Hb S/β°‐Thalassemia due to the ˜1.4‐kb deletion is associated with a relatively mild phenotype | Zendy

Waye John S. | Zendy; Chui David H. K. | Zendy; Eng Barry | Zendy; Cai ShiPing | Zendy; Coleman Mary B. | Zendy; Adams Junius G. | Zendy; Steinberg Martin H. | Zendy

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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.

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