西班牙δ-β地中海贫血：10例纯合子患者的血液学研究及γ链组成

Spanish delta-beta-thalassemia: hematological studies and composition of the gamma-chains in ten homozygous patients.

作者信息

Baiget M, Gimferrer E, Fernández I, Romero C, Mira Y, Pérez M L, Miguel A

出版信息

Acta Haematol. 1983;70(5):341-4. doi: 10.1159/000206771.

DOI:10.1159/000206771

PMID:6194643

Abstract

We report the hematological studies and the composition of the gamma-chains of 10 homozygous delta beta(0)-thalassemia patients belonging to 6 families. These patients showed a mild to moderate chronic hemolytic anemia, morphological changes typical of thalassemia and 100% fetal hemoglobin in their peripheral blood. The homozygous studied synthesized A gamma- and G gamma-chains in approximately equal amounts, and the fetal hemoglobin with a threonyl residue at position 75 is present and accounts for all the A gamma production.

摘要

我们报告了来自6个家庭的10例纯合δβ(0) -地中海贫血患者的血液学研究结果以及γ链的组成。这些患者表现出轻度至中度的慢性溶血性贫血、地中海贫血典型的形态学变化，且外周血中胎儿血红蛋白含量为100%。所研究的纯合子合成的Aγ链和Gγ链数量大致相等，并且存在第75位带有苏氨酰残基的胎儿血红蛋白，且所有Aγ的产生均由此导致。