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Hb S/β°‐Thalassemia due to the ˜1.4‐kb deletion is associated with a relatively mild phenotype
Author(s) -
Waye John S.,
Chui David H. K.,
Eng Barry,
Cai ShiPing,
Coleman Mary B.,
Adams Junius G.,
Steinberg Martin H.
Publication year - 1991
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.2830380207
Subject(s) - phenotype , thalassemia , hemoglobinopathy , heterozygote advantage , compound heterozygosity , mutation , globin , hemoglobin , hemolytic anemia , microbiology and biotechnology , genetics , intracellular , biology , gene , medicine , genotype , immunology , biochemistry
We report a relatively mild phenotype associated with two siblings who are compound heterozygotes for Hb S and a β°‐thalassemia mutation due to a ˜1.4‐kb deletion of the 5′ region of the β‐globin gene. Each is found to have unusually high levels of Hb A 2 and Hb F, accounting for more than 20% of the total hemoglobin. These may interfere with intracellular Hb 5 polymerization, thus leading to a mild clinical course.