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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