Clinical Study -Thalassemia Intermedia in Northern Iraq: A Single Center Experience Nasir A. S. Al-Allawi, 1 Sana D. Jalal, 2 Ameen M. Mohammad, 3 Sharaza Q. Omer, 4 and Raji S. D. Markous 5 1 Scientifc Research Center, Faculty of Medical Sciences, University of Duhok, Duhok 1014 AM, Iraq 2 Department of Pathology, Faculty of Medical Sciences, University of Sulaimaniyah, Sulaimaniyah, Iraq 3 Department of Internal Medicine, Faculty of Medical Sciences, University of Duhok, Duhok 1014 AM, Iraq 4 Department of Hematology, Shar Hospital, Sulaimaniyah, Iraq 5 Talassemia Care Center, Duhok 1014 AM, Iraq Correspondence should be addressed to Nasir A. S. Al-Allawi; nallawi@yahoo.com Received 17 November 2013; Revised 18 January 2014; Accepted 20 January 2014; Published 27 February 2014 Academic Editor: Henri Wajcman Copyright © 2014 Nasir A. S. Al-Allawi et al. Tis is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. To investigate the molecular basis of -thalassemia intermedia in Northern Iraq and evaluate its management practices, a total of 74 patients from 51 families were enrolled. Te patients were clinically and hematologically reevaluated, and had their -thalassemia mutations characterized, as well as the number of -globin genes and Xmn I  −158 (C>T) polymorphism studied. Out of 14 - thalassemia mutations identifed, 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%]. Te most common contributing factors to the less severe phenotype of thalassemia intermedia were found to be the inheritance of mild -thalassemia alleles and the Xmn I polymorphism, while concomitant -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. 1. Introduction Beta-thalassemia (thal) is an inherited autosomal recessive disorder due to reduction or absence of the hemoglobin -globin chain synthesis, and it presents in one of three clinical phenotypes, namely, thalassemia major, minor, and intermedia. Te former is due to homozygosity or compound heterozygosity to -thalassemia mutations and is usually associated with lifelong dependence on blood transfusion and early presentation. Talassemia minor, on the other hand, is classically an asymptomatic condition due to heterozygosity to a -thalassemia defect [1]. Talassemia intermedia (TI) is a less well-defned 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]. A variety of molecular mechanisms have been implicated, including the inheritance of mild - thalassemia mutations, coinheritance of -thalassemia, and inheritance of genetic determinants associated with high hemoglobin F production [3]. Te contributions of these genetic modulators vary in diferent populations and their determination in these populations is imperative to tailor particular therapeutic strategies. Several studies have addressed the molecular basis of tha- lassemia major and minor in Iraq [4–6], but none had looked at its basis in thalassemia intermedia patients. Terefore, the current study was initiated to determine the molecular basis of TI and the genotype/phenotype correlations in Northern Hindawi Publishing Corporation BioMed Research International Volume 2014, Article ID 262853, 9 pages http://dx.doi.org/10.1155/2014/262853