Hb Monroe | beta30(B12)Arg->Thr |
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ALSO KNOWN AS | Kairouan | ||
CONTACT | alpha1beta1 contact | ||
HEMATOLOGY | Mild anemia with microcytosis and hypochromia in the heterozygote | ||
ELECTROPHORESIS | Hb X has not been found except in a minor Hb zone isolated by CM-cellulose chromatography | ||
CHROMATOGRAPHY | None reported | ||
STRUCTURE STUDIES | Not reported | ||
DNA ANALYSES | An AGG->ACG mutation at codon 30; codon 30 (AGG) is divided by intron 1 as follows: ---CTT*AG<-IVS-I->G*CTG*CTG---. It is the last nt G of exon 1 that is changed to C | ||
FUNCTION STUDIES | Not reported | ||
STABILITY | Most unstable | ||
OCCURRENCE | Found in a Black family and a North African woman born to a Libyan father and a Tunisian mother | ||
OTHER INFORMATION | Found in a Black girl in combination with the promoter mutation A->G at position -29; this patient was transfusion dependent |
REFERENCES | |||
1. | Gonzalez-Redondo, J.M., Stoming, T.A., Kutlar, F., Kutlar, A., Hu, H., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 13:67, 1989. | ||
2. | Vidaud, M., Gattoni, R., Stevenin, J., Vidaud, D., Amselem, S., Chibani, J., Rosa, J., and Goossens, M.: Proc. Natl. Acad. Sci. USA, 86:1041, 1989. |