Hb Evans | alpha62(E11)Val->Met |
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CONTACT | Internal; heme contact | ||
HEMATOLOGY | Mild hemolytic anemia in the heterozygote | ||
ELECTROPHORESIS | All electrophoretic methods used failed to detect an abnormal Hb | ||
CHROMATOGRAPHY | Anion, cation exchange, and reversed phase HPLC failed to indicate the presence of an abnormal Hb | ||
STRUCTURE STUDIES | Tryptic peptides of a mixture of alphaA+alphaX were separated by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Mutation in the alpha2 gene: GTG->ATG at codon 62 | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Unstable | ||
OCCURRENCE | Found as a de novo mutation in a Caucasian female and her daughter | ||
OTHER INFORMATION | Quantity in heterozygotes could not be determined with certainty; ~10% by heat denaturation |
REFERENCES | |||
1. | Wilson, J.B., Webber, B.B., Kutlar, A., Reese, A.L., McKie, V.C., Lutcher, C.L., Felice, A.E., and Huisman, T.H.J.: Hemoglobin 13:557, 1989. |