Beta thalassemia - a review

  • R Jha Department of Pathology, Tribhuwan University Teaching Hospital, Kathmandu
  • S Jha Department of Pathology, Manipal College of Medical Sciences, Pokhara
Keywords: Beta Thalassemia, Carrier detection, Mutation, Prental diagnosis

Abstract

Thalassemia is a globin gene disorder that results in a diminished rate of synthesis of one or more of the globin chains. About 1.5% of the global population (80 to 90 million people) are carriers of beta Thalassemia. More than 200 mutations are described in beta thalassemia. However not all mutations are common in different ethnic groups. The only effective way to reduce burden of thalassemia is to prevent birth of homozygotes. Diagnosis of beta thalassemia can be done by fetal DNA analysis for molecular defects of beta thalassemia or by fetal blood analysis. Hematopoietic stem cell transplantation is the only available curative approach for Thalassemia. Many patients with thalassemia in underdeveloped nations die in childhood or adolescence. Programs that provide acceptable care, including transfusion of safe blood and supportive therapy including chelation must be established.

DOI: http://dx.doi.org/10.3126/jpn.v4i8.11609

Journal of Pathology of Nepal; Vol.4,No. 8 (2014) 663-671

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Abstract
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Published
2014-09-24
How to Cite
Jha, R., & Jha, S. (2014). Beta thalassemia - a review. Journal of Pathology of Nepal, 4(8), 663-671. https://doi.org/10.3126/jpn.v4i8.11609
Section
Review Articles