beta-globin gene cluster
A group of genes on chromosome 11 that encode the beta-globin chains of hemoglobin. Mutations in this cluster cause beta-thalassemia and sickle cell disease.
Full Definition
The beta-globin gene cluster on chromosome 11 contains five functional genes that encode different beta-like globin chains expressed at various developmental stages. These include epsilon-globin (embryonic), gamma-globin (fetal), and beta-globin (adult). Mutations or deletions in this cluster are responsible for beta-thalassemia syndromes and sickle cell disease. The cluster's regulation is complex and involves multiple enhancer and silencer elements that control the timing and level of gene expression during development.
Usage
Usage note: Distinguish from alpha-globin gene cluster which is located on chromosome 16.
In Context
- "Genetic counseling discussed the inheritance pattern of mutations in the beta-globin gene cluster." — genetic counseling report
- "Molecular analysis revealed a large deletion encompassing the entire beta-globin gene cluster." — laboratory report