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

M. Ramachandran Laboratory of Protein Chemistry Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA

L-H. Gu Laboratory of Protein Chemistry Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA

J. B. Wilson Laboratory of Protein Chemistry Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA

M. N. Kitundu Laboratory of Protein Chemistry Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA

A. D. Adekile Laboratory of Protein Chemistry Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA

J-C. Liu Laboratory of Protein Chemistry Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA

K. M. McKie Department of Pediatrics, Medical College of Georgia, Augusta, GA, 30912-3730, USA

T. H. J. Huisman Laboratory of Protein Chemistry Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA

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Abstract

The silent Hb Muscat with a Leu→Val replacement at position β32 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. The βS 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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A new Variant, Hb Muscat [α₂β₂32(B14)Leu→val] Observed in Association With Hb S in an Arabian Family

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

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