Hb Birmingham | Deletion of Leu-Ala-His-Lys- at beta141, |
---|---|
beta142, beta143, beta144; insertion of Gln- |
HEMATOLOGY | Hemolytic anemia; reticulocytosis; Heinz bodies | ||
ELECTROPHORESIS | Hb X moves about like Hb S in cellulose acetate electrophoresis at alkaline pH | ||
CHROMATOGRAPHY | The betaX chain elutes in two minor zones faster than the betaA chain (reversed phase HPLC) | ||
STRUCTURE STUDIES | Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Deletion of TG*GCC*CAC*A from codons 141 through 144 removes four amino acid residues (Leu, Ala, His, Lys); the remaining triplet CAG codes for glutamine | ||
FUNCTION STUDIES | Not done | ||
STABILITY | Unstable | ||
OCCURRENCE | Found in an adult Black male | ||
OTHER INFORMATION | Quantity in the heterozygote ~20% |
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. |