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[血红蛋白病。当前的治疗可能性]

[Hemoglobinopathies. Current therapeutic possibilities].

作者信息

Birgens H S, Karle H

机构信息

Medicinsk-haematologisk afdeling L., Amtssygehuset i Herlev.

出版信息

Ugeskr Laeger. 1995 May 29;157(22):3179-85.

PMID:7770980
Abstract

In recent years, the number of immigrants has increased considerably in Denmark. Consequently, a series of new clinical pictures has appeared in the Danish health care system. Typical examples are the genetic diseases, the haemoglobinopathies. Most of the immigrants come from areas, where the gene frequency of these disorders is widely distributed, for instance the Mediterranean countries, the Middle East, Southeast Asia and Africa. Most frequent are the heterozygous thalassaemias, but also the number of patients with severe thalassaemia and other clinically important haemoglobinopathies such as sickle cell anaemia has also increased in recent years. The clinical problems concerning these patients focus on two important topics, namely genetic counselling of heterozygous individuals (in some cases combined with prenatal diagnostics) and the treatment of patients with clinically severe haemoglobinopathy. The only curative treatment of the haemoglobinopathies is allogeneic bone marrow transplantation, but this treatment can only be offered to a few of these patients. However, a variety of therapeutic options exist which can improve their prognosis and quality of life. Since the number of patients with these diseases will probably increase over the next years we find it relevant, based on typical case stories, to give a review of the present therapeutic possibilities for these disorders.

摘要

近年来,丹麦的移民数量大幅增加。因此,丹麦医疗保健系统中出现了一系列新的临床病症。典型的例子是遗传性疾病,即血红蛋白病。大多数移民来自这些疾病基因频率广泛分布的地区,例如地中海国家、中东、东南亚和非洲。最常见的是杂合子地中海贫血,但近年来重型地中海贫血患者以及其他临床上重要的血红蛋白病(如镰状细胞贫血)患者的数量也有所增加。与这些患者相关的临床问题集中在两个重要方面,即杂合子个体的遗传咨询(某些情况下结合产前诊断)以及临床重型血红蛋白病患者的治疗。血红蛋白病唯一的治愈性治疗方法是异基因骨髓移植,但这种治疗仅适用于少数此类患者。然而,存在多种治疗选择,可以改善他们的预后和生活质量。由于这些疾病的患者数量在未来几年可能会增加,我们认为基于典型病例,对这些病症目前的治疗可能性进行综述是有意义的。

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