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Beta-Globin Gene Haplotypes in the Saudi Sickle Cell Anaemia Patients

 

作者: Mohsen Ali Faris El-Hazmi,  

 

期刊: Human Heredity  (Karger Available online 1990)
卷期: Volume 40, issue 3  

页码: 177-186

 

ISSN:0001-5652

 

年代: 1990

 

DOI:10.1159/000153927

 

出版商: S. Karger AG

 

关键词: β-Globin gene;Sickle cell anaemia;Saudi Arabia;Restriction fragment length polymorphism

 

数据来源: Karger

 

摘要:

The βs-globin gene haplotypes were investigated using restriction endonucleases Hinc II and Hind III in 22 sickle cell anaemia patients from the eastern province, 67 sickle cell anaemia patients from the south-western province and 4 sickle cellanaemia patients from north-western province. The βs was found to be mainly linked tothe haplotype + – + in the eastern province (50% homozygous and 45.45 % heterozygous), and – – – – + haplotypes in the south-western (44.77% homozygous and 43.28% heterozygous) and north-western (100% homozygous) provinces. A comparison of the haematological values and clinical manifestations in patients with the two major haplotypes revealed significant differences, with the disease presenting more severely in the south-western compared to the eastern population. The level of Hb F was not significantly different in the two groups and no association could be demonstrated between the β-globin gene haplotype and Hb F level. These results have led us to suggest that the haplotype + + – ++ is in some way linked to a benign sickle cell anaemia, though the exact mechanism leading to a benign diseas

 

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