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There are two categories of hemoglobinopathy. In the first category, abnormal globin chains give rise to abnormal hemoglobin molecules. In the second category, normal hemoglobin chains are produced but in abnormal amounts.
Wiki User
∙ 13y ago
Wiki User
∙ 13y agoHemoglobinopathies are genetic (inherited) disorders of hemoglobin, the oxygen-carrying protein of the red blood cells.
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What types of hemoglobinopathies are there?
In general, hemoglobinopathies are divided into those in which the gene abnormality results in a qualitative change in the hemoglobin molecule and those in which the change is quantitative.
What is the prognosis for hemoglobinopathies?
Hemoglobinopathies are life-long disorders. The prognosis depends upon the exact nature of the mutation, the availability of effective treatment, as well as the individual's compliance
How can hemoglobinopathies be prevented?
primary prevention involves carriers making reproductive decisions to prevent passage of the abnormal gene to their offspring
What has the author George R Honig written?
George R. Honig has written: 'Human hemoglobin genetics' -- subject(s): Familial & genetic, Genetic aspects, Genetic aspects of Hemoglobinopathy, Genetics, Hemoglobin, Hemoglobinopathies, Hemoglobinopathy, Hemoglobins, Human genetics
What has the author Farba Balle Khodia Faye written?
Farba Balle Khodia Faye has written: 'Malaria resistance or susceptibility in red cells disorders' -- subject(s): Disease susceptibility, Hemoglobin polymorphisms, Hemoglobinopathies, Hemoglobinopathy, Hemoglobins, Immunity, Innate, Immunology, Innate Immunity, Malaria, Plasmodium, Plasmodium falciparum
What does Target cell mean?
Presence of target cells may be due to: Breakdown of red blood cells (decreased osmotic fragility) Deficiency of an enzyme called lecithin cholesterol acyl transferase. Abnormalities of hemoglobin, the protein in red blood cells that carry oxygen (hemoglobinopathies).
What is importance of Haemoglobin H?
Thalassemia (British spelling, "thalassaemia") is an inherited autosomal recessive blood disease. In thalassemia, the genetic defect results in reduced rate of synthesis of one of the globin chains that make up hemoglobin. Reduced synthesis of one of the globin chains causes the formation of abnormal hemoglobin molecules, and this in turn causes the anemia which is the characteristic presenting symptom of the thalassemias.Thalassemia is a class of hemoglobinopathies, like sickle-cell disease. Thalassemias result in under production of globin proteins, often through mutations in regulatory genes. Hemoglobinopathies imply structural abnormalities in the globin proteins themselves [1]. The two conditions may overlap, however, since some conditions which cause abnormalities in globin proteins (hemoglobinopathy) also affect their production (thalassemia). Either or both of these conditions may cause anemia.The disease is particularly prevalent among Mediterranean peoples, and this geographical association was responsible for its naming: Thalassa (θάλασσα) is Greek for the sea, Haema (αίμα) is Greek for blood.There is no cure for thalassemias, and the best treatment available today consists of frequent blood transfusions (every two to three weeks) with iron chelation therapy (e.g. deferoxamine) administered subcutaneously. Bone marrow transplants (hematopoietic stem cell transplantations) and cord blood transplantation with pre-operative myeloablation are potentially curative, though the latter requires further investigation.
PATHOPHYSiology of iron deficiency anemia?
Iron deficiency develops in several stages. In the first stage, body iron requirement exceeds iron intake, causing progressive depletion of bone marrow iron stores. As iron reservoirs decrease, compensatory increases in absorption of dietary iron occur. During later stages, deficiency is severe enough to impair red blood cell biosynthesis, leading to anemia. Iron deficiency, if severe and prolonged, may cause dysfunction of iron-containing cellular enzymes, which may contribute to fatigue and loss of stamina via mechanisms independent of the anemia itself. Iron deficiency anemia must be differentiated from other types of microcytic anemia, such as anemia caused by deficient erythropoiesis or decreased red blood cell production due to other underlying causes. If tests exclude iron deficiency in a patient with microcytic anemia, then anemia of chronic disease, structural hemoglobin abnormalities (e.g., hemoglobinopathies), and congenital red blood cell membrane abnormalities are considered. Clinical laboratory studies of hemoglobin electrophoresis and HbA 2, as well as genetic testing (e.g., alpha-thalassemia), may help distinguish these entities.
Hemoglobinopathy?
DefinitionHemoglobinopathy is a group of disorders passed down through families (inherited) in which there is abnormal production or structure of the hemoglobin molecule.Such disorders include hemoglobin C disease, hemoglobin S-C disease, sickle cell anemia, and various types of thalassemia.ReferencesGolan DE. Hemolytic anemias: red cell membrane and metabolic defects. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 165.
What is the definition of acute cholocystolithiasis?
Cholelithiasis refers to the formation of rock-like crystalline deposits (gallstones or biliary calculi) in the gallbladder. Development is insidious and may remain asymptomatic for years. The major component of most (approximately 85%) gallstones is cholesterol (cholesterol-predominant or "mixed" gallstones also containing calcium salts). These occur either as a solitary stone or multiple stones of varying sizes. Others stones (approximately 15%) are composed solely of calcium salts (calcium carbonate, calcium bilirubinate) or crystallized bile pigments (bilirubin). Pigment stones are more common in Asian than in Western populations. The gallbladder stores bile, a fluid that is produced in the liver to aid in the digestion of fats. Normal bile is sterile and contains a high level of cholesterol, which usually remains in liquid form. When the bile contains too much cholesterol and/or levels of cholesterol and lecithin are imbalanced, the bile becomes supersaturated. When this occurs, solid crystals of cholesterol and calcium salts form and settle out of the liquid bile creating sludge or gallstones. Other causes of cholelithiasis include production of bile that contains inadequate amounts of certain chemicals (phospholipids or bile acids) or blockage of the ducts carrying bile from the gallbladder to the intestine (biliary stasis). Obstruction can also lead to colonization of bile with bacteria, resulting in infection. Individuals with high heme turn over (e.g., cirrhosis, hemoglobinopathies including sickle cell disease, thalassemia, spherocytosis) are predisposed to bilirubin stones. United Nations Farms
Methemoglobinemia - acquired?
DefinitionMethemoglobinemia is a blood disorder in which the body cannot reuse hemoglobinafter it is damaged. Hemoglobin is the oxygen-carrying molecule found in red blood cells. In some cases of methemoglobinemia, the hemoglobin is unable to effectively carry oxygen to body tissues.Acquired methemoglobinemia results from exposure to certain drugs, chemicals, or foods.The condition may also be passed down through families (inherited). See: MethemoglobinemiaReferencesSteinberg MH. Sickle cell disease and associated hemoglobinopathies. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 167.
Hemoglobin C disease?
DefinitionHemoglobin C disease is a blood disorder passed down through families. It leads to a type of anemia, which occurs when red blood cells break down earlier than normal.Alternative NamesClinical hemoglobin CCauses, incidence, and risk factorsHemoglobin C is an abnormal type of hemoglobin, the protein in red blood cells that carries oxygen. It is a type of hemoglobinopathy. The disease is caused by problem with a gene called beta globin.The disease most often occurs in African Americans. You are more likely to have hemoglobin C disease if someone in your family has had it.SymptomsMost people do not have symptoms. Occasionally, jaundice may occur. Some persons with this disease may develop gallstones that require treatment.Signs and testsPhysical examination may show an enlarged spleen.Tests that may be done include:Complete blood countHemoglobin electrophoresisPeripheral blood smearBlood hemoglobinTreatmentUsually no treatment is needed. Folic acid supplementation may help your body produce normal red blood cells and improve the symptoms of the anemia.Expectations (prognosis)People with hemoglobin C disease can expect to lead a normal life.ComplicationsComplications include anemia, gall bladder disease, and enlargement of the spleen.Calling your health care providerCall your health care provider if you have symptoms of hemoglobin C disease.PreventionGenetic counseling may be appropriate for high-risk couples who wish to have a baby.ReferencesSteinberg MH. Sickle cell disease and associated hemoglobinopathies. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 167.
