BONE MINERAL DENSITY AND VITAMIN D RECEPTOR GENETIC VARIANTS IN EGYPTIAN CHILDREN WITH BETA THALASSEMIA ON VITAMIN D SUPPLEMENTATION
Background: 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. Objectives: To evaluate the effect of VDR genetic...
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PAGEPress Publications
2019-01-01
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| Series: | Mediterranean Journal of Hematology and Infectious Diseases |
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| Online Access: | https://www.mjhid.org/index.php/mjhid/article/view/3601 |
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| author | Hadeer A Abbassy Reham Abdel Haleem Abo Elwafa Omneya Magdy Omar |
| author_facet | Hadeer A Abbassy Reham Abdel Haleem Abo Elwafa Omneya Magdy Omar |
| author_sort | Hadeer A Abbassy |
| collection | DOAJ |
| description | Background: 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.
Objectives: To evaluate the effect of VDR genetic variants on vitamin D levels and BMD in βTM Egyptian patients supplemented with vitamin D.
Methods: This study was conducted on forty children with βTM and forty unrelated healthy sex and age-matched controls. Serum calcium, phosphorus, ALP, ferritin and vitamin D were measured. VDR genetic variants (BsmI, TaqI, and FokI) 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.
Results: In βTM patients, 22.5% had deficient, 50% had insufficient and only 27.5% had sufficient levels of vitamin D. BMD Z score was significantly lower in βTM patients compared to controls (p<0.001). Osteopenia and osteoporosis of lumbar spines were observed in 70% and 22.5% of βTM patients respectively. BsmI bb and FokI Ff and ff genotypic variants were significantly associated with lower vitamin D and BMD Z score. No association was observed with TaqI genotypic variants.
Conclusions: We reported a high prevalence of low BMD in βTM despite vitamin D supplementation. The BsmI bb, FokI Ff and ff genotypic variants of VDR can be considered as risk factors for the occurrence of osteoporosis in these children. Vitamin D doses should be adjusted individually according to the genetic makeup of each patient. |
| format | Article |
| id | doaj-art-837ddec3abbe4b5b8df408dec8fe294d |
| institution | DOAJ |
| issn | 2035-3006 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | Mediterranean Journal of Hematology and Infectious Diseases |
| spelling | doaj-art-837ddec3abbe4b5b8df408dec8fe294d2025-08-20T02:50:45ZengPAGEPress PublicationsMediterranean Journal of Hematology and Infectious Diseases2035-30062019-01-01111e2019013e201901310.4084/mjhid.2019.0133601BONE MINERAL DENSITY AND VITAMIN D RECEPTOR GENETIC VARIANTS IN EGYPTIAN CHILDREN WITH BETA THALASSEMIA ON VITAMIN D SUPPLEMENTATIONHadeer A Abbassy0Reham Abdel Haleem Abo Elwafa1Omneya Magdy Omar2Clinical Pathology Department, Faculty of Medicine, Alexandria UniversityClinical Pathology Department, Faculty of Medicine, Alexandria UniversityPediatric Medicine Department ,Faculty of Medicine, Alexandria UniversityBackground: 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. Objectives: To evaluate the effect of VDR genetic variants on vitamin D levels and BMD in βTM Egyptian patients supplemented with vitamin D. Methods: This study was conducted on forty children with βTM and forty unrelated healthy sex and age-matched controls. Serum calcium, phosphorus, ALP, ferritin and vitamin D were measured. VDR genetic variants (BsmI, TaqI, and FokI) 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. Results: In βTM patients, 22.5% had deficient, 50% had insufficient and only 27.5% had sufficient levels of vitamin D. BMD Z score was significantly lower in βTM patients compared to controls (p<0.001). Osteopenia and osteoporosis of lumbar spines were observed in 70% and 22.5% of βTM patients respectively. BsmI bb and FokI Ff and ff genotypic variants were significantly associated with lower vitamin D and BMD Z score. No association was observed with TaqI genotypic variants. Conclusions: We reported a high prevalence of low BMD in βTM despite vitamin D supplementation. The BsmI bb, FokI Ff and ff genotypic variants of VDR can be considered as risk factors for the occurrence of osteoporosis in these children. Vitamin D doses should be adjusted individually according to the genetic makeup of each patient.https://www.mjhid.org/index.php/mjhid/article/view/3601Vitamin DVDR genetic variantsBMDOsteoporosisDEXAThalassemia. |
| spellingShingle | Hadeer A Abbassy Reham Abdel Haleem Abo Elwafa Omneya Magdy Omar BONE MINERAL DENSITY AND VITAMIN D RECEPTOR GENETIC VARIANTS IN EGYPTIAN CHILDREN WITH BETA THALASSEMIA ON VITAMIN D SUPPLEMENTATION Mediterranean Journal of Hematology and Infectious Diseases Vitamin D VDR genetic variants BMD Osteoporosis DEXA Thalassemia. |
| title | BONE MINERAL DENSITY AND VITAMIN D RECEPTOR GENETIC VARIANTS IN EGYPTIAN CHILDREN WITH BETA THALASSEMIA ON VITAMIN D SUPPLEMENTATION |
| title_full | BONE MINERAL DENSITY AND VITAMIN D RECEPTOR GENETIC VARIANTS IN EGYPTIAN CHILDREN WITH BETA THALASSEMIA ON VITAMIN D SUPPLEMENTATION |
| title_fullStr | BONE MINERAL DENSITY AND VITAMIN D RECEPTOR GENETIC VARIANTS IN EGYPTIAN CHILDREN WITH BETA THALASSEMIA ON VITAMIN D SUPPLEMENTATION |
| title_full_unstemmed | BONE MINERAL DENSITY AND VITAMIN D RECEPTOR GENETIC VARIANTS IN EGYPTIAN CHILDREN WITH BETA THALASSEMIA ON VITAMIN D SUPPLEMENTATION |
| title_short | BONE MINERAL DENSITY AND VITAMIN D RECEPTOR GENETIC VARIANTS IN EGYPTIAN CHILDREN WITH BETA THALASSEMIA ON VITAMIN D SUPPLEMENTATION |
| title_sort | bone mineral density and vitamin d receptor genetic variants in egyptian children with beta thalassemia on vitamin d supplementation |
| topic | Vitamin D VDR genetic variants BMD Osteoporosis DEXA Thalassemia. |
| url | https://www.mjhid.org/index.php/mjhid/article/view/3601 |
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