Identification of Hb Lepore-Washington-Boston in association with Hb E [beta 26(B8)Glu----Lys] in a Thai female.
The proposita was a Thai female showing signs of a mild anemia (Hb: 11.4 g/dl; RBC: 4.91 X 10(6)/mm3; reticulocytes: 2.4%; MCV: 70 fl; MCHC: 23.3 g/dl). Hemoglobins were isolated by DEAE-cellulose chromatography in the following relative amounts: Hb E + Hb A2 = 53%; Hb F0 = 30.0%; Hb delta beta-Lepore = 12.7%; Hb F1 = 4.3%. The beta E and delta beta-Lepore chains were isolated by CM-cellulose chromatography and were subjected to tryptic peptide mapping on paper in comparison to normal beta A chains. Amino acid analysis of selected peptides permitted unambiguous identification of the abnormal hemoglobins as Hb E [beta 26(B8)Glu----Lys] and Hb Lepore-Washington-Boston, which has a delta chain sequence for residues 1-87, and a beta chain sequence for residues 116-146. The presence of a Lepore hemoglobin was further confirmed by Pst I digestion of the proposita's DNA. The association of the two hemoglobin variants gave rise to elevated levels of Hb F.
Boontrakoonpoontawee
P
P
Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok, Thailand.
Svasti
J
J
Fucharoen
S
S
Winichagoon
P
P
D000328:Adult; D005260:Female; D006446:Hemoglobin E / Q000235:genetics / Q000302:isolation & purification*; D006453:Hemoglobinopathies / Q000097:blood* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics / Q000302:isolation & purification*; D006801:Humans; D010375:Pedigree; D010446:Peptide Fragments / Q000302:isolation & purification; D013785:Thailand
D006455:Hemoglobins, Abnormal; D010446:Peptide Fragments; C039800:hemoglobin Lepore Boston-Washington; D006446:Hemoglobin E