Hb Sun Prairie | alpha130(H13)Ala->Pro |
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CONTACT | Internal | ||
HEMATOLOGY | Hemolytic anemia in the proband | ||
ELECTROPHORESIS | No Hb X was detectable by alkaline electrophoresis and IEF | ||
CHROMATOGRAPHY | Anion and cation exchange failed to detect an abnormal Hb | ||
STRUCTURE STUDIES | The globin chains were separated by reversed phase HPLC; tryptic digestion; reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | A GCT->CCT mutation was observed at codon 130 of the alpha2 gene | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a 4-year-old (adopted) Indian boy (homozygote), and in a 20-year-old Indian male (heterozygote) | ||
OTHER INFORMATION | Quantity in the heterozygote and the homozygote ~10-11% |
REFERENCES | |||
1. | Harkness, M., Harkness, D.R., Kutlar, F., Kutlar, A., Wilson, J.B., Webber, B.B., Codrington, J.F., and Huisman, T.H.J.: Hemoglobin, 14:479, 1990. | ||
2. | Plaseska, D., Gu, L-H., Wilson, J.B., Codrington, J.F., Huisman, T.H.J., and Dash, S.: Hemoglobin, 14:491, 1990. |