Hb Iowa | beta119(GH2)Gly->Ala |
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CONTACT | External; alpha1beta1 contact | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate by IEF; Hb X has the position near Hb F | ||
CHROMATOGRAPHY | No separation of Hb X and Hb A by cation exchange HPLC; the betaX and betaA chains separate by reversed phase HPLC (elution order: betaA, betaX, alpha) | ||
STRUCTURE STUDIES | Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis | ||
DNA ANALYSES | Not reported; presumed mutation GGC->GCC at codon 119 | ||
FUNCTION STUDIES | Normal | ||
STABILITY | Normal | ||
OCCURRENCE | Found in a 9-month-old infant and her mother | ||
OTHER INFORMATION | The proband was also heterozygous for Hb S |
REFERENCES | |||
1. | Plaseska, D., de Alarcon, P.A., McMillan, S., Walbrecht, M., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 14:432, 1990. |