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

Blood. 2021 Jan 28;137(4):572-575. doi: 10.1182/blood.2020006680.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Chromatin / genetics
  • Chromatin / ultrastructure
  • Chromosomes, Human, Pair 16 / genetics
  • Chromosomes, Human, Pair 16 / ultrastructure
  • Enhancer Elements, Genetic*
  • Erythroblasts / pathology
  • Erythropoiesis
  • Female
  • Gene Deletion
  • Gene Expression Regulation
  • Genotype
  • Hemoglobin E / genetics
  • Hemoglobin H / analysis
  • Hemoglobin H / genetics*
  • Humans
  • Male
  • Pedigree
  • RNA, Messenger / biosynthesis
  • RNA, Messenger / genetics
  • Sequence Deletion
  • Suriname / ethnology
  • alpha-Globins / biosynthesis
  • alpha-Globins / genetics*
  • alpha-Thalassemia / blood
  • alpha-Thalassemia / genetics*
  • beta-Globins / genetics

Substances

  • Chromatin
  • RNA, Messenger
  • alpha-Globins
  • beta-Globins
  • Hemoglobin E
  • Hemoglobin H