血红蛋白 - 斯特鲁米察型或α2 112（G19）组氨酸被β2上的精氨酸取代。（附录：在同一人群中，血红蛋白 - J - 巴黎 - I型，α2 12（A10）丙氨酸被β2上的天冬氨酸取代）

Hemoglobin-Strumica or alpha 2 112(G19) His replaced by Arg beta 2. (With an addendum: hemoglobin-J-Paris-I, alpha 2 12(A10) Ala replaced by Asp beta 2, in the same population).

作者信息

Niazi G A, Efremov G D, Nikolov N, Hunter E, Huisman T H

出版信息

Biochim Biophys Acta. 1975 Nov 18;412(1):181-6. doi: 10.1016/0005-2795(75)90350-5.

PMID:1191675

Abstract

Hemoglobin-Strumica has been observed in five members of a Macedonian family. Histidyl residue in position 112 of the alpha chain of this variant is replaced by an arginyl residue. Two other variants (hemoglobin-Dakar and hemoglobin-Hopkins-2) in which this histidyl residue has been replaced by a glutaminyl and by an aspartyl residue, respectively, have been described (Rosa et al. (1968) 12 thCongr. Int. Soc. Haematol. New York, abstract, p. 73 and Charache, S. and Osterag, W. (1970) Bloodt 36, 852). The hemoglobin-Strumica heterozygotes have minimal hematological changes although this may not necessarily be associated with the hemoglobinopathy. Subjects heterozygous for hemoglobin-Dakar have a mild hemolytic anemia and hemoglobin-Hopkins-2 heterozygotes exhibit minimal hematological changes.

摘要

在一个马其顿家庭的五名成员中发现了血红蛋白-斯特鲁米察。该变体α链第112位的组氨酸残基被精氨酸残基取代。另外还描述了两个变体（血红蛋白-达喀尔和血红蛋白-霍普金斯-2），其中该组氨酸残基分别被谷氨酰胺残基和天冬氨酸残基取代（罗莎等人（1968年）第12届国际血液学协会大会，纽约，摘要，第73页以及查拉奇，S.和奥斯特拉格，W.（1970年）《血液》36，852）。血红蛋白-斯特鲁米察杂合子的血液学变化极小，尽管这不一定与血红蛋白病相关。血红蛋白-达喀尔杂合子受试者患有轻度溶血性贫血，而血红蛋白-霍普金斯-2杂合子的血液学变化极小。