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CONTACT | |
Heme contact | |
HEMATOLOGY | |
Heinz body hemolytic anemia | |
ELECTROPHORESIS | |
Separation of Hb X and Hb A is most difficult; Hb X moves with Hb A on paper (pH 8.9) and on starch gel at alkaline pH; data obtained by IEF are not available | |
CHROMATOGRAPHY | |
Data obtained by HPLC procedures are not available | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting, amino acid analysis; sequencing of a selected peptide | |
DNA ANALYSES | |
Not reported; presumed mutation TTC->GTC; alpha2 or alpha1 | |
FUNCTIONAL STUDIES | |
No data for the isolated Hb X | |
STABILITY | |
Unstable | |
OCCURRENCE | |
Found in a few Italian families | |
OTHER INFORMATION | |
Quantity in heterozygotes difficult to determine; it is estimated at ~10%; anemia is drug induced | |
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REFERENCES |
1. | |
Beretta, A., Prato, V., Gallo, E., and Lehmann, H.: Nature, 217:1016, 1968. | |
2. | |
Prato, V., Gallo, E., Ricco, G., Mazza, U., Bianco, G., and Lehmann, H.: Br. J. Haematol., 19:105, 1970. | |
3. | |
Sansone, G., Sciarratta, G.V., Lang, A., Lorkin, P.A., and Lehmann, H.: Acta Haematol., 56:225, 1976. | |