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血红蛋白SD病——黄疸罕见病例。

Haemoglobin SD disease--rare case of jaundice.

作者信息

Ghosh Udas Chandra, Sen Krishna, Narayan Atindra, Banik Kajal Krishna, Saha Pradip Kumar

机构信息

Department of Medicine, RG Kar Medical College, Kolkata.

出版信息

J Indian Med Assoc. 2012 Jul;110(7):501-2.

PMID:23520682
Abstract

A 15 years old Muslim female presented with moderate anaemia, mild jaundice and hepatosplenomegaly with no history of blood transfusion in the past. Routine examination was suggestive of haemolytic jaundice. High pressure liquid chromatography (HPLC) electrophoresis of the patient's blood showed haemoglobin (Hb) SD disease. As it is a double heterozygous disease, family screening was done. It showed that the father was sickle cell trait. Mother was Hb D trait. Both the brothers were sickle cell trait and the only sister was normal. Hb SD disease is a very rare variety of haemoglobinopathy and the case is presented here due to its rarity.

摘要

一名15岁的穆斯林女性,有中度贫血、轻度黄疸和肝脾肿大,既往无输血史。常规检查提示溶血性黄疸。患者血液的高压液相色谱(HPLC)电泳显示血红蛋白(Hb)SD病。由于这是一种双杂合子疾病,因此进行了家族筛查。结果显示父亲为镰状细胞性状,母亲为Hb D性状。两个兄弟均为镰状细胞性状,唯一的妹妹正常。Hb SD病是一种非常罕见的血红蛋白病,因其罕见性,故在此呈现该病例。

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