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一名患有III型先天性红细胞生成异常性贫血的患者出现死产。

A patient with congenital dyserythropoietic anaemia type III presenting with stillbirths.

作者信息

Jijina F, Ghosh K, Yavagal D, Pathare A V, Mohanty D

机构信息

Department of Haematology, KEM Hospital, Parel, Bombay, India.

出版信息

Acta Haematol. 1998;99(1):31-3. doi: 10.1159/000040712.

Abstract

A 28-year-old female patient presented with recurrent stillbirths between 28 and 30 weeks of gestation. At least one of the stillborn was hydropic at birth; alpha-thalassaemia and Rh isoimmunisation were ruled out. The patient was found to be suffering from congenital dyserythropoietic anaemia (CDA) type III, a rare form of congenital anaemia inherited as an autosomal dominant character in some families. It is tempting to speculate that at least the hydropic stillborn inherited the same disorder from the mother. CDA type III as a cause of hydrops fetalis has not been reported in the literature. The patient, who was transfusion-dependent, underwent splenectomy. Subsequently she did not need any transfusion for the last 6 months.

摘要

一名28岁女性患者在妊娠28至30周期间反复出现死产。至少有一个死产儿出生时为水肿胎儿;已排除α地中海贫血和Rh血型不合。该患者被诊断患有III型先天性红细胞生成异常性贫血(CDA),这是一种罕见的先天性贫血,在某些家族中以常染色体显性特征遗传。很容易推测,至少水肿的死产儿从母亲那里遗传了相同的疾病。文献中尚未报道III型CDA作为胎儿水肿的病因。该患者依赖输血,接受了脾切除术。随后,她在过去6个月中无需任何输血。

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