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利比亚一个家族中4名兄弟姐妹的遗传性铁粒幼细胞贫血——常染色体遗传。

Hereditary sideroblastic anaemia in 4 siblings of a Libyan family--autosomal inheritance.

作者信息

Kasturi J, Basha H M, Smeda S H, Swehli M

出版信息

Acta Haematol. 1982;68(4):321-4. doi: 10.1159/000207001.

Abstract

Most of the hereditary sideroblastic anaemias are inherited as x-linked recessive traits and are often pyridoxine responsive. The present paper describes the classical features of sideroblastic anaemia in 2 male and 2 female siblings of a Libyan family. All 4 children had severe anaemia and moderate hepato-splenomegaly. The equal severity of the disease in all 4 family members suggests autosomal inheritance.

摘要

大多数遗传性铁粒幼细胞贫血是以X连锁隐性性状遗传的,且通常对吡哆醇有反应。本文描述了一个利比亚家庭中2名男性和2名女性兄弟姐妹的铁粒幼细胞贫血的典型特征。所有4名儿童都患有严重贫血和中度肝脾肿大。所有4名家庭成员中疾病严重程度相同,提示为常染色体遗传。

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