Mild Homozygous Beta-Thalassemia
1966; American College of Physicians; Volume: 64; Issue: 1 Linguagem: Inglês
10.7326/0003-4819-64-1-52
ISSN1539-3704
Autores Tópico(s)Blood groups and transfusion
ResumoArticle1 January 1966Mild Homozygous Beta-ThalassemiaFurther Evidence for the Heterogeneity of Beta-Thalassemia GenesPAUL HELLER, M.D., F.A.C.P., VINCENT J. YAKULIS, B.S., ARNOLD I. ROSENZWEIG, M.D., CHARLES F. ABILDGAARD, M.D., DONALD L. RUCKNAGEL, M.D., PH.D.PAUL HELLER, M.D., F.A.C.P.Search for more papers by this author, VINCENT J. YAKULIS, B.S.Search for more papers by this author, ARNOLD I. ROSENZWEIG, M.D.Search for more papers by this author, CHARLES F. ABILDGAARD, M.D.Search for more papers by this author, DONALD L. RUCKNAGEL, M.D., PH.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-64-1-52 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptThe genetic and biochemical basis of thalassemia is not known, but it is generally envisioned that the normally highly integrated chain of molecular events governing the synthesis of the polypeptide chains of normal adult hemoglobin (α2Aβ2A) is disturbed at a still unknown level resulting in a significant decrease in the rate of hemoglobin production (1-5). This disturbance may more or less selectively affect the synthesis of either the alpha- or the beta-polypeptide chain of hemoglobin, referred to as alpha- and beta-thalassemia, respectively. Beta-thalassemia is characteristically associated with a twofold increase in the relative proportion of hemoglobin A2. The chromosomal locus...References1. 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CrossrefMedlineGoogle Scholar30. HELLERYAKULIS PVJ: Unequal distribution of normal amounts of fetal hemoglobin. Unpublished data. Google Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAuthors: PAUL HELLER, M.D., F.A.C.P.; VINCENT J. YAKULIS, B.S.; ARNOLD I. ROSENZWEIG, M.D.; CHARLES F. ABILDGAARD, M.D.; DONALD L. RUCKNAGEL, M.D., PH.D.Affiliations: Chicago, Illinois, and Ann Arbor, MichiganFrom the Veterans Administration West Side Hospital and Departments of Pediatrics and Medicine, University of Illinois College of Medicine, Chicago, Ill., and the Department of Human Genetics, University of Michigan, Ann Arbor, Mich.This study was supported in part by Veterans Administration medical research funds, a grant from the Hematology Research Foundation, Chicago, U. S. Public Health Service research grant HE 07418, National Heart Institute, and training grant TI-AM 5344 from the National Institute of Arthritis and Metabolic Diseases, National Institutes of Health, Bethesda, Md.Requests for reprints should be addressed to Paul Heller, M.D., Veterans Administration West Side Hospital, 820 S. Damen Ave., Chicago, Ill. 60612. 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