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一名年轻利比里亚人患纯合子β地中海贫血伴单眼突然失明

Sudden monocular blindness associated with homozygous B-thalassemia in a young Liberian.

作者信息

Njoh J, York S

机构信息

Department of Medicine, University of Liberia, Monrovia.

出版信息

East Afr Med J. 1990 May;67(5):373-5.

PMID:2390961
Abstract

A 16-year old Liberian female presented with sudden monocular blindness. Physical examination and laboratory investigations were normal except that the patient had homozygous B-Thalassemia (HbA 58%, HbF 5% and HbA2 7.0%). Family study revealed that both parents had B-Thalassemia trait. We feel that the association of sudden monocular blindness with homozygous B-Thalassemia which has not been reported before, is not fortuitous but causal. It is therefore suggested that homozygous B-Thalassemia be added to the list of haemoglobinopathies (HbAS, SS and SC) that have been reported to cause blindness as complication.

摘要

一名16岁的利比里亚女性出现突然的单眼失明。体格检查和实验室检查均正常,只是该患者为纯合子β地中海贫血(HbA 58%,HbF 5%,HbA2 7.0%)。家族研究显示父母双方均有β地中海贫血特征。我们认为,此前未被报道过的突然单眼失明与纯合子β地中海贫血之间的关联并非偶然,而是存在因果关系。因此建议将纯合子β地中海贫血添加到已报道可导致失明并发症的血红蛋白病(HbAS、SS和SC)列表中。

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