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

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.

Presence of the IVS-I-6-Mutated Allele in Beta-Thalassemia Major Patients Correlates with Extramedullary Hematopoiesis Incidence

“…The IVS-I-6 (T→C) mutation is one of the most common causes of β-thalassemia among individuals of Mediterranean and Middle Eastern ancestry [39,40]. Its high incidence has been reported among populations from Portugal [41]; Spain [42,43]; Albania [44]; the region of former Yugoslavia [45,46,47,48]; Greece [49,50,51,52]; Algeria [53]; Egypt [54]; Palestine [55,56]; Lebanon [57]; Syria [58,59]; Cyprus [60]; Turkey [61,62,63,64,65]; Saudi Arabia [66,67]; Iraq [68,69,70,71]; Iran [72,73,74]; and elsewhere. It results from a base substitution close to the 5′ splice junction, between exon I and intron I, and within a conserved consensus sequence, interfering with mRNA splicing and, consequently, reducing its efficiency.…”

Scalar Scoring in Thalassemia Genotype: As a New Overview

“…Therefore, it is an effective applied method for learning, interpreting, and simplifying complicated concepts of thalassemia syndromes. We think that using simple language is most important factor for effectiveness of this course and this method similar case based bedside teaching provides active learning in real context observes students skills, increases learners' motivation and professional thinking, integrates clinical, communication, problem solving, decision making and ethical skills [1][2][3][4][5].…”

Early development of decreased β‐cell insulin secretion in children and adolescents with hemoglobin H disease and its relationship with levels of anemia

“…Insulin resistance has been extensively studied among patients with TDT (mainly β‐thalassemia major), and it is known to be related to the severity of iron overload . Meanwhile, studies in NTDT patients (mostly β‐thalassemia intermedia) with iron overload reported variable prevalence of impaired glucose tolerance and DM . However, there are no previous data specific to the role of iron overload in insulin resistance among patients with Hb H disease.…”

“…Previous studies in adults with NTDT that mainly focused on β‐thalassemia intermedia reported a variable prevalence of impaired glucose tolerance (2.9%‐24%) and DM (1.4%‐4.5%)—both of which were found to be associated with iron overload . However, such studies have been rarely reported in α‐thalassemia hemoglobin H (Hb H) disease, which is the most common form of NTDT worldwide .…”