Hb Kurdistan | alpha47(CE5)Asp->Tyr |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A separate at alkaline pH | ||
CHROMATOGRAPHY | Hb X was isolated by anion exchange chromatography | ||
STRUCTURE STUDIES | Tryptic peptides of the alpha chain were separated by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Mutation in the alpha2 gene: GAC->TAC at codon 47 | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Normal | ||
OCCURRENCE | Found in three members of a Kurdish family | ||
OTHER INFORMATION | Quantity in heterozygotes 17-18%; quantity of Hb X in one member who was also heterozygous for betao-thal was a low 4.2%, indicating a decreased affinity of alphaX for beta |
REFERENCES | |||
1. | Giordano, P.C., Harteveld, C.L., Streng, H., Oosterwijk, J.C., Heister, J.G.A.M., Amons, R., and Bernini, L.F.: Hemoglobin, 18:11, 1994. |