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

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abstract

AbstractWe 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 A2 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.

authors

Waye, John
Chui, David Hing-kwei
Eng, Barry
Cai, Shi‐Ping
Coleman, Mary B
Adams, Junius G
Steinberg, Martin H

status

published

publication date

October 1991

has subject area

1102 Cardiorespiratory Medicine and Haematology (FoR)
Adult (MeSH)
Base Sequence (MeSH)
Chromosome Deletion (MeSH)
Chromosome Mapping (MeSH)
Female (MeSH)
Fetal Hemoglobin (MeSH)
Globins (MeSH)
Hemoglobin A (MeSH)
Hemoglobin, Sickle (MeSH)
Heterozygote (MeSH)
Humans (MeSH)
Immunoblotting (MeSH)
Immunology (Science Metrix)
Molecular Sequence Data (MeSH)
Mutation (MeSH)
Phenotype (MeSH)
Polymerase Chain Reaction (MeSH)
Thalassemia (MeSH)

published in

American Journal of Hematology Journal