Bone mineral density in children with beta-thalassemia major in Diyarbakir

Bone ◽  
2011 ◽  
Vol 49 (4) ◽  
pp. 819-823 ◽  
Author(s):  
Ayfer Gözü Pirinççioğlu ◽  
Veysi Akpolat ◽  
Orhan Köksal ◽  
Kenan Haspolat ◽  
Murat Söker
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Mineral Density ◽  
Beta Thalassemia Major

scholarly journals EVALUATION OF GLUTATHIONE-S-TRANSFERASE P1 POLYMORPHISM AND ITS RELATION TO BONE MINERAL DENSITY IN EGYPTIAN CHILDREN AND ADOLESCENTS WITH BETA- THALASSEMIA MAJOR

2016 ◽  
Vol 8 ◽  
pp. 2016004 ◽  
Author(s):  
Seham Ragab
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Z Score ◽  
Glutathione S Transferase ◽  
Mineral Density ◽  
Beta Thalassemia Major ◽  
Egyptian Children ◽  
Z Scores

Background:Osteoporosis is a major problem in beta thalassemia major (TM) patients. Increased oxidative stress and its controlling genes were linked to osteoporosis. Glutathione S-transferase P1 (GSTP1),Ile105 Val variant  is a functional  mutation with  reduced ant-oxidative property  .No data are available about this variant  or its association with osteoporosis  among thalassemia patients yet. Objectives: The aim of this study was to investigate Ile105Val polymorphism and its possible association with bone mineral density (BMD) values in a group of TM  children. Methods:Thirty five TM patients and 30 age and sex matched healthy controls were included. Liver and renal functions, serum ferritin, calcium, phosphorous, alkaline phosphatase and osteocalcin were assayed. BMD was determined by DXA with calculation of  Z-scores at lumbar spine (Ls) and femoral neck (Fn).Height for age z- score (HAZ) adjusted BMD Z-scores were considered . GSTP1 Ile105Val polymorphism was studied by polymerase chain reaction-restriction fragment length polymorphism. Results:The relative frequency of 105 Val allele was significantly higher in TM patients than the controls (P<0.0001). Significant association between genotype subgroups and BMD parameters was detected. Mutant homozygotes had significant lower BMD , Z –score and haz -adjusted BMD  Z-score at both Ls and Fn compared to wild homozygotes ( Ps =0.029, 0.008, 0.011, 0.001,0.02, 0.001) with significant higher osteocalcin level compared to heterozygotes and wild homozygotes (P=0.012 and P=0.013,respectively). Conclusion:  The results indicated that 105Val allele was frequent among TM patients and could increase their susceptibility to osteoporosis. Large sample studies are required to confirm these findings.  

Bone mineral density in children and young adults with beta-thalassemia major conventionally treated

2006 ◽  
Vol 47 (1) ◽  
pp. 113-114 ◽  
Author(s):  
Athanasios Christoforidis ◽  
Emmanouil Hatzipantelis ◽  
Ioanna Tsatra ◽  
Eirini Kazantzidou ◽  
George Katzos ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Young Adults ◽  
Bone Mineral ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Mineral Density ◽  
Beta Thalassemia Major ◽  
Children And Young Adults

scholarly journals Zoledronic Acid for Treatment of Low Bone Mineral Density in Patients with Beta Thalassemia Major

2018 ◽  
Vol 34 (4) ◽  
pp. 648-652
Author(s):  
Rahul Naithani ◽  
Tulika Seth ◽  
Nikhil Tandon ◽  
Jagdish Chandra ◽  
V. P. Choudhry ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Zoledronic Acid ◽  
Bone Mineral ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Mineral Density ◽  
Low Bone Mineral Density ◽  
Beta Thalassemia Major

scholarly journals Fractures and Low Bone Mineral Density in Patients with Beta Thalassemia Major

2017 ◽  
Vol 34 (1) ◽  
pp. 163-165 ◽  
Author(s):  
Rahul Naithani ◽  
Tulika Seth ◽  
Nikhil Tandon ◽  
Jagdish Chandra ◽  
H. Pati ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Mineral Density ◽  
Low Bone Mineral Density ◽  
Beta Thalassemia Major

Activin-A is elevated in patients with thalassemia major and double heterozygous sickle cell/beta-thalassemia and correlates with markers of hemolysis and bone mineral density

2019 ◽  
Vol 98 (7) ◽  
pp. 1583-1592
Author(s):  
Ersi Voskaridou ◽  
Ioannis Ntanasis-Stathopoulos ◽  
Dimitrios Christoulas ◽  
Maria Dimopoulou ◽  
Veroniki Komninaka ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Sickle Cell ◽  
Bone Mineral ◽  
Thalassemia Major ◽  
Activin A ◽  
Beta Thalassemia ◽  
Mineral Density

Circulating Activin-A Is Elevated in Patients with Thalassemia Major and Double Heterozygous Sickle-Cell/Beta-Thalassemia and Correlates with Markers of Hemolysis and Bone Mineral Density

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 3256-3256
Author(s):  
Ersi Voskaridou ◽  
Dimitrios Christoulas ◽  
Maria Dimopoulou ◽  
Veroniki Komninaka ◽  
Maria Tsalkani ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Sickle Cell ◽  
Bone Mineral ◽  
Thalassemia Major ◽  
Activin A ◽  
Beta Thalassemia ◽  
Mineral Density ◽  
Development In Vitro

Abstract Abstract 3256 Activins are typical members of the transforming growth factor beta superfamily in that they contain a conserved cysteine knot motif and are secreted as homo- or heterodimers of related beta-subunits. Activins seem to be implicated in the regulation of erythropoiesis and bone metabolism. Many studies have documented erythropoietic effects of activin-A in transformed cell lines or other in vitro models; however, there is a paucity of functional data regarding hematopoietic roles of activin-A in vivo. Regarding bone remodeling, activin A is produced by osteoblasts, osteoclasts, and bone marrow cells, and there is agreement that activin-A promotes osteoclast development in vitro; however, the effect of activin-A on osteoblast development in vitro varies dramatically depending on experimental conditions. It is of interest that activin-A antagonists (i.e. sotatercept) have increased hemoglobin and bone mineral density (BMD) in patients with multiple myeloma who receive chemotherapy, giving the rationale for their use in other hematological disorders with anemia, like myelodysplastic syndromes. Thalassemia is characterized by ineffective hemopoiesis, while osteopenia or osteoporosis is found in the vast majority of patients due to several reasons including bone marrow expansion and endocrine disorders. The role of activin-A has never been evaluated in hemoglobinopathies. The aim of this study was to examine the role of activin-A in different hemoglobinopathies in an attempt to explore if there is any rationale for the use of activin-A antagonists in this cohort of patients. Therefore, we measured circulating levels of activin-A in 227 patients with hemoglobinopathies: 58 patients had beta-thalassemia major (TM), 43 had beta-thalassemia intermedia (TI), 109 had double heterozygous sickle-cell/beta-thalassemia (HbS/beta-thal) and 17 had homozygous sickle cell disease (SCD) and we explored possible correlations with clinical and laboratory data including bone mineral density (BMD). Activin-A was also measured in the serum of 17, age- and gender-matched, healthy individuals who served as controls. For the evaluation of activin-A, we used an ELISA methodology (Quantikine, R&D Systems, Minneapolis, MN, USA). BMD of the lumbar spine (L1-L4), femoral neck (FN) and distal radius (R) was determined using Dual-energy X-ray absorptiometry (DXA) at the time of activin-A measurement. Patients with TM (mean±SD: 481±213 pg/ml) and HbS/beta-thal (459±181 pg/ml) had elevated circulating activin-A compared to controls (361±87 pg/ml; p=0.041 and p=0.038, respectively). Furthermore, TM patients had higher activin-A levels compared to patients with TI (427±509 pg/ml, p=0.002), while circulating activin-A levels did not differ between TI patients and controls (p=0.811) or between SCD patients (422±132 pg/ml) and controls (p=0.202). In patients with TM, high circulating activin-A showed strong correlations with markers of hemolysis, such as elevated reticulocyte counts (r=0.406, p=0.011) and high lactate dehydrogenase (LDH; r=0.397, p=0.024). Similarly, in HbS/beta-thal patients, activin-A showed positive correlations with indirect bilirubin (r=0.399, p<0.001), ferritin (r=0.270, p=0.005) and LDH (r=0.194, p=0.044). Regarding BMD, osteoporosis (according to the WHO definition based on DXA data) was present in 45% of patients with TM, in 40% of patients with TI, in 33% of SCD patients and in 25% of patients with HbS/beta-thal. High activin-A correlated with low Z-score of L1-L4 BMD in TI patients (r=0.615, p<0.01) and low Z-score of FN-BMD in TM patients (r=0.456, p<0.01). Our data suggest that activin-A is elevated in the serum of patients with TM and HbS/beta-thal and correlates with markers of hemolysis and low BMD. These observations in addition to previously published data that single nucleotide polymorphisms in activin-A receptor type II-like 1 independently contributes to pulmonary hypertension in SCD support a role of activin-A in the biology of these hemoglobinopathies, making activin-A an attractive agent for the development of novel therapies. The strong correlation of high activin-A with bone loss also supports the use of activin-A antagonists in patients with thalassemia and osteopenia or osteoporosis. Disclosures: No relevant conflicts of interest to declare.

Circulating Periostin Is Elevated In Patients With Hemoglobinopathies and Correlates With Bone Mineral Density In Double Heterozygous Sickle-Cell/Beta-Thalassemia Patients; A Novel Marker Of Bone Strength?

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 3445-3445
Author(s):  
Ersi Voskaridou ◽  
Dimitrios Christoulas ◽  
Athanasios Papatheodorou ◽  
Panagiotis Oikonomopoulos ◽  
Veroniki Komninaka ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Bone Loss ◽  
Enzyme Immunoassay ◽  
Bone Strength ◽  
Sickle Cell ◽  
Bone Mineral ◽  
Thalassemia Major ◽  
Activin A ◽  
Beta Thalassemia ◽  
Mineral Density

Abstract Periostin is a matricellular protein, which seems to play an important role as an anabolic factor in bone tissue development and repair. By binding to cell surface receptors, it can modulate cell adhesion, proliferation, and differentiation, as well as cell-matrix interaction. Periostin is involved in collagen folding, a process which is crucial for matrix assembly and, therefore, for bone strength. However, its exact function on bone biology has not been fully clarified. Patients with hemoglobinopathies develop frequently bone loss, leading to osteopenia or osteoporosis. Several factors are implicated in the pathogenesis of bone destruction in these disorders. Our group has recently shown that activin-A is another factor which contributes to low bone mineral density (BMD) in thalassemia major (TM). Intriguingly, current studies have reported that periostin expression is up-regulated by several members of the TGF-β superfamily, including activin-A. Therefore, the aim of this study was to evaluate circulating periostin levels in a large number of patients with hemoglobinopathies and explore possible correlations with clinical and laboratory data, including BMD and circulating activin-A levels. We studied prospectively 162 patients with hemoglobinopathies: 47 patients had beta-thalassemia major (TM), 30 beta-thalassemia intermedia (TI), 75 double heterozygous sickle-cell/beta-thalassemia (HbS/beta-thal) and 10 had homozygous sickle cell disease (SCD). Circulating periostin was measured in the serum of the patients using an enzyme immunoassay (USCN Life Science Inc, Wuhan, Hubei, China), which has an intra-assay CV<10% and an inter-assay CV<12%. Circulating activin-A was measured using also an enzyme immunoassay (R&D Systems, Minneapolis, MN, USA). BMD of the lumbar spine (L1-L4), femoral neck (FN) and distal radius (R) was measured by dual energy X-ray absorptiometry (DXA) in all patients, at the time of blood sampling, using the Norland XR-26 Mark II densitometer (Norland Scientific Instruments, Fort Atkinson, WI, USA). The in vitro precision by repeated daily phantom measurements was 0.7 %, while the in vivo precision was 1.4 %, established in the laboratory used, by double measurements at weekly intervals. The above molecules were also measured in the serum of 17, age- and gender-matched, healthy individuals who served as controls. Patients with TM (mean±SD: 3227±1148 ng/ml), TI (2907±1255 ng/ml), HbS/beta-thal (3173±1244 ng/ml) and SCD (4300±1411 ng/ml) had elevated circulating periostin compared to controls (597±177 ng/ml, p<0.001 for all comparisons). Furthermore, SCD patients had higher periostin levels compared to patients with TI (p=0.005), HbS/beta-thal (p=0.026) and TM (p=0.029). In all patients, circulating periostin correlated weakly with activin-A (r=0.161, p=0.04), while in patients with HbS/beta-thal, high circulating periostin showed weak correlation with LDH (r=0.262, p=0.023). Regarding BMD, osteoporosis (according to the WHO definition based on DXA data) was present in 45% of patients with TM, in 40% of patients with TI, in 33% of SCD patients and in 25% of patients with HbS/beta-thal. Interestingly, high periostin levels strongly correlated with high BMD T-score of L1-L4 in HbS/beta-thal patients (r=0.740, p=0.006), but there were no other correlations between circulating periostin with BMD in the other subtypes of hemoglobinopathies. Our data, the first in the literature on circulating periostin levels in patients with hemoglobinopathies, show that periostin is elevated in the serum of patients with all studied subtypes of hemoglobinopathies, but it correlates with high BMD only in patients with HbS/beta-thal. One possible explanation is that periostin correlates with bone repair and possibly patients with HbS/beta-thal have higher repair activity and thus lower bone loss, increased bone strength and lower incidence of osteoporosis compared to other hemoglobinopathies patients. Furthermore, the presence of different periostin isoforms with unknown activity on bone remodeling may also explain these differences. Further studies are necessary to understand the regulation of periostin and its biological activities in the bone of patients with hemoglobinopathies. Disclosures: No relevant conflicts of interest to declare.

Iron Overload Associated Endocrine Dysfunction Leading to Lower Bone Mineral Density in Thalassemia Major

2020 ◽  
Vol 105 (4) ◽  
pp. e1015-e1024
Author(s):  
Wen-Ping Yang ◽  
Hsiu-Hao Chang ◽  
Hung-Yuan Li ◽  
Ying-Chuen Lai ◽  
Tse-Ying Huang ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Iron Overload ◽  
Bone Mineral ◽  
Fibroblast Growth Factor 23 ◽  
Body Height ◽  
Thalassemia Major ◽  
Lower Bone Mineral Density ◽  
Mineral Density ◽  
Fracture History ◽  
The Mean

Abstract Context Patients with thalassemia major (TM) have a lower bone mineral density (BMD) and higher risk of fracture than the general population. The possible mechanisms include anemia, iron overload, malnutrition, and hormonal deficiency, but these have not been thoroughly investigated. Objective To identify major mineral and hormonal factors related to BMD in adult TM patients to provide human evidence for the proposed mechanisms. Design Retrospective study. Setting Referral center. Patients Twenty-nine patients with β-TM, aged 23 to 44 years who were followed-up during 2017 to 2018 were enrolled. Outcome measurements Endocrine profiles, including thyroid, parathyroid, and pituitary function, glucose, vitamin D, calcium, phosphate, and fibroblast growth factor 23 (FGF23) were obtained. The relationships among the above parameters, body height, fractures, and BMD were analyzed. Results Abnormal BMD was observed in 42.9% of women and 23.1% of men. The mean final heights of women and men were 3.7 cm and 7.3 cm lower than the mean expected values, respectively. Fracture history was recorded in 26.7% of women and 35.7% of men. BMD was negatively correlated with parathyroid hormone, FGF23, thyrotropin, and glycated hemoglobin (HbA1c) levels, and positively correlated with testosterone, IGF-1, and corticotropin levels (all P &lt; .05). Moreover, hypothyroidism was associated with lower BMD in both the lumbar spine (P = .024) and the femoral neck (P = .004). Patients with hypothyroidism had a higher percentage of abnormal BMD (P = .016). Conclusion Hypothyroidism, higher HbA1c, and lower adrenocorticotropin were predictors of abnormal BMD in patients with β-TM. Whether the correction of these factors improves BMD warrants further research.

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