Hb Suan-Dok | alpha109(G16)Leu->Arg |
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CONTACT | Internal | ||
HEMATOLOGY | Mild alpha-thal with microcytosis and hypochromia in the heterozygote | ||
ELECTROPHORESIS | Hb X moves slower than Hb F at alkaline pH and by IEF | ||
CHROMATOGRAPHY | Hb X was isolated on a DEAE-Sephadex column | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | ||
DNA ANALYSES | A CTG->CGG mutation at codon 109 of the alpha2 gene (Ref. 2) | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a Thai female | ||
OTHER INFORMATION | Quantity in the heterozygote 8.8%; found in combination with alpha-thal-1 to give Hb H disease |
REFERENCES | |||
1. | Sanguansermsri, T., Matragoon, S., Changloah, L., and Flatz, G.: Hemoglobin, 2:161, 1979. | ||
2. | Hundrieser, J., Sanguansermsri, T., Laig, M., Pape, M., Kuhnau, W., and Flatz, G.: Hemoglobin, 14:69, 1990. |