Hb Nigeria | alpha81(F2)Ser->Cys |
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CONTACT | External | ||
HEMATOLOGY | Unknown for a heterozygote; the subject with the variant had microcytosis, hypochromia, and a low level of Hb S (29%) | ||
ELECTROPHORESIS | The variants (alpha2Xbeta2 and alpha2Xbeta2S) move slightly faster than Hb A and Hb S at alkaline pH | ||
CHROMATOGRAPHY | Partial separation of the two major variants (alpha2Xbeta2 and alpha2Xbeta2S) from Hb A and Hb S on a DEAE-cellulose column | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by column chromatography; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation TCC->TGC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Normal oxygen affinity, Bohr effect, and cooperativity | ||
STABILITY | Normal | ||
OCCURRENCE | Observed in a Nigerian female with a compound heterozygosity for Hb S and Hb Nigeria, and an alpha-thal-2 homozygosity | ||
OTHER INFORMATION | The quantity of the alphaX containing Hb in this female was estimated between 40 and 48% |
REFERENCES | |||
1. | Honig, G.R., Shamsuddin, M., Tremaine, L.M., Mason, R.G., Vida, L.N., Sarnwick, R., and Shahidi, N.T.: Blood, 52:113a (Suppl. 1), 1978. | ||
2. | Honig, G.R., Shamsuddin, M., Mason, R.G., Vida, L.N., Tremaine, L.M., Tarr, G.E., and Shahidi, N.T.: Blood, 55:131, 1980. |