Hemoglobin C Disease
Hemoglobin C
Hemoglobinopathies
Hemoglobin SC Disease
Anemia, Sickle Cell
Hemoglobins
Hemoglobin A
Hemoglobin, Sickle
Niemann-Pick Disease, Type C
Niemann-Pick Diseases
Ethnology
Fetal Hemoglobin
Hemoglobins, Abnormal
Thalassemia
Encyclopedias as Topic
"In vivo" and "in vitro" demonstration of hemoglobin C crystals in non-splenectomized patients. (1/48)
We studied 12 Hb C carriers: 4 homozygotic Hb CC and 8 heterozygotic. We observed the presence of free crystals in the peripheral blood of the homozygotes but in none of the heterozygotes. However, after incubation with 3% NaCl we were able to detect crystals in the heterozygotes (Hb AC and Hb SC), and in the homozygotes (Hb CC). In patient 04 (P04) less crystals formation occurred due to inhibition of the process by the presence of elevated levels of Hb F (12.2%). All the homozygotic patients had a splenomegaly of 3 to 6 fingerbreadths. We believe that the spleen wears off with time, thus allowing the passage of crystals to the peripheral blood. This finding might be associated with splenic insufficiency without a reduction of its dimensions. Finally, the finding of crystals in the peripheral blood permitted the diagnosis of Hb C obviating the need for electrophoresis. (+info)Hemoglobin C associated with protection from severe malaria in the Dogon of Mali, a West African population with a low prevalence of hemoglobin S. (2/48)
The malaria hypothesis proposes a survival advantage for individuals with hemoglobin variants in areas of endemic Plasmodium falciparum malaria. Hemoglobin C (HbC) is a possible example in West Africa, where this hemoglobin has a centric distribution with high frequencies among certain populations including the Dogon ethnic group. To test whether HbC is associated with protection from malaria, we performed a case-control study in the Dogon of Bandiagara, Mali. HbC was present in 68 of 391 (17.4%) of uncomplicated malaria control cases, whereas it was detected in only 3 of 67 cases (4.5%) of severe malaria (odds ratio [OR], 0.22; P =. 01). Further, HbC was present in only 1 of 34 cases (2.9%) with cerebral manifestations, the most common presentation of severe malaria in this population (OR, 0.14; P =.03). Episodes of uncomplicated malaria and parasitemias (4800-205 050/microL) were identified in cases of homozygous HbC (HbCC), which indicates that P falciparum parasites are able to efficiently replicate within HbCC erythrocytes in vivo. These findings suggest that HbC does not protect against infection or uncomplicated malaria but can protect against severe malaria in the Dogon population of Bandiagara, Mali. The data also suggest that the protective effect associated with HbC may be greater than that of HbS in this population. (+info)Red cell life span in sickle cell-hemoglobin C disease with a note about sickle cell-hemoglobin O ARAB. (3/48)
Red cell survival was measured in ten subjects with S-C disease and one with S-O Arab (alpha 2 beta 2-121 glu yields lys) disease using both DF32p and 51Cr as tags. Red cell volume was slightly reduced in most patients (87% plus or minus 20% of predicted normal). In nine SC patients, mean red cell life (DF32p) was 28.9 plus or minus 4.0 days. For one SC subject it was significantly longer (47.9 days), as it was for the one with S-O Arab. The S-O Arab subject had irreversibly sickled cells in the peripheral blood, shereas those with SC had few (less than 1/1000 red cells) or none. The S-O Arab hemolysate gelled at a hemmoglobin concentration (16.2 g/100ml) near that for sickle cell anemia hemolysates (15.9 plus or minus 1.0 g/100 ml; n equals 8) but significantly lower than that for SC hemolysates (21.6 plus or minus 1.9 g/100 ml; n equals 5). It seems likely that properties of S-C red cells other than their relative ease of sickling contribute significantly to their rate of hemolysis. (+info)Multiple major retinal vascular occlusions in sickle cell haemoglobin C disease. (4/48)
A case of multiple occlusions of different sized arterioles involving the central area of the fundus has been reported in a patient suffering from sickle cell haemoglobin C disease (SC). (+info)Aberrant development of Plasmodium falciparum in hemoglobin CC red cells: implications for the malaria protective effect of the homozygous state. (5/48)
Although selection of hemoglobin C (HbC) by malaria has been speculated for decades, only recently have epidemiologic studies provided support for HbC protection against malaria in West Africa. A reduced risk of malaria associated with the homozygous CC state has been attributed to the inability of CC cells to support parasite multiplication in vitro. However, there have been conflicting data and conclusions regarding the ability of CC red cells to support parasite replication. Reports that parasites cannot multiply in CC cells in vitro contrast with detection of substantial parasite densities in CC patients with malaria. We have therefore investigated Plasmodium falciparum growth in CC cells in vitro. Our data show that the multiplication rate of several P falciparum lines is measurable in CC cells, but lower than that in AA (HbA-normal) cells. A high proportion of ring forms and trophozoites disintegrates within a subset of CC cells, an observation that accounts for the overall lower replication rate. In addition, knobs present on the surface of infected CC cells are fewer in number and morphologically aberrant when compared with those on AA cells. Events in malaria pathogenesis that involve remodeling of the erythrocyte surface and the display of parasite antigens may be affected by these knob abnormalities. Our data suggest that only a subset of CC cells supports normal parasite replication and that components of malaria protection associated with the CC state may affect the parasite's replication capacity and involve aberrant knob formation on CC cells. (+info)Association between haemoglobin variants S and C and Mycobacterium ulcerans disease (Buruli ulcer): a case-control study in Benin. (6/48)
Risk factors for Buruli ulcer (BU) are poorly understood. We conducted a case-control study in southern Benin to investigate the association between haemoglobin variants S or C and BU, and particularly the association between haemoglobinopathies HbSS/SC and BU osteomyelitis. We compared the haemoglobin genotype of 179 patients with BU and 44 with BU osteomyelitis to that of 242 community controls. We found no evidence of an increased risk of BU according to the presence of haemoglobin variants S and/or C [odds ratio adjusted for sex, age, region of residence and ethnicity: 1.24 (95% CI: 0.80-1.93), P = 0.34]. Haemoglobin variants S and C are unlikely to play a role in the BU burden. However, haemoglobinopathies HbSS/SC were more frequent among BU osteomyelitis patients than among controls (6.8% vs. 1.0%, Fisher's exact P-value = 0.045), which may suggest that those disorders facilitate growth of Mycobacterium ulcerans in the bone matrix. (+info)Heme degradation and oxidative stress in murine models for hemoglobinopathies: thalassemia, sickle cell disease and hemoglobin C disease. (7/48)
(+info)Effects of hemoglobin C and S traits on the results of 14 commercial glycated hemoglobin assays. (8/48)
(+info)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.
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.
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.
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.
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.
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.
Niemann-Pick Disease, Type C (NPC) is a rare, progressive, and fatal neurovisceral lipid storage disorder caused by mutations in the NPC1 or NPC2 genes. These genetic defects result in impaired intracellular transport of cholesterol and other lipids, leading to excessive accumulation within lysosomes of various tissues, particularly in the brain, liver, spleen, and lungs.
The disease primarily affects children, although late-onset forms have been reported in adults. The symptoms and severity can vary widely among patients but often include neurological manifestations such as ataxia, dysarthria, dysphagia, cognitive decline, seizures, and vertical supranuclear gaze palsy (VSGP). Other features may involve visceral involvement like hepatosplenomegaly, jaundice, or pulmonary complications.
There is currently no cure for NPC, but treatments aim to manage symptoms, slow disease progression, and improve quality of life. Miglustat and cyclodextrin (HPβCD) are two FDA-approved therapeutic options that have shown some promise in stabilizing or delaying neurological decline in NPC patients. Early diagnosis and intervention are crucial for optimizing outcomes and providing appropriate supportive care.
Niemann-Pick diseases are a group of inherited metabolic disorders characterized by the accumulation of lipids, particularly sphingomyelin and cholesterol, within cells due to deficiencies in certain enzymes. These diseases are caused by mutations in the SMPD1, NPC1, or NPC2 genes, among others. There are four main types of Niemann-Pick disease (Types A, B, C, and D), each with varying severity and symptoms.
Type A and Type B diseases, also known as Acid Sphingomyelinase Deficiency or ASMD, result from mutations in the SMPD1 gene leading to a deficiency of acid sphingomyelinase enzyme. This causes excessive accumulation of sphingomyelin in various tissues, particularly in the liver, spleen, lungs, and brain.
Type A is the most severe form, typically presenting in infancy with symptoms such as developmental delay, feeding difficulties, enlarged liver and spleen, lung infection, and progressive neurological degeneration, which often leads to early death, usually before age 3.
Type B has a broader range of severity and onset, from infancy to adulthood. Symptoms may include enlarged liver and spleen, lung disease, poor growth, and varying degrees of neurological impairment. Type B patients can survive into adolescence or adulthood, depending on the severity of their symptoms.
Type C and Type D diseases, also known as Niemann-Pick Type C Disease (NPC), are caused by mutations in either the NPC1 or NPC2 genes, leading to defective intracellular lipid transport. This results in excessive accumulation of cholesterol and other lipids within cells, particularly in the brain, liver, spleen, and lungs.
Type C typically presents in childhood but can also manifest in adolescence or adulthood. Symptoms include progressive neurological degeneration, ataxia, seizures, dementia, problems with speech and swallowing, and yellowish skin (jaundice) at birth or during infancy due to liver involvement. Type C patients usually have a shorter life expectancy, often surviving into their teens, twenties, or thirties.
Type D is a subtype of NPC that affects people of Nova Scotian descent and has similar symptoms to Type C but with an earlier onset and faster progression.
Ethnology is a branch of anthropology that focuses on the systematic study of the cultural, biological, social, and linguistic diversity of human groups both past and present. It involves the comparison and analysis of different ethnic groups, their customs, beliefs, and practices, with the aim of understanding the underlying patterns and processes that shape human culture and society.
In a medical context, ethnology can be used to study the cultural factors that influence health outcomes and healthcare practices among different populations. This may include examining traditional healing systems, attitudes towards illness and disease, and the social determinants of health in different ethnic groups. The insights gained from such research can help inform the development of culturally sensitive healthcare policies and interventions that are tailored to the needs of diverse communities.
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.
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.
Blood protein electrophoresis (BPE) is a laboratory test that separates and measures the different proteins in the blood, such as albumin, alpha-1 globulins, alpha-2 globulins, beta globulins, and gamma globulins. This test is often used to help diagnose or monitor conditions related to abnormal protein levels, such as multiple myeloma, macroglobulinemia, and other plasma cell disorders.
In this test, a sample of the patient's blood is placed on a special gel and an electric current is applied. The proteins in the blood migrate through the gel based on their electrical charge and size, creating bands that can be visualized and measured. By comparing the band patterns to reference ranges, doctors can identify any abnormal protein levels or ratios, which may indicate underlying medical conditions.
It's important to note that while BPE is a useful diagnostic tool, it should be interpreted in conjunction with other clinical findings and laboratory tests for accurate diagnosis and management of the patient's condition.
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).
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.
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.
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Hemoglobin M disease
Hemoglobin H disease
Hemoglobin A
Hemoglobin Hopkins-2
Hemoglobin E
Hemoglobin, alpha 2
Hemoglobin C
Hemoglobin
Hemoglobin O
Hemoglobin subunit beta
Hemoglobin Constant Spring
Hemoglobin Barts
Hemoglobin variants
Coronary artery disease
Beta thalassemia
Point mutation
Virginia Minnich
Alpha-thalassemia
Hereditary persistence of fetal hemoglobin
Transient myeloproliferative disease
Mean corpuscular hemoglobin concentration
Jyoti Bhusan Chatterjea
Genetically modified animal
Hydroxymethylfurfural
Delta-beta thalassemia
Hemoglobin A2
Normocytic anemia
Sickle cell-beta thalassemia
Voxelotor
Evolutionary approaches to schizophrenia
Hemoglobin M disease - Wikipedia
Hemoglobin C disease: MedlinePlus Medical Encyclopedia
Hemoglobin C Disease: Overview, Clinical Presentation, Laboratory Studies
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Targeting the hemoglobin problem in sickle cell disease using a new drug
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Electrophoresis8
- Biochemical testing, hemoglobin electrophoresis, ultraviolet-visible wavelength light spectroscopy, and DNA-based globin gene analysis can be used for diagnosis. (wikipedia.org)
- Hemoglobin electrophoresis measures the levels of the different types of this protein in t. (stlukes-stl.com)
- This was a descriptive retrospective study of hemoglobin variants performed by electrophoresis in patients treated at and/or referred to specialized care institutions in Bogota, Colombia between January 2009 and December 2020. (scielo.br)
- Diagnosis of hemoglobin E disease is by hemoglobin electrophoresis. (msdmanuals.com)
- A blood test called a hemoglobin electrophoresis can also determine which type you might carry. (healthline.com)
- Hemoglobin electrophoresis is used to diagnose hemoglobin C disease and other hemoglobinopathies. (mhmedical.com)
- Most affected patients are detected during newborn screening programs for hemoglobinopathies, which include assessments of the size and volume of red blood cells (reduced in hemoglobin E disease), and hemoglobin electrophoresis. (mhmedical.com)
- Complete blood count and haemoglobin electrophoresis, G6PD activity and serum ferritin were determined. (who.int)
Hemoglobinopathies14
- Howard J. Sickle cell disease and other hemoglobinopathies. (medlineplus.gov)
- Hemoglobin and hemoglobinopathies. (medlineplus.gov)
- 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)
- hemoglobinopathies (e.g., sickle cell disease) and thalassemias are some of the most common human genetic diseases worldwide. (cshlpress.com)
- Sickle cell disease and associated hemoglobinopathies. (stlukes-stl.com)
- Hemoglobinopathies are the most common recessive diseases found worldwide and represent an important public health problem, according to the region and ancestry of each country. (scielo.br)
- Both qualitative and quantitative alterations are known as "hemoglobinopathies", which are the most common recessive diseases found worldwide and represent a major public health problem. (scielo.br)
- 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)
- 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)
- other less widespread hemoglobinopathies are hemoglobin C (HbC), which is particularly common in West Africa and hemoglobin D (HbD), more prevalent in Southeast Asia, the Middle East and India. (scielo.br)
- Overview of Hemoglobinopathies Hemoglobinopathies are genetic disorders affecting the structure or production of the hemoglobin molecule. (msdmanuals.com)
- The prevalence and molecular basis of hemoglobinopathies in Cambodia.Hemoglobin. (who.int)
- Because of the potential for complications from the disease, patients with hemoglobinopathies should have periodic check-ups, includinga retinal examination, assessment of symptoms of anemia (such as breathlessness on exertion, fatigue), and blood testing. (mhmedical.com)
- Causes of the second category include blood loss (hemorrhage), hemolysis of various etiologies (both intrinsic and extrinsic), and hemoglobin disorders (hemoglobinopathies and thalassemias). (medscape.com)
Abnormal hemoglobin8
- occurs when an abnormal hemoglobin S gene is inherited from both parents. (ms.gov)
- occurs when an abnormal hemoglobin S gene is inherited from one parent and a hemoglobin C gene is inherited from the other parent. (ms.gov)
- occurs when an abnormal hemoglobin S gene and a beta thalassemia gene are inherited. (ms.gov)
- Disorders can be divided into two main groups: qualitative alterations, in which there are variants in the globin genes that can cause changes in the structure of the globin and lead to the production of abnormal hemoglobin (HbS, HbC and HbE, among others) and quantitative alterations, which result from a quantitative deficiency in one or more of the hemoglobin globin chains (thalassemias). (scielo.br)
- A new abnormal hemoglobin with instability and low oxygen affinity. (degruyter.com)
- The child has one HbS gene and another abnormal hemoglobin gene. (childrenshospital.org)
- Background Sickle cell disease (SCD) is a blood disorder caused by a point mutation on the beta globin gene resulting in the synthesis of abnormal hemoglobin. (uct.ac.za)
- Hemoglobinopathy is the study of abnormal hemoglobin. (medicalnewstoday.com)
Fetal hemoglobin13
- 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)
- What role does BPG play in transfer of oxygen from the maternal hemoglobin (HbA) to the fetal hemoglobin (HbF)? (flashcardmachine.com)
- The gamma chain of fetal hemoglobin binds BPG with a lower affinity relative to the adult hemoglobin. (flashcardmachine.com)
- Fetal hemoglobin (HbF) reduces disease severity, but the levels vary from one individual to another. (uct.ac.za)
Thalassemia10
- 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)
- Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations. (degruyter.com)
- Hemoglobin S-Beta-Thalassemia Disease Hemoglobin S-beta-thalassemia disease is a hemoglobinopathy that causes symptoms similar to those of sickle cell disease, but less severe. (msdmanuals.com)
- 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)
- These abnormalities may indicate sickle cell disease, thalassemia , or other disorders. (medicalnewstoday.com)
- this leads to the clinical disease known as alpha thalassemia. (medscape.com)
- 1, 2] Similarly, impaired production of beta globin gene products manifests with a more severe disease known as beta thalassemia. (medscape.com)
- The resulting disorder is referred to as hydrops fetalis, alpha thalassemia major, or hemoglobin Bart's. (medscape.com)
Gene14
- The disease is caused by a problem with a gene called beta globin. (medlineplus.gov)
- This book includes discussions of management and treatment strategies for hemoglobin disorders, such as transfusions, iron-chelating agents, gene therapy, and stem cell transplantation. (cshlpress.com)
- There are over 300 alleles (one of two or more forms of a gene that produce variations in a given trait) for the hemoglobin gene, part of the globin gene superfamily. (icr.org)
- You need two copies of the gene to have the disease. (healthline.com)
- It occurs when you inherit copies of the hemoglobin S gene from both parents. (healthline.com)
- People who only inherit a mutated gene (hemoglobin S) from one parent are said to have sickle cell trait. (healthline.com)
- People with sickle cell trait have one copy of the HbS gene and one copy of the normal hemoglobin A gene ( HbA ). (childrenshospital.org)
- The type of sickle cell disease depends on the specific gene variant that your child has inherited. (childrenshospital.org)
- The child has one HbS gene and one defective hemoglobin C gene (HbC). (childrenshospital.org)
- Most hemoglobin C patients have normal longevity unless they carry one gene for hemoglobin C and another for hemoglobin S (sickle cell disease). (mhmedical.com)
- SCD is the most prevalent genetic disease in the African Region.1 There are different subtypes of SCD in which the abnormal S gene (S) coexists with other abnormal haemoglobin genes. (who.int)
- At present, about 5% of the world's population are carriers of a potentially pathological haemoglobin gene (i.e. healthy people who have inherited only one mutant gene from one parent). (who.int)
- Although a single abnormal gene may protect against malaria, inheritance of two abnormal genes leads to the haemoglobin disease state and confers no such protection. (who.int)
- Pharmaceutical induction of haemoglobin F synthesis and gene therapy hold great promise for treating haemoglobin disorders, although more research is needed, particularly on gene therapy. (who.int)
Children with sickle cell di4
- 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 Global Health Initiative at Dana-Farber/Boston Children 's Cancer and Blood Disorders Center is working to improve survival for children with sickle cell disease around the world, including programs to establish newborn screening for sickle cell disease and developing research partnerships in Liberia and Haiti. (childrenshospital.org)
- All children with sickle cell disease have inherited sickle cell trait (HbAS) from at least one parent. (childrenshospital.org)
- Decreased Hepcidin Levels Are Associated with Low Steady-state Hemoglobin in Children With Sickle Cell Disease in Tanzania. (ox.ac.uk)
Disorders11
- The pathophysiological consequences of hemoglobin disorders (e.g., ineffective erythropoiesis and aberrant iron homeostasis), their clinical manifestations, and epidemiological trends are also described. (cshlpress.com)
- 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)
- Most disorders affecting hemoglobin are hereditary and it is estimated that approximately 7% of the world's population is constituted by carriers of different inherited hemoglobin disorders, making them the most common recessive hereditary diseases. (scielo.br)
- 4 4 Cataldo F. Immigration and changes in the epidemiology of hemoglobin disorders in Italy: an emerging public health burden. (scielo.br)
- Inherited haemoglobin disorders: an increasing global health problem. (who.int)
- Oxidative stress has been implicated in a wide range of diseases including atherosclerosis, hypertension, diabetes, ischemia reperfusion injury and a range of neurodegenerative disorders (Flora, 2007). (scialert.net)
- Respiratory diseases are common health disorders in veal calves, which have a severe impact on both animal welfare and the income of producers, because they are the most important causes of morbidity and mortality ( 13 , 14 ). (frontiersin.org)
- Various disorders and diseases primarily affect the blood and may be studied and treated by a hematologist. (medicalnewstoday.com)
- Increasing global migration, however, has introduced haemoglobin disorders into many areas where they were not originally endemic (see Figure). (who.int)
- In the United States of America, 10% of the population is at risk of sickle-cell anaemia, and in north-western Europe between 2% and 9% belong to the ethnic minorities at risk of haemoglobin disorders. (who.int)
- Because of the complications associated with chronic haemoglobin disorders and the consequent years of disability, haemoglobinopathies are becoming a growing health-care problem in all affected regions but in particular the developing world. (who.int)
Variants4
- Hemoglobin M diseases caused by different HbM variants may have slight variations in their signs and symptoms, some include signs such as hemolytic anemia, decreased HbA1c, and abnormal co-oximetry. (wikipedia.org)
- Contributors examine the structure, expression, and evolution of the globin genes, the assembly of globin subunits into functional forms of hemoglobin, and the numerous variants that result from genetic alterations. (cshlpress.com)
- To evaluate the frequency of hemoglobin variants according to the geographical region in a population group adjusted to sex and age in Colombia. (scielo.br)
- Automated detection of unstable hemoglobin variants by Sysmex XE-Series analyzers. (degruyter.com)
Form of hemoglobin2
- HbM is an altered form of hemoglobin (Hb) due to point mutation occurring in globin-encoding genes, mostly involving tyrosine substitution for proximal (F8) or distal (E7) histidine residues. (wikipedia.org)
- yet this form of hemoglobin is unstable and tends to precipitate within the cell, forming insoluble inclusions (Heinz bodies) that damage the red cell membrane. (medscape.com)
Human hemoglobin2
- Representation of a human hemoglobin protein molecule. (icr.org)
- They are characterized by reduced or absent production of 1 or more of the globin chains of which human hemoglobin is composed. (medscape.com)
Genetic11
- The abundance, stability, and oxygen-carrying properties of hemoglobin can be altered by genetic mutations. (cshlpress.com)
- It is an indispensable reference for biochemists, geneticists, cell and developmental biologists, physiologists, and all who are interested in reducing the medical burden of these common genetic diseases. (cshlpress.com)
- Unstable hemoglobins: influence of environment on phenotypic expression of a genetic disorder. (degruyter.com)
- Sickle cell anemia, or sickle cell disease (SCD), is a genetic disease of the red blood cells (RBCs). (healthline.com)
- As the number of inherited metabolic diseases that are included in state-based newborn screening programs continues to increase, ensuring the quality of performance and delivery of testing services remains a continuous challenge not only for public health laboratories and other newborn screening facilities but also for biochemical genetic testing laboratories. (cdc.gov)
- The severity of the symptoms of sickle cell disease can vary greatly depending on the specific genetic type and even within those of the same type. (childrenshospital.org)
- It is caused by a genetic abnormality in the hemoglobin molecule inherited in autosomal recessive fashion. (mhmedical.com)
- hē′mŏ-glō″bĭn) A mild form of hemolytic anemia caused by a genetic variant of the hemoglobin molecule. (mhmedical.com)
- It is an autosomal recessively inherited genetic disease affecting the structure of the beta globin molecule. (mhmedical.com)
- It is the most prevalent genetic disease in the WHO African Region. (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)
Severity9
- There are several different types of sickle cell disease that differ in symptoms and severity. (childrenshospital.org)
- Children may experience a broad range of sickle cell symptoms and disease severity. (childrenshospital.org)
- This study aimed to investigate whether serum indicators related to iron stores in the body are associated with clinical and endoscopic disease severity. (nature.com)
- Therefore, we hypothesized that the indicators related to serum iron parameters may be candidates for evaluating disease severity. (nature.com)
- Thus, the aims of the current study are (1) to compare the differences in serum indicators related to iron stores in the body between CD patients and controls and (2) to investigate whether these indicators are associated with disease severity. (nature.com)
- Therefore, the main aim of this study was to assess the predictive yield of urinary isomorphic red blood cells for disease severity and renal outcomes in patients with ANCA-MPO associated vasculitis. (springer.com)
- 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)
- BACKGROUND: The contribution of hepcidin as a regulator of iron metabolism & erythropoiesis on the severity of anemia in sickle cell disease (SCD) remains poorly characterized, especially in Sub-Saharan African populations. (ox.ac.uk)
Genes3
- In a study on vertebrate globins, Jay Storz and his colleagues wrote, "The retention of the proto- Hb and Mb genes in the ancestor of jawed vertebrates permitted a physiological division of labor between the oxygen-carrier function of Hb [hemoglobin] and the oxygen-storage function of Mb [myoglobin]. (icr.org)
- Some haemoglobinopathy genes ( alpha-thal, beta-thal and HbS ) cause alpha-thalassaemia, beta-thalassaemia and sickle-cell anaemia, respectively, but others ( HbE and HbC ) cause severe clinical manifestations of the disease only when combined with one of the former genes. (who.int)
- Alpha-chain genes in duplication on chromosome 16 pairing with non-alpha chains to produce various normal hemoglobins. (medscape.com)
Types of sickle cell di2
- 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)
Synthesis1
- Thalassemias Thalassemias are a group of inherited microcytic, hemolytic anemias characterized by defective hemoglobin synthesis. (msdmanuals.com)
Trait8
- 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)
- 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)
- Children are only at risk for sickle cell disease if both parents carry sickle cell trait. (healthline.com)
- Sickle cell trait is not a form of sickle cell disease, although in rare circumstances, sickle cell trait can become symptomatic. (childrenshospital.org)
- Sickle-cell disease prevalence depends on sickle-cell trait. (who.int)
Structure of the hemoglobin1
- hē′mŏ-glō′bĭn) A mild, chronic hemolytic anemia, similar to sickle cell disease, that results from an abnormality in the amino acid structure of the hemoglobin molecule. (mhmedical.com)
Hematocrit1
- Hemoglobin and hematocrit are unrelated to exposure. (cdc.gov)
Chronic14
- Trials of anemia correction in chronic kidney disease have found either no benefit or detrimental outcomes of higher targets. (nih.gov)
- We did a secondary analysis of patients with chronic kidney disease enrolled in the Correction of Hemoglobin in the Outcomes in Renal Insufficiency trial to measure the potential for competing benefit and harm from achieved hemoglobin and epoetin dose trials. (nih.gov)
- found that serum hepcidin was positively correlated with IL-6 and negatively correlated with hemoglobin in anemia of chronic disease (ACD) 11 .This suggested that iron stored in these inflammatory cells is an important source of hematopoiesis in CD patients with ACD. (nature.com)
- Low levels of red blood cells in people with a long-term illness ( anemia of chronic disease). (webmd.com)
- Taking iron by mouth or by IV along with other medications such as epoetin alfa can help build red blood cells and prevent or treat anemia in people with certain chronic diseases. (webmd.com)
- However, because these individuals have a risk of cardiovascular disease and chronic kidney disease similar to that of the diabetes-free population , replacement of OGTT with HbA1c-based diagnosis appears justified. (bvsalud.org)
- Intermittent vaso-occlusive crises may be superimposed, or chronic low-level pain may be the only expression of the disease. (medscape.com)
- What Is Hypertension-Induced Chronic Kidney Disease? (medicinenet.com)
- Hypertension -induced chronic kidney disease (CKD) is a long-standing kidney condition that develops over time due to persistent or uncontrolled high blood pressure ( hypertension ). (medicinenet.com)
- What are the signs and symptoms of hypertension-induced chronic kidney disease? (medicinenet.com)
- Early chronic kidney disease (CKD) also may not have symptoms. (medicinenet.com)
- How do doctors diagnose hypertension-induced chronic kidney disease? (medicinenet.com)
- Anyone who has high blood pressure is more likely to develop chronic kidney disease (CKD) in the absence of treatment. (medicinenet.com)
- There is no cure for hypertension-induced chronic kidney disease (CKD). (medicinenet.com)
Humans1
- While the full physiological significance of the developmental diversity of hemoglobins is not yet understood, it is clear that the multiplicity of hemoglobins produced in a developmentally controlled manner is a strongly conserved feature across vertebrates, including the jawless vertebrates (agnathans), which are the most distantly related extant vertebrate relatives to humans. (icr.org)
Serum3
- Serum free hemoglobin is a blood test that measures the level of free hemoglobin in the liquid part of the blood (the serum). (stlukes-stl.com)
- Underweight, decreased serum iron and TIBC were independent risk factors for moderate clinical disease. (nature.com)
- In an elderly population with cognitive impairment, we investigated the association between serum uric acid (sUA) and serum homocysteine (sHcy), known risk factors for cerebrovascular disease. (mdpi.com)
Myoglobin4
- Who would consider seriously a phylogeny of vertebrates drawn from a comparison of myoglobin [a single polypeptide chain molecule found in the muscles of vertebrates] of some species and hemoglobin from others? (icr.org)
- The species for which myoglobin is used will cluster together far away from the related species for which hemoglobin is selected. (icr.org)
- How many sub-units does myoglobin and hemoglobin have, respectively? (flashcardmachine.com)
- Heme proteins like hemoglobin (Hb) and myoglobin (Mb) contain redox-active transition metal iron that makes them susceptible to causing oxidative damage. (scialert.net)
Symptoms7
- Contact your health care provider if you have symptoms of hemoglobin C disease. (medlineplus.gov)
- 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)
- A variety of symptoms and complications of sickle cell disease occur. (childrenshospital.org)
- What are the symptoms of sickle cell disease? (childrenshospital.org)
- Symptoms and complications of sickle disease may include the following. (childrenshospital.org)
- In this clinical setting, symptoms are very poor indicators of the presence of significant colorectal disease,7 even rectal bleeding.8 Amongst other reasons, encouragement from governments in the United Kingdom (UK) to the general public to seek care if they experience lower GI symptoms has led to large and ongoing rises in the number of referrals to secondary care for colorectal visualization, usually colonoscopy. (aacc.org)
- It is firmly believed that it is timely that FIT should become integral to the assessment of all patients presenting to primary care with new GI symptoms to objectively, efficiently, and effectively determine the risk of underlying significant colorectal disease (CRC, advanced adenoma, and inflammatory bowel disease ([IBD]) and to encourage direction of colorectal visualization to those patients who would benefit most. (aacc.org)
Presence of hemoglobin2
- Hemoglobin M disease is a rare form of hemoglobinopathy, characterized by the presence of hemoglobin M (HbM) and elevated methemoglobin (metHb) level in blood. (wikipedia.org)
- hē″mō-glō-bĭn-ē′mē-ă) [Gr. haima , blood, + L. globus , globe, + Gr. haima , blood] The presence of hemoglobin in the blood plasma. (mhmedical.com)
Forms of hemoglobin1
- Two minor forms of hemoglobin constitute a small percentage of normal blood: hemoglobin F (fetal), composed of 2 alpha chains and 2 gamma chains, and hemoglobin A2, composed of 2 alpha chains and 2 delta chains. (medscape.com)
Study of hemoglobin1
- Structural study of hemoglobin Hazebrouck, beta 38(C4)Thr→Pro. (degruyter.com)
Amount of hemoglobin2
- Because results are reported in nanomol adduct per gram of hemoglobin used in the measurement, the amount of hemoglobin used for this analysis needs to be determined. (cdc.gov)
- The absorbance of the solution at 540 nm reflects the amount of hemoglobin present. (medscape.com)
Disorder5
- Hemoglobin C disease is a blood disorder passed down through families. (medlineplus.gov)
- Sickle cell disease is an inherited blood disorder. (childrenshospital.org)
- The most common form of SCD found in North America is homozygous HbS disease (HbSS), an autosomal recessive disorder first described by Herrick in 1910. (medscape.com)
- Beta- thalassaemia is the most common haemoglobin disorder in the Mediterranean basin, the Middle East and Asia. (who.int)
- Individuals with this disorder cannot produce any functional alpha globin and thus are unable to make any functional hemoglobin A, F, or A2. (medscape.com)
Molecule2
- The hemoglobin molecule is designed with much variation to supply the oxygen needs of a wide variety of organisms. (icr.org)
- The oxygen carrying capability of the red blood cells (RBCs) relies on hemoglobin, a tetramer protein that comprises 4 globin chains bound to the heme molecule. (medscape.com)
20221
- Rare unstable and low oxygen affinity haemoglobin variant, Hb Hazebrouck, detected on Sysmex XN-9000" Clinical Chemistry and Laboratory Medicine (CCLM) , vol. 60, no. 5, 2022, pp. e116-e118. (degruyter.com)
Normal hemoglobin1
- 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)
Pathophysiology1
- The pathophysiology of hemoglobin M disease involves heme iron autoxidation promoted by heme pocket structural alteration. (wikipedia.org)
Adults3
- 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)
- Unlike adults who have alpha and beta chains in the hemoglobin, a foetus expresses a zeta chain instead of alpha and epsilon, then later gamma instead of the HbA beta chain. (flashcardmachine.com)
- The dominant hemoglobin in adults (hemoglobin A) is composed of 2 alpha and 2 beta chains. (medscape.com)
Carries oxygen4
- Hemoglobin C is an abnormal type of hemoglobin, the protein in red blood cells that carries oxygen. (medlineplus.gov)
- Hemoglobin is a protein that carries oxygen in the blood. (stlukes-stl.com)
- Haemoglobin is a protein that gives blood its red colour and carries oxygen around the body. (cochrane.org)
- A National Institutes of Health-funded study comparing low dose iron supplementation to no supplementation in blood donors found that supplementation significantly reduced the time to recovery of post-donation lost iron and hemoglobin-an iron-rich protein that carries oxygen in red blood cells throughout the body. (nih.gov)
Kidney Disease5
- No Racial Differences in the Association of Glycated Hemoglobin With Kidney Disease and Cardiovascular Outcomes. (diabetesjournals.org)
- Patients were followed up for a median of 25 months and progression to end-stage kidney disease and death were regarded as main outcome events. (springer.com)
- Additionally, univariate and multivariate Cox regression models were used to estimate the risk factors for end-stage kidney disease. (springer.com)
- The end-stage kidney disease-free survival was lower in patients in the isomorphic red blood cell group ( P = 0.024). (springer.com)
- However, urine isomorphic red blood cells ≥ 70% could not predict the presence of end-stage kidney disease in multivariate Cox analysis. (springer.com)
Patients15
- Kutlar notes that the higher dose has been used in other disease states and well tolerated by patients. (news-medical.net)
- Design and Methods A prospective multicenter study of 310 patients aged 3-20 years old with sickle cell disease under basal conditions and 54 matched controls was conducted. (haematologica.org)
- Echocardiographic estimation of pulmonary artery pressure by measuring the tricuspid valve regurgitant jet velocity has been validated as a useful screening method for pulmonary hypertension in adult patients with sickle cell disease. (haematologica.org)
- 1 - 3 Even though this definition includes mild elevations in pulmonary artery pressure, adult sickle cell disease patients with a regurgitant jet velocity of 2.5 m/sec or more have an increased risk of mortality. (haematologica.org)
- In the 4 month analysis, significantly more patients in the high-hemoglobin compared to the low-hemoglobin arm were unable to achieve target hemoglobin and required high-dose epoetin-alpha. (nih.gov)
- Prospective studies are needed to confirm this relationship and determine safe dosing algorithms for patients unable to achieve target hemoglobin. (nih.gov)
- However, patients with severe disease may benefit from periodic transfusions or splenectomy. (msdmanuals.com)
- There is no evidence that giving blood transfusions to patients with lower blood counts (haemoglobin levels of 7.0 g/dL to 8.0 g/dL) compared to higher blood counts (9.0 g/dL to 10.0 g/dL) affects risks of death, heart attack, myocardial infarction, stroke, pneumonia, blood clots or infection. (cochrane.org)
- Eighty-four patients with Crohn's disease (CD) and twenty-four healthy volunteers were included. (nature.com)
- Patients were divided into three groups according to the CDAI(Crohn's disease activity index)scores. (nature.com)
- Patients with Crohn's disease (CD) develop various extraintestinal complications. (nature.com)
- The study hypothesized that oxidative by-product like hydrogen peroxide (H 2 O 2 ), would reacts with hemoglobin (Hb) and help to initiate autoimmunity in patients with type 1 diabetes. (scialert.net)
- Blood smears in patients with hemoglobin C disease usually reveal an excess of target cells. (mhmedical.com)
- Le diagnostic de thalassémie a été posé chez six patients (19,4 %) et celui de déficit en glucose-6-phosphate déshydrogénase chez sept patients (22,6 %), parmi lesquels six patients étaient atteints d'une forme modérée et un patient d'une forme sévère. (who.int)
- Patients with thalassaemia need regular transfusions of red blood cells (once or twice monthly) in order to maintain a mean haemoglobin concentration of about 9.0-10.5 g/dl. (who.int)
Mutations1
- In some south-east Asian countries up to 40% of the population may carry significant haemoglobin mutations, resulting in increased rates of infants born with thalassaemia. (who.int)
Diagnosis2
- Diagnosis and management of rare congenital nonimmune hemolytic disease. (degruyter.com)
- We aimed to assess the proportion of OGTT -diagnosed diabetes cases that can be confirmed by HbA1c and to examine whether individuals with OGTT diagnosis but nondiagnostic HbA1c are at higher risk of macrovascular and microvascular disease . (bvsalud.org)
Concentration4
- 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)
- After adjustment for hemoglobin concentration, systolic blood pressure and left ventricular diastolic function, a 2 SD increase in the hemolytic index was associated with a 4.5-fold increase in the odds of elevated jet velocity ( p =0.009) and oxygen saturation ≤98% with a 3.2-fold increase ( p =0.028). (haematologica.org)
- Hemoglobin concentration (Hb) is used clinically to determine the presence of anemia , which is functionally defined as insufficient red blood cell (RBC) mass to adequately deliver oxygen to peripheral tissues. (medscape.com)
- Hemoglobin concentration (Hb) is usually reported as grams of hemoglobin per deciliter of blood (g/dL). (medscape.com)
Structural1
- Hemoglobin C (Hb C) is a common structural hemoglobin variant. (medscape.com)
Variant2
- Unstable haemoglobin variant Hb Leiden is detected on Sysmex XN-Series analysers. (degruyter.com)
- 5. Mongelli, F, Barberio, G, Ivaldi, G. A rare and unstable hemoglobin variant, Hb M Dothan β 25/26 (-GTG), detected by the anomalous cytogram on Sysmex XE-2100. (degruyter.com)
Molecular2
- The high molecular mass hemoglobin of the worm is the transporter for both oxygen and sulfide. (icr.org)
- Molecular and cellular changes of hemoglobin S. (medscape.com)
Bilirubin1
- The breakdown of hemoglobin forms bilirubin. (medicalnewstoday.com)
Sickle cell a2
Severe1
- This is the most common and most severe form of sickle cell disease. (childrenshospital.org)
Metabolism1
- Such challenges, including mixing procedures and transportation of calves to the veal farm, may have a negative influence on growth rate, feed intake, metabolism, immunity and disease susceptibility of calves. (frontiersin.org)
Levels7
- Cyanosis in hemoglobin M disease results from elevated levels of metHb and sulfhemoglobin (sulfHb). (wikipedia.org)
- Is it safe to use lower blood counts (haemoglobin levels) as a trigger for blood transfusion in order to give fewer blood transfusions? (cochrane.org)
- This study highlights the importance of maintaining iron levels after blood donation, and shows that supplemental iron effectively restores hemoglobin, even in donors with higher iron levels," explained the study's principal investigator, Joseph Kiss, M.D., medical director at the Institute for Transfusion Medicine and associate professor of medicine, University of Pittsburgh. (nih.gov)
- Hemoglobin and iron levels were measured seven times during the study. (nih.gov)
- Compared to donors who did not take iron, the donors taking iron supplements returned to pre-donation hemoglobin levels faster in both the lower iron (five weeks versus 23 weeks) and higher iron groups (four weeks versus 11 weeks). (nih.gov)
- Low hemoglobin levels are found in CKD. (medicinenet.com)
- Anemias are conditions that lead to low levels of hemoglobin or red blood cells in the body. (medicalnewstoday.com)
Complications of sickle cell di2
- The spleen may have to be removed due to complications of sickle cell disease in an operation known as a splenectomy. (healthline.com)
- All complications of sickle cell disease may occur but tend to be a milder degree. (childrenshospital.org)
Blood cells7
- Hemoglobin is an iron-containing protein in red blood cells that transports oxygen to tissues throughout the body. (cshlpress.com)
- 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)
- Hemoglobin is an iron-containing respiratory protein in red blood cells that binds oxygen and then transports and releases it to cells that need oxygen. (icr.org)
- Hemoglobin is an iron-containing oxygen-transport protein found in red blood cells. (icr.org)
- The liver or bone marrow stores iron released from hemoglobin, which makes the next generation of blood cells. (medicalnewstoday.com)
- The liver stores iron from hemoglobin in the form of ferritin, ready to make new red blood cells. (medicalnewstoday.com)
- Hemoglobin is the main component of red blood cells and serves as the transporter for oxygen and carbon dioxide in the blood. (medscape.com)
Adult1
- This means that the fetal hemoglobn has a higher affinity for oxygen than the adult hemoglobin and transfer of oxygen from the low affinity HbA to the higher affinity HbF is thus enabled. (flashcardmachine.com)
Hypertension3
- Nevertheless, an association between hemolysis and pulmonary hypertension in sickle cell disease has been questioned because, in most studies thus far, not all markers of hemolysis have had significant associations with estimated pulmonary artery pressure. (haematologica.org)
- Previous studies linking cadmium to human hypertension and cardiovascular disease is considered tenuous and unconvincing. (cdc.gov)
- However, older thalassaemics may have to contend with multiple conditions including early osteoporosis, cardiac disease, pulmonary hypertension and diabetes, some of which result from increased iron deposition in the endocrine glands and myocardial cells. (who.int)
Cardiovascular3
- We prospectively followed 921 diabetic women in the Nurses' Health Study, who were free of cardiovascular disease at the time that blood was drawn in 1989/90. (bgu.ac.il)
- After adjustment for nonmodifiable risk factors and compared with the 4997 diabetes-free participants, 371 participants with new HbA1c-confirmed diabetes and 405 participants with preexisting diabetes had increased risk of cardiovascular disease ( hazard ratio, 1.53 [95% CI, 1.12-2.10] and 1.85 [95% CI, 1.50-2.28], respectively). (bvsalud.org)
- The data are taken to argue against a strong causal association between cadmium exposure and these cardiovascular disease risk indices. (cdc.gov)
Centers4
- Centers for Disease Control and Prevention. (cdc.gov)
- The conclusions, findings, and opinions expressed by authors contributing to this journal do not necessarily reflect the official position of the U.S. Department of Health and Human Services, the Public Health Service, the Centers for Disease Control and Prevention, or the authors' affiliated institutions. (cdc.gov)
- The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)
- Washed-packed red blood cell specimens were processed, stored, and shipped to the Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA for analysis. (cdc.gov)
Methemoglobin1
- methemoglobin) and then converts it to hemoglobin cyanide (HiCN). (medscape.com)
Type of sickle cell di2
- 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)
RBCs1
- However, with this disease, the RBCs have an abnormal crescent shape resembling a sickle. (healthline.com)
Substances2
- The material in this report originated in the Laboratory Science, Policy, and Practice Program Office, May Chu, PhD, Director, and the National Center for Environmental Health/Agency for Toxic Substances and Disease Registry, Christopher J. Portier, PhD, Director. (cdc.gov)
- It is suggested that studying continuous physiologic parameters rather than categorical disease classifications or end stage morbidity or mortality is a more sensitive method of detecting early effects of cadmium or other toxic substances. (cdc.gov)