Hb Galicia | Deletion of His-Val- at beta97, beta98; |
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insertion of Leu- |
HEMATOLOGY | Severe hemolytic anemia; reticulocytosis; Heinz bodies | ||
ELECTROPHORESIS | Hb X moves slightly faster than Hb A2 in IEF | ||
CHROMATOGRAPHY | Hb X can be isolated by DEAE-cellulose chromatography; the betaX chain separates from the other chains by reversed phase HPLC (elution order: betaA, alpha, betaX, Ggamma, Agamma) | ||
STRUCTURE STUDIES | Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Deletion of ACG at codons 97 and 98 causes removal of His and Val; remaining three nts form codon CTG (= Leu) | ||
FUNCTION STUDIES | Not done | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in a Spanish patient | ||
OTHER INFORMATION | Quantity in the heterozygote ~26-27% |
REFERENCES | |||
1. | Wilson, J.B., Webber, B.B., Hu, H., Kutlar, A., Kutlar, F., Codrington, J.F., Prchal, J.T., Hall, K.M., de Pablos, J.Ma., Rodriguez, I., and Huisman, T.H.J.: Blood, 75: 1883, 1990. |