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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