Non-transfusion Dependent Thalassemias: A Developing Country Perspective
Rashmi R. Das,
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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