The molecular basis of α-thalassemia: a model for understanding human molecular genetics.

Journal article

Down-regulation of α-globin synthesis causes α-thalassemia with underproduction of fetal (HbF, α(2)γ(2)) and adult (HbA, α(2)β(2)) hemoglobin. This article focuses on the human α-globin cluster, which has been characterized in great depth over the past 30 years. In particular the authors describe how the α genes are normally switched on during erythropoiesis and switched off as hematopoietic stem cells commit to nonerythroid lineages. In addition, the principles by which α-globin expression may be perturbed by natural mutations that cause α-thalassemia are reviewed.

Authors: Higgs, D; Gibbons, R

• Publication status: Published
• Journal: Hematology/oncology clinics of North America
• Volume: 24
• Issue: 6
• Pages: 1033-1054
• Publication date: 2010-12-01
• DOI: 10.1016/j.hoc.2010.08.005
• EISSN: 1558-1977
• ISSN: 0889-8588
• Language: English
• Keywords: Fetal Hemoglobin; Multigene Family; alpha-Globins; Humans; Erythropoiesis; Hemoglobin A; Mutation; Models, Genetic; alpha-Thalassemia