Hb Bab-Saadoun or alpha 2 beta (2)48(CD7)Leu----Pro, a mildly unstable variant found in an Arabian boy from Tunisia.
Hb Bab-Saadoun which has a Leu----Pro substitution at position 48 of the beta chain was detected in a young Arabian boy living in Tunisia. His parents did not have the variant which suggests that it occurred as a spontaneous mutation. The substitution is located in the interhelical CD segment; leucine at beta 48 is an invariable amino acid that may be important as part of a spacer sequence between the two helices and its replacement by proline may affect the stability of the hemoglobin molecule. Hb Bab-Saadoun is unstable in heat and isopropanol stability tests and its chain was best isolated by parachloromercuribenzoate precipitation. It appears unlikely that the presence of Hb Bab-Saadoun results in a hemolytic anemia.
Molchanova
T P
TP
Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
Wilson
J B
JB
Gu
L H
LH
Guemira
F
F
Fattoum
S
S
Huisman
T H
TH
D000293:Adolescent; D000328:Adult; D002648:Child; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000302:isolation & purification; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011489:Protein Denaturation; D012805:Sickle Cell Trait / Q000235:genetics; D013789:Thalassemia / Q000235:genetics; D014416:Tunisia
D006455:Hemoglobins, Abnormal; C076577:hemoglobin Bab-Saadoun; D005914:Globins