Hb Necker Enfants-Malades | alpha20(B1)His->Tyr |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X moves with Hb A on cellulose acetate and citrate agar; separation is best by IEF (pI 6.84; Hb A pI 6.95) | ||
CHROMATOGRAPHY | The variant was isolated on a Bio-Rex 70 column | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation CAC->TAC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Normal | ||
STABILITY | Not reported | ||
OCCURRENCE | Found in a family from the French West Indies (Guadeloupe) | ||
OTHER INFORMATION | Quantity in the heterozygote 30% |
REFERENCES | |||
1. | Wajcman, H., Elion, J., Boissel, J.P., Labie, D., Jos, J., and Girot, R.: Hemoglobin, 4:177, 1980. |