Dincol G, Altay C, Aksoy M, Gurgey A, Felice A E, Huisman T H
Hemoglobin. 1981;5(2):153-64. doi: 10.3109/03630268108996921.
Two homozygous delta 0 beta 0-thalassemia patients, one with the G gamma A gamma type and the other with the G gamma type, and their heterozygous parents are described. Red cell indices among the heterozygotes with the G gamma A gamma type of delta 0 beta 0-thalassemia were markedly different from those in heterozygotes with the G gamma type. However, the imbalance in in vitro hemoglobin synthesis was quite similar in the two heterozygous conditions. The same was observed for the homozygous patients; the in vitro chain synthesis was severely imbalanced as seen in beta-thalassemia major. The clinical and some of the hematological findings were milder in the G gamma-delta 0 beta 0-thalassemia homozygote than in the G gamma A gamma-delta 0 beta 0-thalassemia homozygote. The death of a sibling of the G gamma-delta 0 beta 0-thalassemia homozygote with a diagnosis of thalassemia major suggests that both types of delta 0 beta 0-thalassemia could follow a severe clinical and hematological course. The discovery of the G gamma type of delta 0 beta 0-thalassemia in a Turkish child shows that two types of delta 0 beta 0-thalassemia can be found in that country. Differentiation between the two types can only be made through structural analyses of Hb F.
描述了两名纯合子δ⁰β⁰地中海贫血患者，一名为GγAγ型，另一名为Gγ型，以及他们的杂合子父母。GγAγ型δ⁰β⁰地中海贫血杂合子的红细胞指数与Gγ型杂合子的红细胞指数明显不同。然而，在两种杂合状态下，体外血红蛋白合成的不平衡相当相似。纯合子患者也观察到同样的情况；体外链合成严重失衡，如同重型β地中海贫血所见。Gγ-δ⁰β⁰地中海贫血纯合子的临床和一些血液学表现比重型GγAγ-δ⁰β⁰地中海贫血纯合子的要轻。一名诊断为重型地中海贫血的Gγ-δ⁰β⁰地中海贫血纯合子的同胞死亡，这表明两种类型的δ⁰β⁰地中海贫血都可能呈现严重的临床和血液学病程。在一名土耳其儿童中发现了Gγ型δ⁰β⁰地中海贫血，这表明在该国可以发现两种类型的δ⁰β⁰地中海贫血。两种类型之间的区分只能通过对Hb F的结构分析来进行。
