β-Thalassemia Intermedia in Northern Iraq: A Single Center Experience

Nasir A S Al-Allawi,Raji S D Markous,Sana D Jalal,Sharaza Q Omer,Ameen M Mohammad

doi:10.1155/2014/262853

Nasir A S Al-Allawi, Raji S D Markous + Show 3 more

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https://doi.org/10.1155/2014/262853

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Abstract

To investigate the molecular basis of β-thalassemia intermedia in Northern Iraq and evaluate its management practices, a total of 74 patients from 51 families were enrolled. The patients were clinically and hematologically reevaluated, and had their β-thalassemia mutations characterized, as well as the number of α-globin genes and Xmn I G γ −158 (C>T) polymorphism studied. Out of 14 β-thalassemia mutations identified, the four most common were IVS-I-6 (T>C) [33.3%], IVS-II-I (G>A) [21.1%], codon 82/83(−G) [10.1%], and codon 8 (−AA) [8.1%]. The most common contributing factors to the less severe phenotype of thalassemia intermedia were found to be the inheritance of mild β-thalassemia alleles and the Xmn I polymorphism, while concomitant α-thalassemia had a limited role. Several complications were documented including: pulmonary hypertension in 20.4%, diabetes mellitus in 1.4%, hypothyroidism in 2.9%, and heart failure in 2.7%, while no documented cases of venous thrombosis were found. Compared to their counterparts in several Mediterranean countries, it appears that our patients were much less frequently transfused and had a lower proportion of patients who were splenectomized, on iron chelation, or hydroxycarbamide therapy. Such practices require further scrutiny to ensure that a better level of care is provided and that growth retardation, skeletal changes, and other complications are prevented or reduced.

Highlights

Beta-thalassemia is an inherited autosomal recessive disorder due to reduction or absence of the hemoglobin β-globin chain synthesis, and it presents in one of three clinical phenotypes, namely, thalassemia major, minor, and intermedia
Thalassemia intermedia (TI) is a less well-defined clinical entity which encompasses thalassemia patients with a wide spectrum of phenotypes that are more severe than thalassemia minor but milder than thalassemia major [2]
All patients diagnosed as thalassemia intermedia at the Duhok thalassemia care center in Northern Iraq were recalled

Summary

Introduction

Beta-thalassemia (thal) is an inherited autosomal recessive disorder due to reduction or absence of the hemoglobin β-globin chain synthesis, and it presents in one of three clinical phenotypes, namely, thalassemia major, minor, and intermedia. The former is due to homozygosity or compound heterozygosity to β-thalassemia mutations and is usually associated with lifelong dependence on blood transfusion and early presentation. A variety of molecular mechanisms have been implicated, including the inheritance of mild βthalassemia mutations, coinheritance of α-thalassemia, and inheritance of genetic determinants associated with high hemoglobin F production [3] The contributions of these genetic modulators vary in different populations and their determination in these populations is imperative to tailor particular therapeutic strategies

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