β -thalassemia intermedia in Northern Iraq: a single center experience.
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.
Scientific Research Center, Faculty of Medical Sciences, University of Duhok, Duhok 1014 AM, Iraq.
Nasir A S
NA
Al-Allawi
Department of Pathology, Faculty of Medical Sciences, University of Sulaimaniyah, Sulaimaniyah, Iraq.
Sana D
SD
Jalal
Department of Internal Medicine, Faculty of Medical Sciences, University of Duhok, Duhok 1014 AM, Iraq.
Ameen M
AM
Mohammad
Department of Hematology, Shar Hospital, Sulaimaniyah, Iraq.
Sharaza Q
SQ
Omer
Thalassemia Care Center, Duhok 1014 AM, Iraq.
Raji S D
RS
Markous
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006239:Haplotypes; D006801:Humans; D007493:Iraq; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011110:Polymorphism, Genetic; D055542:alpha-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics* / Q000473:pathology
D055542:alpha-Globins