Bone Mineral Density and Vitamin D Receptor Genetic Variants in Egyptian Children with Beta Thalassemia Major on Vitamin D Supplementation

• Published in: Mediterranean journal of hematology and infectious diseases 2019, Vol.11 (1), p.e2019013-e2019013
• Main Authors: Abbassy, Hadeer A, Elwafa, Reham A Abo, Omar, Omneya M
• Format: Article
• Language: English
• Subjects: Original
• ISSN: 2035-3006; 2035-3006
• DOI: 10.4084/MJHID.2019.013

Low bone mineral density (BMD) is a characteristic feature of Beta thalassemia major (βTM) patients. Vitamin D is important for bone mineralization. Vitamin D receptors (VDR) genetic variants may be related to vitamin D status and BMD. To evaluate the effect of VDR genetic variants on vitamin D levels and BMD in βTM Egyptian patients supplemented with vitamin D. This study was conducted on forty children with βTM and seventeen unrelated healthy sex and age-matched controls. Serum calcium, phosphorus, alkaline phosphatase, ferritin, and vitamin D were measured. VDR genetic variants ( , , and ) were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). BMD was measured by dual-energy X-ray densitometry (DEXA) of the lumbar spine. In βTM patients, 22.5% had insufficient, and 77.5% had sufficient levels of vitamin D, and no cases had vitamin D deficient. BMD Z score was significantly lower in βTM patients compared to controls (p