A new variant, HB Muscat [alpha 2 beta (2)32(B14)Leu----Val] observed in association with HB S in an Arabian family.
The silent Hb Muscat with a Leu----Val replacement at position beta 32 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 alpha-thalassemia-2 (-3.7 kb) and Hb S. The beta S 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.
Ramachandran
M
M
Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
Gu
L H
LH
Wilson
J B
JB
Kitundu
M N
MN
Adekile
A D
AD
Liu
J C
JC
McKie
K M
KM
Huisman
T H
TH
D000293:Adolescent; D000328:Adult; D000351:Africa, Eastern; D000595:Amino Acid Sequence; D000755:Anemia, Sickle Cell / Q000235:genetics; D002648:Child; D002851:Chromatography, High Pressure Liquid; D005260:Female; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000302:isolation & purification; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009850:Oman; D012805:Sickle Cell Trait / Q000235:genetics; D013789:Thalassemia / Q000235:genetics
D006455:Hemoglobins, Abnormal; C076576:hemoglobin Muscat; D005914:Globins