DNA diagnosis of Hb S and Hb Caribbean (alpha 2 beta 2 91 Leu-->Arg) in a Jamaican family.
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.
Waye
J S
JS
Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton, Ontario, Canada.
Patterson
M
M
Eng
B
B
Chui
D H
DH
Sher
G D
GD
Olivieri
N F
NF
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
D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; C036394:hemoglobin Caribbean; D004247:DNA