Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia.
نویسندگان
چکیده
منابع مشابه
A family case of beta-thalassemia minor and hemoglobin Queens: alpha 34 (B15) Leu-Arg.
We report a Korean family case of beta-thalassemia minor and Hb Queens. This is the first case report of Hb Queens in Korea. A 43-year-old male and his four family members had beta-thalassemia minor which is very rare in Korea. Incidentally, an alpha chain variant with a high isoelectric point was also found in two other family members without clinical problems and was finally identified as alp...
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Alpha thalassemia (α-thal) is relatively common worldwide. Most carriers are defective in either one or two alpha globin genes out of four functional ones, with deletions being more common than point mutations. The hematologic features are very important for the selection of the appropriate molecular tests while determining the genotype. The aim of this study was to compare hematologic features...
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The thalassaemias, the commonest monogenic diseases, are a family of inherited disorders of haemoglobin synthesis characterised by a reduced output of one or other of the globin chains of adult haemoglobin. They are likely to pose an increasing health problem for many developing countries during the early part of the new millennium (1). This review focuses mainly on their control and management...
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Hb D is a clinically silent condition, but co-inheritance of Hb D with sickle cell or thalassemia produces clinically significant conditions like sickle cell anemia or thalassemia intermedia and chronic hemolytic anemia of moderate severity. Here we present a case of homozygous Hb D with alpha 3.7kb deletion and phenotypic effect on patients. Diagnosis of Hb D patient was performed by high perf...
متن کاملAn unusual hemoglobin anomaly and its relation to alpha-thalassemia and hemoglobin-H disease.
A Chinese family with hemoglobin H in the propositus has been reinvestigated. Although the original propositus is now deceased, a sister has the same hematological manifestations. Her hemoglobin, like that of the deceased sister, contains hemoglobins A, H, and Bart's. In addition, however, two minor components have been detected. These minor components appear to have abnormal alpha-chains and a...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1984
ISSN: 0021-9738
DOI: 10.1172/jci111382