Hb Natal | alpha140(HC2)-alpha141(HC3) Tyr-Arg->0 |
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HEMATOLOGY | Modest erythrocytosis (PCV 0.55-0.56 l/l) | ||
ELECTROPHORESIS | Hb X moves faster than Hb A at alkaline pH and in IEF | ||
CHROMATOGRAPHY | Hb X elutes ahead of Hb A from a cation exchange HPLC column | ||
STRUCTURE STUDIES | Tryptic digestion of alphaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; acid hydrolysis | ||
DNA ANALYSES | A TAC->TAA mutation at codon 140 of the alpha2 gene | ||
FUNCTION STUDIES | Increased oxygen affinity; no Bohr effect; no heme-heme interaction | ||
STABILITY | Normal | ||
OCCURRENCE | Found in an Asian Indian and his father | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Jogessar, V.B., Westermeyer, K., Webber, B.B., Wilson, J.B., Hu, H., Gonzalez-Redondo, J.M., Kutlar, A., and Huisman, T.H.J.: Biochim. Biophys. Acta, 951:36, 1988. |