Thalassaemic Osteopathy: a cross-sectional preliminary study from Sri Lanka
-
Ruwangi Dissanayake
,
Shamya de Silva
Abstract
Introduction: The objectives of this study were to demonstrate the presence of low bone mineral density (BMD) and to examine the association of known risk factors for low BMD in patients with beta thalassaemia major in Sri Lanka.
Method: Thirty-eight patients were studied. Their examination and laboratory investigation findings were recorded (haematology, biochemistry, hormonal profile, COL1A1 rs1800012G>T genotype, dual energy X-ray absorptiometry (DXA) scanning).
Results: Mean age was 10.95 years (range 5–21.4). 20 (52.6%) were male. BMD was low (z score ≤–2.0) in 12 (31.5%). Regression analysis of BMD on known risk factors (age, sex, pubertal stage, ferritin level, average pre-transfusion haemoglobin, serum calcium level and COL1A1 rs1800012G>T genotype) controlling for confounding factors on each comparison, showed that only age was significantly associated with low BMD (p=0.005).
Conclusions: Approximately one-third of patients had a low BMD. Only age was significantly associated with a low BMD.
References
1. Cooley TB, Lee P. A series of cases of splenomegaly in children with anaemia and peculiar bone changes. Trans Am Pediatr Soc 1925;37:29–30.Suche in Google Scholar
2. Modell B, Letsky EA, Flynn DM, Peto R, Weatherall DJ. Survival and desferrioxamine in thalassaemia major. Br Med J (Clin Res Ed) 1982;284:1081–4.Suche in Google Scholar
3. Chatterjee R, Bajoria R. Osteopenia-osteoporosis syndrome in patients with thalassemia: understanding of type of bone disease and response to treatment. Hemoglobin 2009;33 (suppl 1):136–8.Suche in Google Scholar
4. Shaw NJ. Management of osteoporosis in children. Eur J Endocrinol 2008;159 (suppl 1):33–9.Suche in Google Scholar
5. Voskaridou E, Terpos E. Pathogenesis and management of osteoporosis in thalassemia. Pediatr Endocrinol Rev 2008;6(suppl 1):86–93.Suche in Google Scholar
6. Vogiatzi MG, Macklin EA, Fung EB, Cheung AM, Vichinsky E, et al. Thalassemia Clinical Research Network. Bone disease in thalassemia: a frequent and still unresolved problem. J Bone Miner Res 2009;24:543–57.Suche in Google Scholar
7. Arisal O, Deviren A, Fenerci EY, Hacihanefioglu S, Ulutin T, et al. Polymorphism analysis in the COL1A1 gene of patients with thalassaemia major and intermedia. Haematologia (Budap) 2002;32:475–82.Suche in Google Scholar
8. Grant SF, Reid DM, Blake G, Herd R, Fogelman I, et al. Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. Nat Genet 1996;14:203–5.Suche in Google Scholar
9. Shamshirsaz AA, Bekheirnia MR, Kamgar M, Pourzahedgilani N, Bouzari N, et al. Metabolic and endocrinologic complications in beta-thalassemia major: a multicenter study in Tehran. BMC Endocr Disord 2003;3:4.Suche in Google Scholar
10. Karimi M, Ghiam AF, Hashemi A, Alinejad S, Soweid M, et al. Bone mineral density in beta-thalassemia major and intermedia. Indian Pediatr 2007;44:29–32.Suche in Google Scholar
11. Jensen CE, Tuck SM, Agnew JE, Koneru S, Morris RW, et al. B. High prevalence of low bone mass in thalassaemia major. Br J Haematol 1998;103:911–5.Suche in Google Scholar
12. Aslan I, Canatan D, Balta N, Kacar G, Dorak C, et al. Bone mineral density in thalassemia major patients from Antalya, Turkey. Int J Endocrinol 2012;2012:573298.Suche in Google Scholar
13. Tantawy AA, El-Bostany EA, Matter RM, El-Ghoroury EA, Ragab S. Predictors of bone disease in Egyptian prepubertal children with β-thalassaemia major. Arch Med Sci 2010;6:584–91.Suche in Google Scholar
14. Vogiatzi MG, Autio KA, Schneider R, Giardina PJ. Low bone mass in prepubertal children with thalassemia major: insights into the pathogenesis of low bone mass in thalassemia. J Pediatr Endocrinol Metab 2004;17:1415–21.Suche in Google Scholar
15. Yazigi A, Maalouf G, Inati-Khoriati A, Tamim H, Saab C. Bone mineral density in beta-thalassemic Lebanese children. J Muskuloskelet Neuronal Interact 2002;2:463–8.Suche in Google Scholar
16. Carmina E, Di Fede G, Napoli N, Renda G, Vitale G, et al. Hypogonadism and hormone replacement therapy on bone mass of adult women with thalassemia major. Calcif Tissue Int 2004;74:68–71.Suche in Google Scholar
17. Anapliotou ML, Kastanias IT, Psara P, Evangelou EA, Liparaki M, et al. The contribution of hypogonadism to the development of osteoporosis in thalassemia major: new therapeutic approaches. Clin Endocrinol (Oxf) 1995;42: 279–87.Suche in Google Scholar
18. Molyvda-Athanasopoulou E, Sioundas A, Karatzas N, Aggellaki M, Pazaitou K, et al. Bone mineral density of patients with thalassemia major: four-year follow-up. Calcif Tissue Int 1999;64:481–4.Suche in Google Scholar
19. Lasco A, Morabito N, Gaudio A, Buemi M, Wasniewska M, et al. Effects of hormonal replacement therapy on bone metabolism in young adults with beta-thalassemia major. Osteoporos Int 2001;12:570–5.Suche in Google Scholar
©2014 by Walter de Gruyter Berlin Boston
Artikel in diesem Heft
- Masthead
- Masthead
- Images in pediatric endocrinology
- Leprechaunism (Donohue syndrome): report of a case in a newborn
- Original articles
- Children and adolescents with type 1 diabetes in Germany are more overweight than healthy controls: results comparing DPV database and CrescNet database
- Age of onset of pubertal maturation of Thai boys
- Plasma leptin and adiponectin concentrations correlate with cardiometabolic risk and systemic inflammation in healthy, non-obese children
- Early differentiation between good and poor response to growth hormone therapy in short children born small for gestational age (SGA) to improve the outcome of poor responders
- Children and adolescents with type 1 diabetes mellitus have a sixfold greater risk for prolonged QTc interval
- Effect of micronutrient supplementation on height velocity of underprivileged girls in comparison with un-supplemented healthy controls
- Insulin resistance in young adults born small for gestational age (SGA)
- The effect of childhood obesity on cardiac functions
- Adiponectin serum concentrations in newborn at delivery appear to be of fetal origin
- Thalassaemic Osteopathy: a cross-sectional preliminary study from Sri Lanka
- Health-related quality of life in Turner syndrome and the influence of key features
- Clinical analysis on 33 patients with hypothalamic syndrome in Chinese children
- The relationship between thyroid dose and diagnosis of primary hypothyroidism in pediatric brain tumor patients receiving craniospinal irradiation
- Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome
- Expensive therapies in children: benefit versus cost of combined treatment of recombinant human growth hormone and gonadotropin-releasing hormone analogue in girls with poor height potential
- The absence of mutations in homeobox candidate genes HOXA3, HOXB3, HOXD3 and PITX2 in familial and sporadic thyroid hemiagenesis
- A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism
- Heterozygous GHR gene mutation in a child with idiopathic short stature
- A novel compound mutation of CYP27B1 in a Chinese family with vitamin D-dependent rickets type 1A
- A de novo mutation of DAX1 in a boy with congenital adrenal hypoplasia without hypogonadotropic hypogonadism
- Patient reports
- Hypercalcemia and osteolytic lesions as presenting symptoms of acute lymphoblastic leukemia in childhood. The use of zoledronic acid and review of the literature
- Preterm ovarian hyperstimulation syndrome presented with vaginal bleeding: a case report
- Pituitary stalk lesion in a 13-year-old female
- Radiologic manifestation of a BCS1L-mutated patient
- Permanent neonatal diabetes mellitus caused by a novel mutation in the KCNJ11 gene
- NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients
- A teenage boy with hypocalcemia after radioablation for Graves’ disease
- Short communication
- A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect
- Letter to the Editor
- Endometriosis and migraine: what is there behind the scenes?
- 10.1515/jpem-2014-0999
Artikel in diesem Heft
- Masthead
- Masthead
- Images in pediatric endocrinology
- Leprechaunism (Donohue syndrome): report of a case in a newborn
- Original articles
- Children and adolescents with type 1 diabetes in Germany are more overweight than healthy controls: results comparing DPV database and CrescNet database
- Age of onset of pubertal maturation of Thai boys
- Plasma leptin and adiponectin concentrations correlate with cardiometabolic risk and systemic inflammation in healthy, non-obese children
- Early differentiation between good and poor response to growth hormone therapy in short children born small for gestational age (SGA) to improve the outcome of poor responders
- Children and adolescents with type 1 diabetes mellitus have a sixfold greater risk for prolonged QTc interval
- Effect of micronutrient supplementation on height velocity of underprivileged girls in comparison with un-supplemented healthy controls
- Insulin resistance in young adults born small for gestational age (SGA)
- The effect of childhood obesity on cardiac functions
- Adiponectin serum concentrations in newborn at delivery appear to be of fetal origin
- Thalassaemic Osteopathy: a cross-sectional preliminary study from Sri Lanka
- Health-related quality of life in Turner syndrome and the influence of key features
- Clinical analysis on 33 patients with hypothalamic syndrome in Chinese children
- The relationship between thyroid dose and diagnosis of primary hypothyroidism in pediatric brain tumor patients receiving craniospinal irradiation
- Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome
- Expensive therapies in children: benefit versus cost of combined treatment of recombinant human growth hormone and gonadotropin-releasing hormone analogue in girls with poor height potential
- The absence of mutations in homeobox candidate genes HOXA3, HOXB3, HOXD3 and PITX2 in familial and sporadic thyroid hemiagenesis
- A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism
- Heterozygous GHR gene mutation in a child with idiopathic short stature
- A novel compound mutation of CYP27B1 in a Chinese family with vitamin D-dependent rickets type 1A
- A de novo mutation of DAX1 in a boy with congenital adrenal hypoplasia without hypogonadotropic hypogonadism
- Patient reports
- Hypercalcemia and osteolytic lesions as presenting symptoms of acute lymphoblastic leukemia in childhood. The use of zoledronic acid and review of the literature
- Preterm ovarian hyperstimulation syndrome presented with vaginal bleeding: a case report
- Pituitary stalk lesion in a 13-year-old female
- Radiologic manifestation of a BCS1L-mutated patient
- Permanent neonatal diabetes mellitus caused by a novel mutation in the KCNJ11 gene
- NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients
- A teenage boy with hypocalcemia after radioablation for Graves’ disease
- Short communication
- A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect
- Letter to the Editor
- Endometriosis and migraine: what is there behind the scenes?
- 10.1515/jpem-2014-0999
