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Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq
Joint Authors
Amin, Shaema Salih
Ali, Kosar Muhammed
Mohammed, Ali Ibrahim
Rasool, Luqman Khalid
Osman, Tara Jamel
Jalal, Sana D.
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-11, 11 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-02-29
Country of Publication
Egypt
No. of Pages
11
Main Subjects
Abstract EN
Objective.
To determine the molecular characterization and disease-associated complications of beta-thalassemia intermedia (β-TI) patients in Sulaymaniyah province, northeastern Iraq.
Methods.
A total of 159 β-TI patients from 114 families were enrolled.
Detection of β-thalassemia mutations was done by reverse hybridization technique and direct gene sequencing.
Also, the clinical and hematological data were collected through an electronic-based medical recording system using a designed comprehensive questionnaire.
Results.
Nineteen different β-globin gene mutations arranged in 37 various genotypes were determined.
The most frequent were IVS-II-I (G>A) (47.2%), followed by IVS-I-6 (T>C) (23.3%) and IVS-I-110 (G>A) (5%).
Among disease-related morbidities documented, bone disease amounted to 53% (facial deformity and osteoporosis), followed by endocrinopathies 17.6% (growth retardation and subclinical hypothyroidism), cholelithiasis 13.8%, pulmonary hypertension 11.3%, and abnormal liver function test 7.5%, whereas venous thrombosis, extramedullary hemopoiesis, and leg ulcer were less frequently observed.
Age≥35 and female sex were risk factors for cholelithiasis, while age was an independent risk for hypothyroidism and female sex was associated with increased risk for osteoporosis.
Mean serum ferritin of ≥1000 μg/L was associated with an increased risk of osteoporosis, whereas chelation therapy was protective for a multitude of other complications.
Transfusion, on the other hand, increased the risk of osteoporosis, yet it was protective for cholelithiasis and hypothyroidism.
Moreover, splenectomy was protective for cholelithiasis, although it was an independent risk for hypothyroidism.
Finally, hydroxyurea was associated with an increased risk of osteoporosis, while it was protective for cholelithiasis.
Discussion and Conclusion.
β+-thalassemia mutation had contributed to 41.25 of families with a less severe β-thalassemia phenotype in the northeastern part of Iraq, justifying the need to investigate the contribution of genetic modifiers in ameliorating disease severity.
In addition, the substantial number of β-TI patients developed disease-related morbidities, which necessitates the need for more appropriate clinical management with earlier intervention.
American Psychological Association (APA)
Amin, Shaema Salih& Jalal, Sana D.& Ali, Kosar Muhammed& Mohammed, Ali Ibrahim& Rasool, Luqman Khalid& Osman, Tara Jamel. 2020. Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq. BioMed Research International،Vol. 2020, no. 2020, pp.1-11.
https://search.emarefa.net/detail/BIM-1132730
Modern Language Association (MLA)
Amin, Shaema Salih…[et al.]. Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq. BioMed Research International No. 2020 (2020), pp.1-11.
https://search.emarefa.net/detail/BIM-1132730
American Medical Association (AMA)
Amin, Shaema Salih& Jalal, Sana D.& Ali, Kosar Muhammed& Mohammed, Ali Ibrahim& Rasool, Luqman Khalid& Osman, Tara Jamel. Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-11.
https://search.emarefa.net/detail/BIM-1132730
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1132730