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贝吉施地区德裔家族中的轻型地中海贫血(作者译)

[Thalassemia minor in families of German descent in the Bergische Land (author's transl)].

作者信息

Streit W

出版信息

MMW Munch Med Wochenschr. 1977 Feb 18;119(7):215-8.

PMID:403446
Abstract

Heterozygous classical beta-thalassemia was found in 13 subjects of pure German descent, 11 of them from the Bergische Land (NW Germany) during the past three years. Clinically it became manifest in a moderate degree of anemia with marked hypochromia and reduced mean corpuscular volume. The number of red blood corpuscles and the value for serum iron were ascertained to be in the upper limits of normal or raised. The diagnosis of Mediterranean anemia was confirmed by hemoglobin electrophoresis with a rise in HbA2 of more than 3%. A slight increase in HbF may also occur. The importance of genetic counseling of thalassemia patients is emphasized. The occurrence of thalassemia even in pure German populations must be increasingly reckoned with.

摘要

在过去三年中,在13名纯德国血统的受试者中发现了杂合子型经典β地中海贫血,其中11人来自贝吉施地区(德国西北部)。临床上,其表现为中度贫血,伴有明显的低色素血症和平均红细胞体积降低。红细胞数量和血清铁值被确定处于正常上限或升高。通过血红蛋白电泳确诊为地中海贫血,HbA2升高超过3%。HbF也可能略有升高。强调了地中海贫血患者遗传咨询的重要性。即使在纯德国人群中,也必须越来越重视地中海贫血的发生。

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