FREQUENCY AND CLINICAL-SIGNIFICANCE OF ERYTHROCYTE GENETIC ABNORMALITIES IN OMANIS

被引：44

作者：

WHITE, JM ^{[1
]}

CHRISTIE, BS ^{[1
]}

NAM, D ^{[1
]}

DAAR, S ^{[1
]}

HIGGS, DR ^{[1
]}

机构：

[1] JOHN RADCLIFFE HOSP,INST MOLEC MED,MRC,MOLEC HAEMATOL UNIT,OXFORD OX3 9DU,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1993年 / 30卷 / 05期

关键词：

D O I：

10.1136/jmg.30.5.396

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The frequencies of four malaria associated erythrocyte genetic abnormalities have been established in 1000 Omani subjects. They are: homozygous alpha+ thalassaemia (-alpha/-alpha) 0.45; high Hb A2 beta thalassaemia trait 0.015; sickle trait (Hb A/S) 0.061; and glucose 6 phosphate dehydrogenase deficiency (Gd-): males 0.27, females 0.11. From our data the alpha+ (-alpha/) thal gene (confirmed by Southern blotting) is pandemic in this population. Moreover, in spite of the very high frequency of Gd-, oxidative haemolytic syndromes are very uncommon. Also preliminary data indicate that among the Omani population with sickle cell disease, homozygosity of the alpha+ gene markedly modifies the clinical picture.

引用

页码：396 / 400

页数：5

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