title: Clinical course and molecular characterization of a compound heterozygote for sickle hemoglobin and hemoglobin Kenya.
abstract: We describe a 25-year-old black woman who presented with a long history of anemia requiring transfusions during childhood and adolescence. Molecular analysis revealed her to be a compound heterozygote for the sickle mutation and the approximately 22.7 kb deletion associated with hemoglobin Kenya. This patient's clinical course was more severe than previously reported for the Hb S/Hb Kenya genotype, a probable consequence of concomitant iron deficiency.
authors.affiliation: Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton, Ontario, Canada.
authors.forename: J S
authors.initials: JS
authors.lastname: Waye
authors.forename: S P
authors.initials: SP
authors.lastname: Cai
authors.forename: B
authors.initials: B
authors.lastname: Eng
authors.forename: D H
authors.initials: DH
authors.lastname: Chui
authors.forename: W H
authors.initials: WH
authors.lastname: Francombe
mesh_terms: D000328:Adult; D001483:Base Sequence; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D017353:Gene Deletion; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D000090463:Iron Deficiencies; D008969:Molecular Sequence Data
chemical_list: D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; C040843:hemoglobin Kenya; D005319:Fetal Hemoglobin