Combinations of hemoglobin G, hemoglobin S and thalassemia occurring in one family.

نویسندگان

  • H C SCHWARTZ
  • T H SPAET
  • W W ZUELZER
  • J V NEEL
  • A R ROBINSON
  • S F KAUFMAN
چکیده

iii hemoglobin forniatiomi am’e present siniult.aneoumsly. As a result of such studies, it has been shown that the genes m’esponsihle for hemogbobins C amid S are very proi)ably ableies,m amid that. the genetic locus involved iii the produmction of these two types of abnormual heniogbobin is imidependemit of the thalassemia locus,2’ although the latter conclusion is complicated by the growing realization that there muay be several thalassemiiia boci.4 Thus far, family studies which would permnit (‘onclusions concennimig the genetic nelatiomisliips of the gemies respomisible for hemnoglobins D, E, G, H, I amid J, to one another and to the above nientiomied gemies, have not been presented. This paper is concenmied with a family in which there appear to be present three gemies resulting in abnormalities imi hemoglobin produictiomi, namely, the thalassemuia gene, the geiie m’espomisihle for hemoglobin 5, and the gemie for an abnormnal hemoglobin (oniponent which in its properties meets the definitiomi of hemoglobin G.5 6 Because of the fortumiate (‘omnbinations (genetically speaking) imi which these genes o’cur in various memiibers of the family, a ntmmber of comiclusions cami be drawn comicernimig the gemieti(’, biochemical and clinical m’elations of the genes. In addition, certain other basic qumcstions concernimig the relation between genotype amid hemoglobin patterns am’c raised. A prelimninary account of this family bias already l)ecn puml)lished.’

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عنوان ژورنال:
  • Blood

دوره 12 3  شماره 

صفحات  -

تاریخ انتشار 1957