Hb Inkster | alpha85(F6)Asp->Val |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X moves to the position of Hb S on cellulose acetate at alkaline pH but like Hb A on citrate agar at acidic pH | ||
CHROMATOGRAPHY | Isolated on a DEAE-Sephadex or DEAE-cellulose column; good separation by cation exchange HPLC | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; cation exchange chromatography; amino acid analysis | ||
DNA ANALYSES | A GAC->GTC mutation at codon 85 in the alpha2 gene (Ref. 2) | ||
FUNCTIONAL STUDIES | Increased oxygen affinity | ||
STABILITY | Stable | ||
OCCURRENCE | Found in an English-German family and in some Black families | ||
OTHER INFORMATION | Quantity in the heterozygote 21-23%; found in association with beta-thal |
REFERENCES | |||
1. | Reed, R.E., Winter, W.P., and Rucknagel, D.L.: Br. J. Haematol., 26:475, 1974. | ||
2. | Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J., Br. J. Haematol., 88:300, 1994. |