Hb Lepore-Hollandia | deltabeta hybrid (delta through 22; beta from 50) |
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HEMATOLOGY | Mild anemia with microcytosis and hypochromia in the heterozygote (beta+-thal) | ||
ELECTROPHORESIS | Hb X moves slower than Hb A at alkaline pH | ||
CHROMATOGRAPHY | Hb X and Hb A can be separated by CM-cellulose or DEAE-Sephadex chromatography | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing | ||
DNA ANALYSES | A large deletion was observed by gene mapping | ||
FUNCTION STUDIES | Increased oxygen affinity; normal Bohr effect and cooperativity | ||
STABILITY | Stable | ||
OCCURRENCE | Found in several Papuan families | ||
OTHER INFORMATION | Quantity in the heterozygote 12%; in the homozygote 26% |
REFERENCES | |||
1. | Barnabas, J. and Muller, C.J.: Nature, 194:931, 1962. | ||
2. | Curtain, C.C.: Austrl. J. Exper. Biol. Med. Sci., 42:89, 1964. | ||
3. | McDonald, M.J., Noble, R.W., Sharma, V.S., Ranney, H.M., Crookston, J.H., and Schwartz, J.M.: J. Mol. Biol., 94:305, 1975. |