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CONTACT | |
External | |
HEMATOLOGY | |
Normal in the heterozygote | |
ELECTROPHORESIS | |
Hb X moves faster than Hb A at alkaline pH; Hb X does not separate from Hb A at acidic pH | |
CHROMATOGRAPHY | |
Not reported | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | |
DNA ANALYSES | |
Not reported; presumed mutation GCC->GAC; alpha2 or alpha1 | |
FUNCTIONAL STUDIES | |
Normal oxygen affinity, Bohr effect, and cooperativity | |
STABILITY | |
Probably normal | |
OCCURRENCE | |
Found in Italian and Brazilian families | |
OTHER INFORMATION | |
Quantity in heterozygotes 20-30%; found in combination with beta-thal | |
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REFERENCES |
1. | |
Alberti, R., Mariuzzi, G.M., Artibani, L., Bruni, E., and Tentori, L.: Biochim. Biophys. Acta, 342:1-1974. | |
2. | |
Moo-Penn, W.F., Jue, D.L., and Baine, R.M.: Hemoglobin, 2:443, 1978. | |
3. | |
Targino de Araujo, J., Plowman, D., Targino de Araujo, R.A., de Souza, L.F., and Lehmann, H.: Rev. Bras. Pesq. Med. Biol., 13:37, 1980. | |