Iolascon A, Miraglia del Giudice E, Camaschella C, Pinto L, Nobili B, Perrotta S, Cutillo S
Dipartimento di Pediatria, I Facoltà di Medicina, Università di Napoli, Italy.
Br J Haematol. 1991 Aug;78(4):551-4. doi: 10.1111/j.1365-2141.1991.tb04487.x.
We describe three Italian subjects from two unrelated families affected with isolated hereditary spherocytosis (HS) without other clinical abnormalities, associated with partial spectrin and ankyrin deficiency. In both families the propositus has normal biological parents, and thus appears to be the result of a new mutation; in one of them the disease is further transmitted in an autosomal dominant fashion. Cytogenetic analysis of the latter family excluded abnormalities of the short arm of chromosome 8. We speculate that in both kindreds ankyrin deficiency is the primary defect related to ankyrin gene mutation. Several pieces of evidence suggest that ankyrin deficiency is probably the most common molecular defect in HS. It is inherited in a, dominant manner and its clinical and biochemical expression is heterogenous.
我们描述了来自两个无亲缘关系家庭的三名意大利受试者，他们患有孤立性遗传性球形红细胞增多症（HS），无其他临床异常，伴有部分血影蛋白和锚蛋白缺乏。在这两个家庭中，先证者的亲生父母均正常，因此似乎是新突变的结果；其中一个家庭中，该病以常染色体显性方式进一步遗传。对后一个家庭的细胞遗传学分析排除了8号染色体短臂的异常。我们推测，在这两个家族中，锚蛋白缺乏是与锚蛋白基因突变相关的主要缺陷。有几条证据表明，锚蛋白缺乏可能是HS中最常见的分子缺陷。它以显性方式遗传，其临床和生化表现具有异质性。
