haemoglobinopathies

haemoglobinopathies
Disorders due to abnormalities in the haemoglobin molecule, the best known being sickle-cell anaemia in which there is a single amino acid substitution (valine for glutamate) in position 6 of the b chain. In other cases one of the globin chains is synthesized at a slower rate, despite being normal in structure. See also thalassemia.

Dictionary of molecular biology. 2004.

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  • 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

  • David Weatherall — Sir David John Weatherall (born 9 March 1933) is a British physician and researcher in molecular genetics, haematology, pathology and clinical medicine. His research concentrated on the genetics of the haemoglobinopathies and, in particular, a… …   Wikipedia

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  • Thalassémie — Les thalassémies, encore appelées dans leur forme majeure anémie ou maladie de Cooley, sont des formes d anémies héréditaires associées à une hémoglobinopathie (déficience dans la synthèse d une ou de plusieurs des quatre chaînes formant l… …   Wikipédia en Français

  • microcytosis — n. the presence of abnormally small red cells (microcytes) in the blood. Microcytosis is a feature of certain anaemias (microcytic anaemias), including iron deficiency anaemias, certain haemoglobinopathies, anaemias associated with chronic… …   The new mediacal dictionary

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