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VOLUME 2 , ISSUE 1 ( January-March, 2018 ) > List of Articles

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Thalassemia: An Indian Perspective

Prabhat Agrawal

Keywords : Hemoglobin, Prenatal diagnosis, Thalassemia, Transfusion Therapy

Citation Information : Agrawal P. Thalassemia: An Indian Perspective. World J Anemia 2018; 2 (1):11-15.

DOI: 10.5005/jp-journals-10065-0021

License: CC BY-ND 3.0

Published Online: 01-03-2018

Copyright Statement:  Copyright © 2018 Jaypee Brothers Medical Publishers (P) Ltd.


Abstract

Thalassemia is a congenital and hereditary disease and comprises a “group” of hematological phenotypes. The most common form of thalassemia is due to a defective beta gene. India has a huge burden of many patients with a β-thalassemia syndrome and sickle cell disease, but few among them are optimally managed, and allogeneic stem cell transplant is unaffordable for the majority of families. Thalassemia was considered by Caffey to be the best example of skeletal dwarfism and infantilism caused by chronic anemia. Transfusion therapy, which is the mainstay of treatment, allows for normal growth and development and suppresses ineffective erythropoiesis. Hematopoietic stem cell transplantation is the only available treatment with the high cost and scarcity of human leukocyte antigen (HLA)-matched, related donors. Prevention and control of beta-thalassemia disease require the accurate diagnosis of carriers and proper genetic counseling. Prenatal diagnosis can be performed in the first or second trimester of pregnancy by deoxyribonucleic acid (DNA) analysis using polymerase chain reaction (PCR). Since there are 17 mutations as well as rare ones causing beta-thalassemia in Asian Indians, the point mutation detection by reverse dot blot (RDB) allele-specific oligonucleotide hybridization for common mutations along with amplification refractory mutation system (ARMS) techniques has been developed for prenatal diagnosis. The author has tried to explain all the important facts regarding thalassemia in an Indian perspective in this article to help the readers.


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