Mild Homozygous Beta-Thalassemia

地中海贫血 医学 BETA(编程语言) 血红蛋白 β地中海贫血 基因座(遗传学) 血红蛋白A 遗传学 基因 内科学 生物 计算机科学 程序设计语言
作者
Paul Heller
出处
期刊:Annals of Internal Medicine [American College of Physicians]
卷期号:64 (1): 52-61 被引量:26
标识
DOI:10.7326/0003-4819-64-1-52
摘要

Article1 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. INGRAMSTRETTON VMAO: Genetic basis of the thalassemia diseases. Nature (London) 184: 1903, 1959. CrossrefMedlineGoogle Scholar2. RUCKNAGEL DL: Current concepts of the genetics of thalassemia. Ann. N. Y. Acad. Sci. 119: 436, 1964. CrossrefMedlineGoogle Scholar3. ZUCKERKANDL E: Controller-gene diseases: the operon model as applied to beta-thalassemia, familial fetal hemoglobinemia and the normal switch from the production of fetal hemoglobin to that of adult hemoglobin. J. Molec. Biol. 8: 128, 1964. CrossrefMedlineGoogle Scholar4. MOTULSKY AG: Current concepts of the genetics of thalassemia. Cold Spr. Harb. Symp. Quant. Biol. 29: 399, 1964. CrossrefMedlineGoogle Scholar5. BURKAMARKS ERPA: Ribosomes active in protein synthesis in human reticulocytes: a defect in thalassemia major. Nature (London) 199: 706, 1963. CrossrefMedlineGoogle Scholar6. SINGERKRAUSSINGERRUBINSTEINGOLDBERG KAPLHMSR: Studies on abnormal hemoglobins. X. A new syndrome: hemoglobin C-thalassemia disease. Blood 9: 1032, 1954. CrossrefMedlineGoogle Scholar7. CHINIVALERI VCM: Mediterranean hemopathic syndromes. Blood 4: 989, 1949. CrossrefMedlineGoogle Scholar8. PEARSON HA: Thalassemia intermedia. Genetic and biochemical considerations. Ann. N. Y. Acad. Sci. 119: 390, 1964. CrossrefMedlineGoogle Scholar9. BETKEKLEIHAUER KE: Fetaler und bleibender Blufarbstoff in Erythrocyten und Erythroblasten von menschlichen Fetan und Neugeborenen. Blut 4: 241, 1958. CrossrefMedlineGoogle Scholar10. SHEPARDWEATHERALLCONLEY MKDJCL: Semi-quantitative estimation of the distribution of fetal hemoglobin in red cell populations. Bull. Hopkins Hosp. 110: 293, 1962. MedlineGoogle Scholar11. HUISMAN TH: Normal and abnormal human hemoglobins, in Advances in Clinical Chemistry, vol. 6, edited by SOBOTKA, H., STEWART, C. P. Academic Press, New York, 1963, p. 231. Google Scholar12. HELLERYAKULISEPSTEINFRIEDLAND PVJRBS: Variation in the amount of hemoglobin S in a patient with sickle cell trait and megaloblastic anemia. Blood 21: 479, 1963. CrossrefMedlineGoogle Scholar13. MARSIJOSEPHSONSINGER MSAMK: Starch block electrophoretic studies of human hemoglobin solutions. I. Technic and results in the normal adult. Blood 13: 533, 1958. CrossrefMedlineGoogle Scholar14. BETKEMARTISCHLICHT KHRI: Estimation of small percentages of foetal haemoglobin. Nature (London) 184: 1877, 1959. CrossrefMedlineGoogle Scholar15. STURGEONITANOVALENTINE PHAWN: Chronic hemolytic anemia associated with thalassemia and sickling traits. Blood 7: 350, 1952. CrossrefMedlineGoogle Scholar16. SILVESTRONIBIANCO EI: Genetic aspects of sickle cell anemia and microdrepanocytic disease. Ibid., p. 429. Google Scholar17. ZUELZERKAPLAN WWE: Thalassemia—hemoglobin C disease. Blood 9: 1047, 1954. CrossrefMedlineGoogle Scholar18. JOSEPHSONSINGERSINGERHELLERZIMMERMAN AMKLPHJ: Hemoglobin S-thalassemia and hemoglobin C-thalassemia in siblings. Blood 12: 593, 1957. MedlineGoogle Scholar19. ITANOPAULING HAL: Thalassemia and the abnormal human haemoglobins. Nature (London) 191: 398, 1961. CrossrefMedlineGoogle Scholar20. INGRAM VM: A molecular model for thalassemia. Ann. N. Y. Acad. Sci. 119: 485, 1964. CrossrefMedlineGoogle Scholar21. GARZONBATTLELEWIS FLJDLA: Thalassemia intermedia—biochemical and genetic considerations; report of a case. Cleveland Clin. Quart. 27: 101, 1960. CrossrefGoogle Scholar22. PEARSONNOYES HAWD: Thalassemia intermedia; cases in Negro siblings with unusual differences in minor hemoglobin components. Blood 23: 829, 1964. CrossrefMedlineGoogle Scholar23. WENTMACIVER LNJE: Thalassemia in the West Indies. Blood 17: 166, 1961. CrossrefMedlineGoogle Scholar24. FESSAS P: Beta-chain thalassemia, in Haemoglobin Colloquium, edited by LEHMANN, H., BETKE, K. Georg Thieme Verlag, Stuttgart, 1962, p. 90. Google Scholar25. MALAMOSFESSASSTAMATOYANNOPOULOS BPG: Types of thalassemia-trait carriers as revealed by study of their incidence in Greece. Brit. J. Haemat. 8: 5, 1962. CrossrefMedlineGoogle Scholar26. ZUELZERROBINSONBOOKER WWARCR: Reciprocal relationship of hemoglobins A2 and F in beta chain thalassemias, a key to the genetic control of hemoglobin F. Blood 17: 393, 1961. CrossrefMedlineGoogle Scholar27. GABUZDANATHANGARDNER TGDGFH: Thalassemia trait. Genetic combinations of increased fetal and A2 hemoglobins. N. Eng. J. Med. 270: 1212, 1964. CrossrefMedlineGoogle Scholar28. WHEELERKREVANS JTJR: The homozygous state of persistent fetal hemoglobin and the interaction of persistent fetal hemoglobin with thalassemia. Bull. Hopkins Hosp. 109: 217, 1961. MedlineGoogle Scholar29. CONLEYWEATHERALLRICHARDSONSHEPARDCHARACHE CLDJSNMKS: Hereditary persistence of fetal hemoglobin: a study of 79 affected persons in 15 Negro families in Baltimore. Blood 21: 261, 1963. 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. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byA possible case of occult bacteremia caused by Pseudomonas luteola (CDC group VE-1)The silent carrier of beta thalassemia: interaction with the typical beta thalassemic traitThe Heterogeneity of Normal Hb A 2 -β Thalassaemia in GreeceThe diagnosis of beta-thalassemia trait: A reviewBeta-Thalassaemia of Clinical Significance in Adult Jamaican NegroesTHALASSEMIA IN BLACK AMERICANSA New Variant of Sickle-Cell Disease with High Levels of Foetal Haemoglobin Homogeneously Distributed within Red CellsHaematological Data in 312 Cases of β-Thalassaemia Trait in ThailandGamma-Beta Thalassemia: A Cause of Hemolytic Disease of the NewbornNormal and Abnormal Human HemoglobinsInherited disorders of hemoglobin synthesis and pregnancyProlonged Survival in Homozygous High A2-Type Beta ThalassaemiaThe Silent Carrier of Beta ThalassemiaALPHA- AND BETA-THALASSEMIA IN THAILANDRefractory anemiasHemoglobin E: Distribution and population dynamicsHemoglobinopathic dysfunction of the red cell 1 January 1966Volume 64, Issue 1Page: 52-61KeywordsBeta-thalassemiaHealth services researchHemoglobinHospital medicinePediatricsPolypeptidesResearch fundingResearch grantsThalassemiaVeteran care ePublished: 1 December 2008 Issue Published: 1 January 1966 PDF downloadLoading ...

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