RESUMO
We report the first case of Hb Boumerdes, an alpha chain variant alpha 2(37) (C2) Pro----Arg beta 2, in an Algerian family. The propositus was also homozygous for the sickle cell gene. The abnormal hybrid Hb alpha 2Boum. beta 2S had an electrophoretic mobility on cellulose acetate pH 8.7 electrophoresis between those of Hb S and Hb A2. Its expression was about 16%. The alpha 2Boum. beta 2A fraction has a mobility between those of Hb F and Hb S. The effects of this mutation on Hb oxygen affinity and deoxy Hb S polymer formation were not studied. The propositus' sickle cell phenotype was benign.
Assuntos
Anemia Falciforme/genética , Doença da Hemoglobina SC/genética , Hemoglobinas Anormais/análise , Mutação , Adolescente , Adulto , Argélia , Criança , Pré-Escolar , Cromatografia Líquida de Alta Pressão , Feminino , Doença da Hemoglobina SC/sangue , Doença da Hemoglobina SC/etnologia , Homozigoto , Humanos , Focalização Isoelétrica , Masculino , LinhagemRESUMO
Twenty hemolytic accidents due to G6PD deficiency in Algeria are reported: 13 cases of favism, 2 cases of neonatal jaundice, one drug accident (aspirin), 4 of unknown cause. These accidents concern above all children, were clinically severe and required transfusion.