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A new Variant, Hb Muscat [α2β232(B14)Leu→val] Observed in Association With Hb S in an Arabian Family

 

作者: RamachandranM.,   H.L,   WilsonJ. B.,   KitunduM. N.,   AdekileA. D.,   C.J,   McKieK. M.,   HuismanT. H. J.,  

 

期刊: Hemoglobin  (Taylor Available online 1992)
卷期: Volume 16, issue 4  

页码: 259-266

 

ISSN:0363-0269

 

年代: 1992

 

DOI:10.3109/03630269208998866

 

出版商: Taylor&Francis

 

数据来源: Taylor

 

摘要:

The silent Hb Muscat with a Leu→Val replacement at positionβ32 was discovered by reversed phase high performance liquid chromatography in two members of an Arabian family from Oman; in one person Hb Muscat occurred with Hb S and in the other with Hb A. Hb Muscat is slightly unstable but its presence has no apparent adverse effect on the health of its carriers. Additional hemoglobin abnormalities observed in this family were a common a-thal-assemia-2 (-3.7 kb) and Hb S. TheβS haplotypes in the heterozygous carriers and the two sickle cell anemia patients were #19 (Benin) and #20 (Bantu); the latter likely originated from an East African population.

 

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