Hb J-Singa | alpha78(EF7)Asn->Asp |
---|
CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | The fast-moving Hb X separates from Hb A at alkaline pH | ||
CHROMATOGRAPHY | Hb X and Hb A were separated by DEAE-cellulose chromatography | ||
STRUCTURE STUDIES | Tryptic peptides were separated by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation AAC->GAC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a French-Acadian family living in Canada | ||
OTHER INFORMATION | Quantity in the heterozygote 25-32% (alpha-thal-2 was not excluded) |
REFERENCES | |||
1. | Wong, S.C., Ali, M.A.M., Pond, J.R., Rubin, S.M., Johnson, S.E.N., Wilson, J.B., and Huisman, T.H.J.: Biochim. Biophys. Acta, 784:187, 1984. |