Current Pediatric Reviews

Giuseppe Buonocore
Department of Molecular and Developmental Medicine
University of Siena
Siena
Italy

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Non-transfusion Dependent Thalassemias: A Developing Country Perspective

Author(s): Somnath Mukherjee, Rashmi R. Das, Babita Raghuwanshi.

Abstract:

Non-transfusion-dependent thalassemias (NTDT) encompass a group of hereditary chronic hemolytic anemia, which, as the name indicates, not require regular blood transfusion for survival. These include β-thalassemia intermedia, hemoglobin E/-thalassemia, and Hemoglobin H disease (- thalassemia intermedia). Individuals with structural variant of hemoglobin especially Hemoglobin S and Hemoglobin C associated with “α” or “β” thalassemia in heterozygous condition may also present with similar features of NTDT. NTDT patients are not immune to the development of transfusion unrelated complications in the long run. These hereditary chronic hemolytic anemias are still under-recognized in developing countries like India, where the disease burden might be high causing significant morbidity. The pathophysiologic hallmark that characterizes this group of disorders (ineffective erythropoiesis, hemolysis, chronic anemia) leads to a number of serious complications, similar to transfusion dependent thalassemia. So, timely diagnosis and institution of appropriate preventive/remedial measures as well as education of patient population can help decrease the morbidity to a significant extent. In the present review, focus will be on the pathophysiological mechanisms and available management options of NTDT from a developing country perspective like India.

Keywords: β-thalassemia intermedia, hemoglobinopathy, hepcidin, ineffective erythropoiesis, iron chelators.

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Article Details

VOLUME: 11
ISSUE: 2
Year: 2015
Page: [87 - 97]
Pages: 11
DOI: 10.2174/1573396311666150702104822
Price: $58