Brien W F, Mant M J, Etches W S
Clin Lab Haematol. 1985;7(3):231-7. doi: 10.1111/j.1365-2257.1985.tb00030.x.
A family is described with mild anaemia characterized by marked dyserythropoiesis and by prominent ringed sideroblasts. Inheritance is autosomal recessive. Other features include marked microcytosis, poikilocytosis, mild haemolysis, slightly increased haemoglobin A2, bone marrow erythroid hyperplasia and non-specific structural abnormalities of erythroid precursors on electron microscopy. This appears to be a previously unreported type of hereditary anaemia with both dyserythropoiesis and ringed sideroblasts. We propose the designation 'variant congenital dyserythropoietic anaemia with ringed sideroblasts'.
本文描述了一个患有轻度贫血的家族，其特征为显著的红细胞生成异常和大量环形铁粒幼红细胞。遗传方式为常染色体隐性遗传。其他特征包括显著的小红细胞症、异形红细胞症、轻度溶血、血红蛋白A2略有升高、骨髓红系增生以及电子显微镜下红系前体细胞的非特异性结构异常。这似乎是一种先前未报道过的兼具红细胞生成异常和环形铁粒幼红细胞的遗传性贫血。我们建议将其命名为“伴有环形铁粒幼红细胞的变异型先天性红细胞生成异常性贫血”。
