Bone mineral density and vitamin d receptor polymorphism in beta-thalassemia major
Pakistan Journal of Pharmaceutical Sciences. 2010; 23 (1): 89-96
em Inglês
| IMEMR
| ID: emr-93413
ABSTRACT
Osteoporosis is the most prevalent bone complication in beta-thalassemic patients despite regular transfusions and iron chelation therapy. Although its etiology is multi-factorial, genetic factors play an important role in pathogenesis. These factors have not yet been clearly defined, however, osteoporosis may be related to vitamin D receptor gene BsmI polymorphism. In this study, BsmI vitamin D receptor gene polymorphism was analyzed using polymerase chain reaction and BsmI restriction fragment length polymorphism in 42 regularly treated- beta-thalassemic patients of different ages. Bone mineral density was measured by peripheral quantitative ultrasound at the heel of the foot. Serum levels of alkaline phosphatase, calcium, phosphorus, ferritin and 25-hydroxyvitamin D[3] were determined. Patients were divided into two groups according to pubertal signs group I [22 children], and group II [20 adolescents and adults]. The Z-scores of bone mineral density in both groups were -1.32 +/- -0.9 and -2.30 +/- -1.02 respectively, with a significant difference between the two groups. The height standard deviation and 25-hydroxyvitamin D[3] were significantly decreased in group II compared to group I. Moreover, significantly lower bone mineral density and height standard deviation were detected among patients with BB vitamin D receptor genotype. Therefore, this genotype may be considered as a risk factor for osteoporosis in p-thalassemic patients
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Osteoporose
/
Densidade Óssea
/
Fatores de Risco
/
Talassemia beta
/
Receptores de Calcitriol
Limite:
Adolescente
/
Adulto
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Pak. J. Pharm. Sci.
Ano de publicação:
2010
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