β-Thalassemia Intermedia: a Comprehensive Overview and Novel Approaches

Overview

Journal Int J Hematol

Specialty Hematology

Date 2018 Jan 31

PMID 29380178

Citations 33

Authors

Chingiz Asadov

Zohra Alimirzoeva

Tahira Mammadova

Gunay Aliyeva

Shahla Gafarova

Jeyhun Mammadov

Affiliations

Soon will be listed here.

Abstract

β-Thalassemia intermedia is a clinical condition of intermediate gravity between β-thalassemia minor, the asymptomatic carrier, and β-thalassemia major, the transfusion-dependent severe anemia. It is characterized by a significant clinical polymorphism, which is attributable to its genetic heterogeneity. Ineffective erythropoiesis, chronic anemia, and iron overload contribute to the clinical complications of thalassemia intermedia through stepwise pathophysiological mechanisms. These complications, including splenomegaly, extramedullary erythropoiesis, iron accumulation, leg ulcers, thrombophilia, and bone abnormalities can be managed via fetal hemoglobin induction, occasional transfusions, chelation, and in some cases, stem cell transplantation. Given its clinical diversity, thalassemia intermedia patients require tailored approaches to therapy. Here we present an overview and novel approaches to the genetic basis, pathophysiological mechanisms, clinical complications, and optimal management of thalassemia intermedia.

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