Hb J-Lens | beta13(A10)Ala->Asp |
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CONTACT | External | ||
HEMATOLOGY | Probably normal in the heterozygote | ||
ELECTROPHORESIS | Hb X moves to the position of Hb J on cellulose acetate at alkaline pH | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; Edman degradation | ||
DNA ANALYSES | Not reported; presumed mutation GCC->GAC at codon 13 | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a 2-year-old French child; no report of a family study | ||
OTHER INFORMATION | Quantity in the heterozygote ±50% |
REFERENCES | |||
1. | Djoumessi, S., Rousseaux, J., and Dautrevaux, M.: FEBS Lett., 136:145, 1981. |