Alfinito F, Calabro V, Cappellini M D, Fiorelli G, Filosa S, Iolascon A, Miraglia del Giudice E, Perrotta S, Migliorati R, Vallone D
Division of Haematology, Medical School, Federico II University of Naples.
Br J Haematol. 1994 May;87(1):148-52. doi: 10.1111/j.1365-2141.1994.tb04885.x.
We have investigated two unrelated patients with congenital haemolytic anaemia in both of whom we found a combination of hereditary spherocytosis (HS) and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Segregation of the two defects was documented in both families, who had different molecular abnormalities for both HS and G6PD deficiency. In one family the propositus had a reduced level of spectrin and G6PD Seattle (282Asp-->His). In the other family the propositus had a band 3 abnormality and was heterozygous for G6PD Mediterranean (188Ser-->Phe). From a comparison of clinical and haematological findings in family members with either or both abnormalities we conclude that in one case the two defects exhibited a synergistic effect, resulting in a severe chronic haemolytic anaemia; whereas in the other the association was simply additive.
我们研究了两名患有先天性溶血性贫血的无关患者，在他们两人身上我们都发现了遗传性球形红细胞增多症（HS）和葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的组合。两个家庭都证实了这两种缺陷的分离情况，这两个家庭中HS和G6PD缺乏症都存在不同的分子异常。在一个家庭中，先证者的血影蛋白水平降低且患有G6PD西雅图型（282Asp→His）。在另一个家庭中，先证者存在带3异常，并且是G6PD地中海型（188Ser→Phe）的杂合子。通过对患有其中一种或两种异常的家庭成员的临床和血液学检查结果进行比较，我们得出结论，在一个病例中，这两种缺陷表现出协同效应，导致严重的慢性溶血性贫血；而在另一个病例中，这种关联只是简单的相加。
