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CONTACT | |
External | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X and Hb A separate at alkaline and acidic pH; Hb X moves to the position of Hb S on paper, starch gel, and cellulose acetate; moves between Hb A and Hb S, as a sharp band closer to Hb A on citrate agar | |
CHROMATOGRAPHY | |
Hb X can be isolated by DEAE-Sephadex chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting and cation exchange chromatography; amino acid analysis; sequencing | |
DNA ANALYSES | |
Mutation in the alpha1 gene: GAC->CAC at codon 64 (Ref. 3) | |
FUNCTIONAL STUDIES | |
Normal | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in three Hindu families and in a Canadian family of mixed French and Iranian ancestry | |
OTHER INFORMATION | |
Quantity in heterozygotes ~17%; found in combination with beta-thal | |
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REFERENCES |
1. | |
Sukumaran, P.K., Merchant, S.M., Desai, M.P., Wiltshire, B.G., and Lehmann, H.: J. Med. Genet., 9:436, 1972. | |
2. | |
Schmidt, R.M., Ali, M.A.M., Bechtel, K.C., and Moo-Penn, W.F.: Am. J. Clin. Pathol., 66:446, 1976. | |
3. | |
Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994. | |