Hb Luton | alpha89(FG1)His->Leu |
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CONTACT | External | ||
HEMATOLOGY | Erythrocytosis and microcytosis in the heterozygote, who is also heterozygous for the alpha-thal-2 4.2 kb deletion | ||
ELECTROPHORESIS | Two abnormal bands were detected by IEF; Hb X did not separate from Hb A on cellulose acetate (pH 8.6) but resolved as a band cathodal to Hb A on agar gel | ||
CHROMATOGRAPHY | Not reported | ||
STRUCTURE STUDIES | The alphaX and alphaA chains were separated by reversed phase HPLC; tryptic peptides of the alphaX chain were separated by reversed phase HPLC; amino acid analysis; sequencing | ||
DNA ANALYSES | Not reported; presumed mutation CAC->CTC; alpha2 or alpha1 | ||
FUNCTIONAL STUDIES | Increased oxygen affinity | ||
STABILITY | Normal | ||
OCCURRENCE | Found in members of a Pakistani family | ||
OTHER INFORMATION | The quantity of Hb X was about ~33% in the heterozygote with an alpha-thal-2 trait |
REFERENCES | |||
1. | Williamson, D., Langdown, J.V., Myles, T., Mason, C., Henthorn, J.S., and Davies, S.C.: Br. J. Haematol., 82:621, 1992. |