MUTATION | T->A at codon 14; TGG->AGG on an alpha-thal-2 chromosome [-alpha(Ev)] | ||
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AMINO ACID REPLACEMENT | Trp->Arg (Hb Evanston) | ||
TYPE OF ALPHA-THAL | alpha-Thal-1 [-alpha(T)/alphaalpha] | ||
MECHANISM | The rapid disappearance of Hb Evanston results in an alpha-thal-1 phenotype | ||
IDENTIFICATION | Hb analyses; DNA hybridization; gene mapping | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Hb 14.1-13.2 g/dl; MCV 71-77 fl; trace of Hb Evanston; no Hb H | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not observed | ||
OCCURRENCE | In two unrelated (?) Black families | ||
HAPLOTYPE | Not determined | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | The probands have the phenotype of mild Hb H disease and the genotype -alpha/-alpha(Ev): Hb 9.7, 10.1 g/dl; MCV 60, 61 fl; Hb Evanston 7.4, 9.8%; trace of Hb H and Hb Bart's | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | Not reported | ||
OTHER INFORMATION | The abnormal Hb can be isolated; has a normal stability, high oxygen affinity, but is rapidly catabolized |
REFERENCES | |||
1. | Honig, G.R., Shamsuddin, M., Vida, L.N., Mompoint, M., Valcourt, E., Bowie, L.J., Jones, E.C., Powers, P.A., Spritz, R.A., Guis, M., Embury, S.H., Conboy, J., Kan, Y.W., Mentzer, W.C., Weil, S.C., Hirata, R.K., Waloch, J., O'Riordan, J.F., and Goldstick, T.K.: J. Clin. Invest., 73:1740, 1984. |