Hb Agrinio | alpha29(B10)Leu->Pro |
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CONTACT | Internal | ||
HEMATOLOGY | Microcytosis and hypochromia in the heterozygote | ||
ELECTROPHORESIS | Hb X is not detectable | ||
CHROMATOGRAPHY | Hb X is not detectable | ||
STRUCTURE STUDIES | Not possible | ||
DNA ANALYSES | Hb X was identified by sequencing of amplified DNA; a CTG->CCG mutation at codon 29 of the alpha2 gene | ||
FUNCTIONAL STUDIES | Not possible | ||
STABILITY | Unstable because of the introduction of a proline residue in the middle of the B helix | ||
OCCURRENCE | Found in three Greek Cypriots | ||
OTHER INFORMATION | The patients had atypical Hb H disease, severe anemia, hypochromia, and microcytosis |
REFERENCES | |||
1. | Hall, G.W., Thein, S.L., Newland, A.C., Chisholm, M., Traeger-Synodinos, J., Kanavakis, E., Kattamis, C., and Higgs, D.R.: Br. J. Haematol., 85:546, 1993. |