The Impact of Genotype on Bone Complications in Beta Thalassemia Major Patients. | ||||
| Zagazig University Medical Journal | ||||
| Article 37, Volume 30, Issue 3, May and June 2024, Page 935-945 PDF (1.19 MB) | ||||
| Document Type: Original Article | ||||
| DOI: 10.21608/zumj.2023.189467.2731 | ||||
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| Authors | ||||
ali abdel-hameed Abdo1; Mohamed Refaat Beshir2; Tamer Hassan 3; Amr Abd EL Aziz Hanafi Mohamed  4
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| 1Professor of Pediatrics, Pediatric Department, Faculty of Medicine, Zagazig University, Sharkia, Egypt. | ||||
| 2Pediatric department , faculty of medicine Zagazig university | ||||
| 3Assistant Professor of Radiodiagnosis, Radiology Department, Faculty of Medicine, Zagazig University, Sharkia, Egypt. | ||||
| 4Al-Ahrar Teaching Hospital,MBBCH ,Faculty of Medicine, Zagazig University, Sharkia, Egypt. Master of Pediatrics, Pediatric Department, Zagazig University, Sharkia, Egypt | ||||
| Abstract | ||||
| Background: Specific genetic mutations in β‑thalassemia lead to complete lack of β‑globin chain production, considered as β° thalassemia, others allow some synthesis of the β-globin and are known as β+ thalassemia. Patients need regular blood transfusions to correct anemia and iron-chelating therapy, to control iron overload. Severe anemia, along with excess body iron, and chelation therapy, can result in complications, as bone abnormalities, growth retardation, liver, cardiac, and endocrine disorders.Methods: Cross sectional study subjected to record the impact of genotype on occurrence of bone complications in β thalassemia cases, while 50 thalassemic cases involved from july 2017 to June 2018. DNA sequencing allowed for the cases' genotype identification. Bone density is evaluated using a dexa scan, translated into a Z-score compared to an appropriate reference, as well as bone imaging and laboratory investigations, which all evaluated as biochemical variables. Results: Low bone mineral density was the commonest bone complication, while osteoprosis and osteopenia represented 34% and 28% respectively, other bone problems presented in 16% of cases. Additionally, a positive correlation between occurrence of osteoporosis and older patients, longer transfusion times, high ferritin levels, and longer transfusion gaps. The three most common mutations discovered were IVS1-110, IVS1-1, and IVS1-6 (28, 26, and 16%, respectively). The β°β° genotype showed a significantly high incidence of complications and low bone density compared to those with β°β+ and β+β+ genotypes.Conclusion: bone complications are common association in β-thalassemia major cases with a clear correlation between genotype and clinical disease progression as well as its severity. | ||||
| Keywords | ||||
| Beta-thalassemia major; Genotype; Bone density; Dexa scan | ||||
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