Clinical course and molecular characterization of a compound heterozygote for sickle hemoglobin and hemoglobin Kenya.
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.
Waye
J S
JS
Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton, Ontario, Canada.
Cai
S P
SP
Eng
B
B
Chui
D H
DH
Francombe
W H
WH
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
D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; C040843:hemoglobin Kenya; D005319:Fetal Hemoglobin