A remarkable case of HbH disease illustrates the relative contributions of the α-globin enhancers to gene expression.

Badat M., Davies JOJ., Fisher CA., Downes DJ., Rose A., Glenthøj AB., van Beers EJ., Harteveld CL., Higgs DR.

DOI

10.1182/blood.2020006680

Type

Journal article

Journal

Blood

Publication Date

28/01/2021

Volume

137

Pages

572 - 575

Keywords

Adult, Alleles, Chromatin, Chromosomes, Human, Pair 16, Enhancer Elements, Genetic, Erythroblasts, Erythropoiesis, Female, Gene Deletion, Gene Expression Regulation, Genotype, Hemoglobin E, Hemoglobin H, Humans, Male, Pedigree, RNA, Messenger, Sequence Deletion, Suriname, alpha-Globins, alpha-Thalassemia, beta-Globins

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