Hb S-Providence | beta6(A3)Glu->Val; |
---|---|
beta82(EF6)Lys->Asn->Asp |
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A do not separate by routine electrophoresis at either alkaline or acidic pH | ||
CHROMATOGRAPHY | Not reported; the betaX and betaA chains separate by CM-cellulose chromatog-raphy | ||
STRUCTURE STUDIES | tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutations GAG->GTG and AAG->AAT or AAC at codons 6 and 82 | ||
FUNCTION STUDIES | Sickling test is positive; increased oxygen affinity | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a West African female | ||
OTHER INFORMATION | The beta82 position is part of the 2,3-DPG binding site; the beta82 Lys->Asn replacement is characteristic for Hb Providence; both Hb Providence and Hb S-Providence have a tendency to become deamidated |
REFERENCES | |||
1. | Gale, R.E., Blair, N.E., Huehns, E.R., and Clegg, J.B.: Br. J. Haematol., 70:251, 1988. |