普利亚地区的α地中海贫血：生物合成研究
alpha-Thalassaemia in Apulia: biosynthetic studies.
作者信息
Guanti G, Lonoce A, Pietrapertosa A, Polimeno G, Tannoia N
出版信息
J Med Genet. 1983 Jun;20(3):206-9. doi: 10.1136/jmg.20.3.206.
Analysis of haemoglobin chain synthesis was performed in 15 Apulian patients with Hb H disease and in their patients and offspring. The Apulian carriers of Hb H disease show a marked imbalance of alpha and beta chain synthesis (0.39 +/- 0.1) with variable clinical and haematological manifestations. However, we are dealing with an intermediate form similar to that described in Italians from other regions. A significant difference was found between the mean alpha/beta ratio values (0.81 +/- 0.13) of parents and offspring of Hb H patients and those of the normal controls (1.05 +/- 0.09); however, extensive overlapping between these two groups exists. These results have led us to the conclusion that the forms of alpha-thalassaemia found in Apulia are similar to the alpha defects observed in Sicily; in both cases, in fact, haemoglobin chain synthesis was an unreliable test for discriminating between alpha-thalassaemia-1 trait and alpha-thalassaemia-2 trait.
对15名患有血红蛋白H病的普利亚患者及其亲属和后代进行了血红蛋白链合成分析。普利亚地区血红蛋白H病的携带者表现出α链和β链合成明显失衡（0.39±0.1），伴有不同的临床和血液学表现。然而，我们所研究的是一种类似于其他地区意大利人所描述的中间型。血红蛋白H病患者的父母及后代的平均α/β比值（0.81±0.13）与正常对照组（1.05±0.09）之间存在显著差异；然而，这两组之间存在广泛的重叠。这些结果使我们得出结论，在普利亚地区发现的α地中海贫血类型与在西西里岛观察到的α缺陷相似；事实上，在这两种情况下，血红蛋白链合成对于区分α地中海贫血-1特征和α地中海贫血-2特征都是不可靠的检测方法。
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