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ALSO KNOWN AS | |
Buginese-X; Oliviere | |
CONTACT | |
External | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X moves slightly slower than Hb S at alkaline pH; Hb X moves as a sharp band close to but between Hb A and Hb S on citrate agar at acidic pH; excellent separation by IEF | |
CHROMATOGRAPHY | |
Hb X was isolated by cation and anion exchange HPLC | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | |
DNA ANALYSES | |
A GAG->AAG mutation at codon 116 of the alpha1 gene (Ref. 3) | |
FUNCTIONAL STUDIES | |
Not reported | |
STABILITY | |
Slightly less stable than Hb A | |
OCCURRENCE | |
Found in Buginese from Sulawesi (formerly Celebes), Makassars, Iranian, South African, Italian, and Chinese families | |
OTHER INFORMATION | |
Quantity in heterozygotes 21%; found in association with Hb D-Punjab and with beta-thal | |
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REFERENCES |
1. | |
Lie-Injo, L.E.: The Lancet, ii:1338, 1957. | |
2. | |
Baglioni, C. and Lehmann, H.: Nature, 196:229, 1962. | |
3. | |
Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994. | |