Any of a group of disorders caused by genetic abnormality of the hemoglobin molecule.The most prominent types are sickle-cell anemia and thalassemia, a set of disorders whose symptoms range from none to fatal anemia.
* * *also spelled haemoglobinopathyany of a group of disorders caused by the presence of variant hemoglobin in the red blood cells. Variant-hemoglobin disorders occur geographically throughout the Old World in a beltlike area roughly the same as that of malaria. The presence of variant hemoglobin in moderate amounts may constitute a selective advantage in that it provides some protection from the lethal effects of malaria, thereby allowing more persons to reach reproductive age. The most important of the hemoglobinopathies are sickle-cell anemia (sickle cell anemia) and thalassemia. Hemoglobin C (Hb C) is relatively common among African blacks living north of the Niger River and is found in 2–3 percent of blacks in the United States. Hemoglobin C disease (occurring when the variant Hb C gene is inherited from both parents) produces such symptoms and signs as vague pain, jaundice, enlarged spleen, mild to moderate anemia, and some hemorrhaging. The life span of the individual, however, is normal, and the disease is much milder than the sickle-cell anemia found in the same geographic range. It is possible that Hb C is gradually replacing Hb S (variant hemoglobin of sickle-cell anemia) by a process of selection in Africa; Hb C does not produce early mortality in homozygotes (persons with two genes for Hb C), as does sickle-cell anemia, yet Hb C may afford some protection from malaria.Hemoglobin D is found mainly in people of Afghan, Pakistani, and northwestern Indian descent, but it also occurs in those of European ancestry. Hemoglobin D disease (two genes for Hb D) may produce mild hemolytic anemia. Hemoglobin E is widespread in Southeast Asia, being found especially among Thai, Cambodian, Laotian, Malaysian, Indonesian, Vietnamese, and Burmese peoples. Hemoglobin E disease (two genes for Hb E) may result in a mild microcytic (small red blood cell) anemia. Hemoglobin E–thalassemia disease (one gene for Hb E, one gene for thalassemia) is severe and clinically closely resembles thalassemia major. Hemoglobin H, found in many groups in the Old World (e.g., Chinese, Thai, Malayans, Greeks, Italians), has almost always been identified in combination with thalassemia; symptoms resemble those of thalassemia.Many other variant hemoglobins—such as types G, J, K, L, N, O, P, Q, and variants of Hb A (“normal” hemoglobin) and Hb F (fetal hemoglobin)—are known but typically do not produce clinical manifestations.
* * *
Look at other dictionaries:
Hemoglobinopathy — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 19674 ICD10 = ICD10|D|58|2|d|55 ICD9 = ICD9|282.7 ICDO = OMIM = MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D006453 Hemoglobinopathy is a kind of genetic defect that results in… … Wikipedia
hemoglobinopathy — noun (plural thies) Date: 1957 a blood disorder (as sickle cell anemia) caused by a genetically determined change in the molecular structure of hemoglobin … New Collegiate Dictionary
hemoglobinopathy — noun Any of a range of inherited genetic disorders affecting hemoglobin … Wiktionary
hemoglobinopathy — A disorder or disease caused by or associated with the presence of abnormal hemoglobins in the blood, e.g., sickle cell disease, hemoglobin C, D, E, H, or I disorders. Occasionally, combinations of abnormal hemoglobins are seen in… … Medical dictionary
hemoglobinopathy — noun a blood disease characterized by the presence of abnormal hemoglobins in the blood • Syn: ↑haemoglobinopathy • Hypernyms: ↑blood disease, ↑blood disorder … Useful english dictionary
Hemoglobin — Hemoglobin, human, adult (heterotetramer, (αβ)2) Structure of human hemoglobin. The protein s α and β subunits are in red and blue, and the iron containing heme groups in green. Fro … Wikipedia
Thalassemia — Classification and external resources ICD 10 D56 ICD 9 282.4 … Wikipedia
Haemophilia — Classification and external resources Deficiency in coagulation factor VIII is the most common cause of haemophilia. ICD 10 D … Wikipedia
Haematopoiesis — Diagram showing the development of different blood cells from haematopoietic stem cell to mature cells Haematopoiesis (from Ancient Greek: αἷμα, blood ; ποιεῖν to make ) (or hematopoiesis in the United States; sometimes also haemopoiesis or… … Wikipedia
Sickle-cell disease — This article is about the disease itself. For the genetic transmission of sickle cell disease and its carrier state, see sickle cell trait. Sickle cell disease Classification and external resources Normal and sickle shaped red blood cells ICD 10 … Wikipedia