemolysis of red blood cells that contain the affected hemoglobin. (medscape.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)
- The abnormal blood cells can place every major organ at risk of injury and disease. (medstarhealth.org)
- In SCD, the bone marrow produces red blood cells containing defective sickle hemoglobin. (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 Cellular and Molecular Therapeutics Laboratory, led by Dr. John F. Tisdale, is working on multiple strategies both in the laboratory and in the clinic to cure sickle cell disease by repairing or replacing the precursor bone marrow cells that give rise to sickled red blood cells. (nih.gov)
- Hemoglobin (spelled hemoglobin and abbreviated HB or HGB) is a metalloprotein transporting iron-rich oxygen found in red blood cells of vertebrates and in the tissues of some insatiable. (hemolevel.com)
- In 1851 Otto Funk published a series of articles in which he slowed down the hemoglobin crystals by evaporating the solution with a protein solution after diluting the red blood cells with the help of solutions such as pure water, alcohol, or ether. (hemolevel.com)
- Many manifestations of this disease are a result of the fragility and inflexibility of the sickle red blood cells. (health.am)
- also spelled haemoglobin (United Kingdom spelling) and abbreviated Hb or Hgb , is the iron -containing oxygen -transport metalloprotein in the red blood cells of all vertebrates [4] (with the exception of the fish family Channichthyidae [5] ) as well as the tissues of some invertebrates . (ipfs.io)
- [16] In 1851, [17] German physiologist Otto Funke published a series of articles in which he described growing hemoglobin crystals by successively diluting red blood cells with a solvent such as pure water, alcohol or ether, followed by slow evaporation of the solvent from the resulting protein solution. (ipfs.io)
- Sickle cell disease causes a person's blood cells to change from their typical doughnut shape to the shape of a banana or a sickle. (sideeffectspublicmedia.org)
- U.S. physicians first understood sickle cell disease over a century ago, when an Illinois doctor observed the blood cells of a Black dentistry student suffering unexplained pains. (sideeffectspublicmedia.org)
- A person with sickle cell disease has red blood cells that can become "sickle or banana" shaped. (stjude.org)
Carry oxygen2
- [12] In these organisms, hemoglobins may carry oxygen, or they may act to transport and regulate other small molecules and ions such as carbon dioxide, nitric oxide, hydrogen sulfide and sulfide. (ipfs.io)
- The hemoglobin molecules in each red blood cell carry oxygen from the lungs to organs and tissues and then bring back carbon dioxide for removal by the lungs. (amazonaws.com)
Adolescents with sickle cell di1
- Many adolescents with sickle cell disease experience delayed puberty (the average delay is about two years). (stjude.org)
Tissues3
- Hemoglobin molecules are found exclusively in erythrocytes, where their main function is to transport oxygen to tissues. (medscape.com)
- The role of hemoglobin in these tissues is an antioxidant and a regulator of iron metabolism rather than oxygen transport. (hemolevel.com)
- In these tissues, hemoglobin has a non-oxygen-carrying function as an antioxidant and a regulator of iron metabolism . (ipfs.io)
Chronic kidney6
- Evaluation and Management of Chronic Kidney Disease. (legehandboka.no)
- Global, regional, and national burden of chronic kidney disease, 1990-2017: a systematic analysis for the Global Burden of Disease Study 2017. (legehandboka.no)
- Early identification and management of chronic kidney disease: summary of NICE guidance. (legehandboka.no)
- Dapagliflozin in Patients with Chronic Kidney Disease. (legehandboka.no)
- Effects of Dapagliflozin on Hospitalizations in Patients With Chronic Kidney Disease A Post Hoc Analysis of DAPA-CKD. (legehandboka.no)
- Renin angiotensin system blockade and cardiovascular outcomes in patients with chronic kidney disease and proteinuria: a meta-analysis. (legehandboka.no)
Individuals3
- Individuals with Hb SC have similar symptoms to individuals with Hb SS. (healthline.com)
- Individuals with sickle cell disease can pursue a variety of vocations and professions. (stjude.org)
- Hemoglobin A1c is a specific fraction of hemoglobin A found in healthy individuals as well as individuals with diabetes mellitus. (medscape.com)