Hb Ocho Rios | beta52(D3)Asp->Ala |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote; a few target cells | ||
ELECTROPHORESIS | Hb X and Hb A can be separated at alkaline and acidic pH; Hb X moves like Hb S | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; chymotryptic digestion | ||
DNA ANALYSES | Not reported; presumed mutation GAT->GCT at codon 52 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in a Black Jamaican male | ||
OTHER INFORMATION | Found in association with Hb S |
REFERENCES | |||
1. | Beresford, C.H., Clegg, J.B., and Weatherall, D.J.: J. Med. Genet., 9:151, 1972. |