Hb Gouda | alpha72(EF1)His->Gln |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | No separation by standard techniques; Hb X focuses ahead of Hb A in IEF | ||
CHROMATOGRAPHY | Partial separation of Hb X and Hb A by cation exchange HPLC | ||
STRUCTURE STUDIES | Tryptic digestion of alphaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | A CAC->CAA mutation at codon 72 of the alpha2 gene | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a 54-year-old Dutch female and her four children | ||
OTHER INFORMATION | Quantity in the heterozygote not listed |
REFERENCES | |||
1. | Giordano, P.C., Harteveld, C.L., Kok, P.J.M.J., Geenen, A., Batelaan, D., Amons, R., and Bernini, L.F.: Hemoglobin, 20:21, 1996. |