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[哥本哈根县的血红蛋白病]

[Hemoglobinopathy in the county of Copenhagen].

作者信息

Birgens H S, Karle H, Guldberg P, Güttler F

机构信息

Amtesygehuset i Herlev, medicinsk hematologisk afdeling L.

出版信息

Ugeskr Laeger. 1997 Jun 16;159(25):3934-9.

PMID:9214066
Abstract

In Copenhagen County, haemoglobinopathy was centralized to the Department of Haematology L, Herlev University Hospital from January 1995. All pregnant women of relevant ethnic origin admitted to the obstetric departments of the Country in 1995, were examined by haemoglobin electrophoresis. furthermore, we performed haemoglobin electrophoresis on immigrants admitted on suspicion of haemoglobinopathy. 24 (4.8%) of 505 examinations in pregnant women were abnormal. 12 reflected a carrier condition for either beta-thalassaemia or sickle cell disease; 53 of 82 examinations in non-pregnant patients were abnormal; 29 had beta-thalassaemia minor and the rest included the haemoglobin variants C, D, E, H and S, mostly in a heterozygous from. The genetic lesions, all of which were mutations, were characterized by molecular genetic analysis in 13 cases with demonstrated beta-gene disorder. The gene frequency of haemoglobinopathies among immigrants to Denmark is common. The Danish health care system must therefore be prepared to address this problem including the clinical aspects, screening and molecular biological examinations, prenatal diagnosis and genetic counselling.

摘要

自1995年1月起,哥本哈根郡的血红蛋白病患者被集中转诊至赫勒夫大学医院的血液科L。1995年,该国产科收治的所有相关种族孕妇均接受了血红蛋白电泳检查。此外,我们还对疑似血红蛋白病的移民进行了血红蛋白电泳检查。505例孕妇检查中有24例(4.8%)异常。其中12例显示为β地中海贫血或镰状细胞病携带者;82例非孕妇检查中有53例异常;29例为轻度β地中海贫血,其余包括血红蛋白变异体C、D、E、H和S,大多为杂合子形式。在13例经证实存在β基因紊乱的病例中,通过分子遗传学分析对所有遗传病变(均为突变)进行了特征描述。丹麦移民中血红蛋白病的基因频率较高。因此,丹麦医疗保健系统必须做好准备,应对这一问题,包括临床方面、筛查和分子生物学检查、产前诊断以及遗传咨询。

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