Hb Adana | alpha59(E8)Gly->Asp |
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CONTACT | Internal | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X can be separated from Hb A by IEF; Hb X focuses ahead of Hb A | ||
CHROMATOGRAPHY | Hb X can be separated from Hb A by cation exchange HPLC | ||
STRUCTURE STUDIES | See DNA analyses | ||
DNA ANALYSES | Sequencing of amplified DNA which included the alpha-globin genes identified the variant; a GGC->GAC mutation was observed at codon 59 of the alpha1 gene | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Severely unstable | ||
OCCURRENCE | Found in a Turkish family | ||
OTHER INFORMATION | This variant occurred in three children in combination with the -(alpha)20.5 kb alpha-thal-1 deletion; all three had Hb H disease; the quantity of Hb Adana in heterozygotes could not be determined |
REFERENCES | |||
1. | Altay, C., Say, B., Yetgin, S., and Huisman, T.H.J.: Am. J. Hematol., 2:1, 1977. | ||
2. | Çürük, M.A., Dimovski, A.J., Baysal, E., Gu, L-H., Kutlar, F., Molchanova, T.P., Webber, B.B., Altay, Ç., Gürgey, A., and Huisman, T.H.J.: Am. J. Hematol., 44:270, 1993. |