Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 12, 1988 - Issue 5-6
26
Views
12
CrossRef citations to date
0
Altmetric
Original Article

Overview of the β Thalassemias: Genetic and Clinical Aspects

, &
Pages 551-564 | Received 13 Apr 1988, Accepted 01 Jun 1988, Published online: 07 Jul 2009
 

Abstract

There has been much progress in basic studies of the β-thalassemia disorders in recent years, as well as in the practical aspects of prenatal diagnosis and clinical management. Alterations in a single or a few nucleotides account for most of the types of β-thalassemia syndromes that have been characterized, and a variety of deletions have been found associated with βO thalassemia, δβ thalassemia, γδβ thalassemia, and hereditary persistence of fetal hemoglobin (HPFH). Studies of nondeletional types of HPFH have revealed several single base changes 5′ to the Gγ and Aγ genes, suggesting that these regions may be of major importance in the switchover from fetal to adult hemoglobin synthesis and in the relative production of the Gγ and Aγ globin chains during development. Evaluation of restriction enzyme polymorphisms and the assignment of haplotypes in the β-like globin region of chromosome 11 have allowed delineation of the origin and distribution of thalassemia mutations, and have provided an important means for prenatal diagnosis. These studies have accumulated much new information about the function and expression of eukaryotic genes, and have served as a model for the investigation of human genetic disorders.

The clinical management of patients with Cooley's anemia has benefited greatly from changes in transfusion practice, clear guidelines for splenectomy, and the availability of effective chelation therapy for iron overload. Current basic and clinical studies may lead to new approaches to management, treatment and eventual cures for this disease, including safe bone marrow transplantation, oral chelation treatment, and gene therapy.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.