title: DNA diagnosis of Hb S and Hb Caribbean (alpha 2 beta 2 91 Leu-->Arg) in a Jamaican family.
abstract: We describe a Canadian infant of Jamaican descent who presented with mild anemia. Hb electrophoresis revealed Hb S and an unknown Hb variant that migrated slightly faster than Hb S on cellulose acetate. Molecular studies of the family indicated that the proband is a compound heterozygote for Hb S and Hb Caribbean. Hb Caribbean has previously been characterized as a mildly unstable hemoglobin with low oxygen affinity, due to a Leu-->Arg substitution at amino acid residue 91. The present study establishes the molecular basis for Hb Caribbean (beta 91, CTG-->CGG) and confirms that Hb S/Hb Caribbean syndrome is not associated with serious clinical manifestations.
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: M
authors.initials: M
authors.lastname: Patterson
authors.forename: B
authors.initials: B
authors.lastname: Eng
authors.forename: D H
authors.initials: DH
authors.lastname: Chui
authors.forename: G D
authors.initials: GD
authors.lastname: Sher
authors.forename: N F
authors.initials: NF
authors.lastname: Olivieri
mesh_terms: D000328:Adult; D001483:Base Sequence; D004247:DNA / Q000032:analysis*; D005260:Female; D014644:Genetic Variation; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007563:Jamaica; D008297:Male; D008969:Molecular Sequence Data
chemical_list: D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; C036394:hemoglobin Caribbean; D004247:DNA