Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq.
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...
| Publicado en: | BioMed Research International pp. 1 - 12 |
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| Autores principales: | , , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Wiley-Blackwell
6/30/2020
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=144317280&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 144317280 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 23146133 FT2T jtl: BioMed Research International issn: 23146133 maglogo: N pubinfo: dt: 6/30/2020 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 144317280 144317280 144317280 10.1155/2020/2807120 144317280 ppf: 1 ppct: 11 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq. aug: au: Amin, Shaema Salih Jalal, Sana Dlawar Ali, Kosar Muhammed Mohammed, Ali Ibrahim Rasool, Luqman Khalid Osman, Tara Jamel affil: Sulaymaniyah Directorate of Health, Hewa Oncology Hospital, Sulaymaniyah, Iraq sug: subj: beta-Thalassemia Diagnosis beta-Thalassemia Complications beta-Thalassemia Familial and Genetic Human Iraq Mutation Evaluation Sequence Analysis Methods Electronic Health Records Questionnaires Genotype Evaluation Morbidity Risk Factors Risk Assessment Bone Diseases Risk Factors Face Pathology Osteoporosis Risk Factors Autoimmune Diseases Risk Factors Hypothyroidism Risk Factors Growth Disorders Risk Factors Cholelithiasis Risk Factors Hypertension, Pulmonary Risk Factors Liver Function Tests Venous Thrombosis Risk Factors Leg Ulcer Risk Factors Female Adult Aged Middle Age Aged, 80 and Over Male Age Factors Sex Factors Ferritin Blood Blood Transfusion Chelation Therapy Splenectomy Severity of Illness Adult: 19-44 years Aged: 65+ years Middle Aged: 45-64 years Aged, 80 & over Female Male ab: 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. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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