Clinical course and molecular characterization of a compound heterozygote for sickle hemoglobin and hemoglobin kenya | Zendy

Waye John S. | Zendy; Chui David H. K. | Zendy; Cai ShiPing | Zendy; Eng Barry | Zendy; Francombe William H. | Zendy

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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.

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