| Hb Iowa | beta119(GH2)Gly->Ala |
|---|
| 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. | ||