Reyes G R, Piña-Camara A, Felice A E, Gravely M E, Huisman T H
Hemoglobin. 1978;2(6):513-29. doi: 10.3109/03630267809005353.
Three delta beta-thalassemia homozygotes were found in a Mexican family. Both parents and two sibling had heterozygous delta beta-thalassemia with about 10% Hb F, mild microcytosis and mild hypochromia, while three siblings were normal. Hb F, which was the only Hb component in the homozygotes, had equal quantities of Ggamma and Agamma chains as in BgammaAgamma-delta beta-thalassemia. The homozygotes had comparable erythrocytic indices which were about the same as those of the heterozygotes. However, two were clinically and hematologically healthy but the third had a severe chronic hemolytic anemia and a more severe in vitro chain synthesis imbalance than her homozygous sisters. Comparison of these cases with other GgammaAgamma-delta beta-thalassemia homozygotes and with GgammaAgamma-HPFH homozygotes indicates the possibility that the proliferation of F-cell precursors may be defective in delta beta-thalassemia.
在一个墨西哥家庭中发现了三名δβ地中海贫血纯合子。父母和两名兄弟姐妹患有杂合子δβ地中海贫血，有大约10%的Hb F，轻度小红细胞症和轻度低色素血症，而另外三名兄弟姐妹正常。Hb F是纯合子中唯一的血红蛋白成分，其Gγ链和Aγ链的数量与BγAγ-δβ地中海贫血中的相同。纯合子具有与杂合子相当的红细胞指数。然而，两名纯合子临床和血液学表现正常，但第三名患有严重的慢性溶血性贫血，并且其体外链合成失衡比她的纯合子姐妹更严重。将这些病例与其他GγAγ-δβ地中海贫血纯合子以及GγAγ-HPFH纯合子进行比较表明，在δβ地中海贫血中F细胞前体的增殖可能存在缺陷。
