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Clinical course and molecular characterization of a compound heterozygote for sickle hemoglobin and hemoglobin kenya
Author(s) -
Waye John S.,
Chui David H. K.,
Cai ShiPing,
Eng Barry,
Francombe William H.
Publication year - 1992
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830410413
Subject(s) - hemoglobin , heterozygote advantage , hemoglobin a2 , hemoglobin s , hemoglobin variants , compound heterozygosity , medicine , hemoglobinopathy , hemoglobin a , hemolytic anemia , genetics , sickle cell anemia , biology , gene , disease , genotype , mutation
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 ∼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. © 1992 Wiley‐Liss, Inc.