Hb Ferndown | alpha6(A4)Asp->Val |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X moves between Hb A and Hb S but very close to Hb A at alkaline pH (8.9); it separates from Hb A on citrate agar at acidic pH | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation GAC->GTC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Increased oxygen affinity; Bohr and cooperativity effects normal | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a 40-year-old British woman | ||
OTHER INFORMATION | Quantity in the heterozygote 8% |
REFERENCES | |||
1. | Lee-Potter, J.P., Deacon-Smith, R.A., Lehmann, H., and Robb, L.: FEBS Lett., 126:117, 1981. |