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ALSO KNOWN AS | |
I-Philadelphia; I-Texas; I-Burlington; I-Skamania | |
CONTACT | |
External | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X moves ahead of Hb A at alkaline pH and with Hb A at acidic pH (citrate agar) | |
CHROMATOGRAPHY | |
Hb X can be separated from Hb A by cation and anion exchange chromatography | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | |
DNA ANALYSES | |
Mutation in the alpha2 gene: AAG->GAG at codon 16 | |
FUNCTIONAL STUDIES | |
Normal | |
STABILITY | |
Normal | |
OCCURRENCE | |
Found in Blacks, Indians, and Caucasian families | |
OTHER INFORMATION | |
Quantity in heterozygotes 24-28% | |
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REFERENCES |
1. | |
Beale, D. and Lehmann, H.: Nature, 207:259, 1965. | |
2. | |
Folayan Esan, G.J., Morgan, F.J., O'Donnell, J.V., Ford, S., and Bank, A.: J. Clin. Invest., 49:2218, 1970. | |
3. | |
Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994. | |