alpha-Thalassemia caused by an unstable alpha-globin mutant.
نویسندگان
چکیده
منابع مشابه
Regulation of human alpha-globin gene expression and alpha-thalassemia.
Hemoglobin and globin genes are important models for studying protein and gene structure, function and regulation. We reviewed the main aspects of regulation of human alpha-globin synthesis, encoded by two adjacent genes (alpha(2) and alpha(1)) clustered on chromosome 16. Their expression is controlled mainly by a regulatory element located 40 kb upstream on the same chromosome, the alpha-major...
متن کاملControlling alpha-globin: a review of alpha-globin expression and its impact on beta-thalassemia.
Synthesis of alpha-globin and alpha-globin subunits of hemoglobin occurs at high levels during erythrocyte differentiation in a tightly controlled and coordinated fashion. Expression of alpha-globin is a fascinatingly complex process which has been meticulously defined in several recent studies, from chromatin modifications to Pol II recruitment. Following this, alpha-globin transcripts are pro...
متن کاملGlobin chain synthesis in the alpha thalassemia syndromes.
Whole blood samples of patients with various forms of alpha thalassemia including hemoglobin H disease, alpha thalassemia trait, and the "silent carrier" state were incubated with leucine-(14)C for definition of relative rates of production of alpha and beta chains in these disorders. The chains were separated by carboxymethyl cellulose chromatography in the presence of 8 M urea and dithiothrei...
متن کاملdetection of unknown deletions in alpha globin genes in alpha thalassemia carriers using real-time pcr
objective: alpha-thalassemia is one of the most prevalent hemoglobin disorders in the world and it is a common hereditary condition caused by deletion of one or more α-globin genes. common α-thalassemia deletions like 3.7 kb, 4.2 kb, 20.5 kb and med can be detected by multiplex pcr. there are, however, some unknown deletions that can not be detected by the mentioned method or even by direct dna...
متن کاملHydrops fetalis caused by alpha-thalassemia: an emerging health care problem.
HYDROPS FETALIS is a serious disorder, usually indicative of an ominous prognosis for the affected fetus. There are many causes, including both hereditary and acquired diseases.1-3 In southeast Asia, a-thalassemia is the most common cause of fetal hydrops, accounting for 60% to 90% of the cases.4-7 With population migrations during the past decades, this syndrome is now seen in increasing numbe...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1983
ISSN: 0021-9738
DOI: 10.1172/jci110790