Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

To date, all of the chromosomal deletions that cause α-thalassemia remove the structural α genes and/or their regulatory element (HS -40). A unique deletion occurs in a single family that juxtaposes a region that normally lies approximately 18-kilobase downstream of the human α cluster, next to a structurally normal α-globin gene, and silences its expression. During development, the CpG island associated with the α-globin promoter in the rearranged chromosome becomes densely methylated and insensitive to endonucleases, demonstrating that the normal chromatin structure around the α-globin gene is perturbed by this mutation and that the gene is inactivated by a negative chromosomal position effect. These findings highlight the importance of the chromosomal environment in regulating globin gene expression. (C) 2000 by The American Society of Hematology.

Original publication

DOI

10.1182/blood.v96.3.800.015k11a_800_807

Type

Journal article

Journal

Blood

Publication Date

01/08/2000

Volume

96

Pages

800 - 807