DNA DIAGNOSIS OF HB-S AND HB-CARIBBEAN (ALPHA(2)BETA(91-LEU-]ARG)(2))IN A JAMAICAN FAMILY

We describe a Canadian infant of Jamaican descent who presented with m ild anemia. Hb electrophoresis revealed Hb S and an unknown Hb variant that migrated slightly faster than Hb S on cellulose acetate. Molecul ar studies of the family indicated that the proband is a compound hete rozygote for Hb S and Hb Caribbean. Hb Caribbean has previously been c haracterized 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. (C) 1994 Wiley-Liss, Inc.