Hb Tak | beta147 (+AC); abnormal C-terminal sequence: |
---|---|
(147)THR-Lys-Leu-Ala-Phe-Leu-Leu- | |
Ser-Asn-Phe-(157)Tyr-COOH |
HEMATOLOGY | Nearly normal in the heterozygote | ||
ELECTROPHORESIS | Hb X moves to the position of Hb G at alkaline pH; at acidic pH Hb X moves as Hb S | ||
CHROMATOGRAPHY | Hb X was isolated on a DEAE-Sephadex column | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed frameshift at terminating codon beta147 (+AC) | ||
FUNCTION STUDIES | Increased oxygen affinity; decreased Bohr effect and cooperativity | ||
STABILITY | Heat stable but mildly unstable with the isopropanol test | ||
OCCURRENCE | Found in a few Thai families | ||
OTHER INFORMATION | Quantity in the heterozygote 35-40%; found in association with beta-thal |
REFERENCES | |||
1. | Flatz, G., Kinderlerer, J.L., Kilmartin, J.V., and Lehmann, H.: The Lancet, i:732, 1971. | ||
2. | Imai, K. and Lehmann, H.: Biochim. Biophys. Acta, 412:288, 1975. | ||
3. | Lehmann, H., Casey, R., Lang, A., Stathopoulou, R., Imai, K., Tuchinda, S., Vinai, P., and Flatz, G.: Br. J. Haematol., 31:119 (Suppl.), 1975. |