Aetiology, diagnosis and treatment of thalassemia-associated osteoporosis of the adult

Journal of Endocrinological Investigation, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 6, 2025

Language: Английский

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Bone Quality is Associated with Fragility Fracture in Patients with Hemoglobinopathies

Journal of Clinical Densitometry, Journal Year: 2025, Volume and Issue: 28(2), P. 101565 - 101565

Published: Jan. 21, 2025

Language: Английский

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Fibroblast growth factor 23 neutralizing antibody partially rescues bone loss and increases hematocrit in sickle cell disease mice

Scientific Reports, Journal Year: 2025, Volume and Issue: 15(1)

Published: March 28, 2025

Fibroblast Growth Factor 23 (FGF23) is increased in serum of humanized Sickle Cell Disease (SCD) mice. Since FGF23 associated with impaired bone formation, we examined the effect FGF23-neutralizing antibody (FGF23Ab) on loss SCD Healthy control (Ctrl) and 5-months-old female mice were treated FGF23Ab or isotype-specific IgG for 6 weeks. Significantly reduced hematocrit was by FGF23Ab. MicroCT femurs revealed no significant reduction metaphyseal volume/total volume vs. Ctrl However, histomorphometry femur significantly mineral apposition rate, formation inter-label thickness, osteoid surface, which osteoclast number/bone perimeter Bone marrow stromal cells (BMSC) cultured osteogenic media mineralized nodules SCD-IgG-BMSC that SCD-FGF23Ab-BMSC. αKlotho protein not phosphorylated FGF Receptor-1, receptor through signals, The mineralization inhibitor osteopontin cultures We conclude may be efficacious improving some parameters

Language: Английский

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Correlation of OPG/RANKL in Patients with Thalassemia Major in the Center of Haemoglobinopathy Lushnje, Albania

European Scientific Journal ESJ, Journal Year: 2024, Volume and Issue: 28

Published: April 8, 2024

Osteoporosis is an important cause of morbidity in hemoglobinopathy patients. It characterized by low bone mass and disruption architecture, resulting reduced strength increased risk fractures. Osteoprotegerin (OPG) receptor activator NF-kappa-B ligand (RANKL) have been recently implicated the pathogenesis various types osteoporosis. The aim our study was to determine if there any correlation between OPG/RANKL patients affected thalassemia major Center Haemoglobinopathy Lushnje. Methods: We measured 70 with Thalassemia 67 healthy control serum OPG RANKL levels determined correlations BMD. T-score BMD too. Results: 31.1% had osteoporosis 21.6 % osteopenia. found a OPG-BMD (r=-0.768, p=0.000 RANKL-BMD (r=0.468; p=0.000). OPG-T-score (r=0.729. p=0.000) Rankl-T-score r=-0.409; Conclusion: should be consider as main factor responsible for osteoclast activation.

Language: Английский

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Correlation of OPG/RANKL in patients with thalassemia major at the center of Haemoglobinopathy Lushnje, Albania

European Scientific Journal ESJ, Journal Year: 2024, Volume and Issue: 20(18), P. 13 - 13

Published: June 30, 2024

Osteoporosis is an important cause of morbidity in hemoglobinopathy patients. It characterized by low bone mass and disruption architecture, resulting reduced strength increased risk fractures. Osteoprotegerin (OPG) receptor activator NF-kappa-B ligand (RANKL) have recently been implicated the pathogenesis various types osteoporosis. Our study aimed to determine correlation between OPG/RANKL patients affected thalassemia major at Center Hemoglobinopathy Lushnje. Methods: We measured serum OPG RANKL levels 70 with Thalassemia 67 healthy controls, determining correlations BMD. Results: Serum were significantly lower thalassemic compared control group. higher β-thalassemia controls. 31.1% our had osteoporosis 21.6 % osteopenia. found a OPG-BMD (r=-0.768, p=0.000, RANKL-BMD (r=0.468; p=0.000). Conclusion: should be considered as main factors responsible for osteoclast activation.

Language: Английский

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Bone Quality is Associated with Fragility Fracture in Patients with Hemoglobinopathies

medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Nov. 13, 2024

ABSTRACT Background Low bone mass is common in adults with thalassemia (Thal) and sickle cell disease (SCD), though disease-specific artifacts may contribute to inaccuracies mineral density (BMD) assessment. Trabecular score (TBS), an indicator of quality, not susceptible these challenges improve fracture risk prediction. Methods A retrospective chart review was conducted patients Thal or SCD who had at least one spine BMD scan by DXA performed the past 10 years. The most recent reanalyzed for quality using TBS Insight (Medimaps v 3.0.2) abnormal defined as <1.20. Fracture prevalence determined patient report medical record validation. Patients were compared healthy controls participated previous research. Results Data abstracted from 126 (31.7±11.9 yrs, 51% Male), 170 (24.6±13.5 43% 64 (25.9±8.0 17% Male). observed 63% 36% 3% (p<0.001); while only 15% TBS. History present 35.6% 22.9% SCD; which 15.7% fragility fractures. After adjusting age hypogonadism, low associated increased overall (OR: 1.8, 95% CI: 1.03, 3.23; p=0.041), but fracture. In contrast, strongly after adjustment age, sex, BMI 11.4, 2.2, 59.1, p=0.004). Conclusions Bone be a valuable tool predicting fractures young hemoglobinopathies should considered when making decisions anti-resorptive therapy those naive where complicate accurate assessment alone.

Language: Английский

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Understanding Pediatric Hemoglobinopathies: Epidemiology, Genetics, and Management Strategies

Scholars Academic Journal of Pharmacy, Journal Year: 2024, Volume and Issue: 13(04), P. 104 - 110

Published: April 22, 2024

Children's hemoglobinopathies, such as thalassemias and sickle cell disease (SCD), present a diverse range of symptoms complex genetic causes, which provide significant challenges for therapy. This website provides comprehensive information on the genetics, prevalence, many treatment options available baby hemoglobinopathies. Research in global epidemiology suggests that individuals suffer from array ailments. Therefore, it is crucial to prioritize targeted screening programs medicines. Understanding fundamental concepts basic autosomal recessive inheritance patterns specific gene mutations, developing precise diagnostic tools personalized strategies. Comprehensive management strategies encompass several approaches providing supportive care, utilizing pharmaceutical therapy, implementing advanced techniques like therapy treating disorders. Due continuous research enhances our comprehension we should expect improved results an enhanced standard living affected by them. The purpose this study enhance pediatric hemoglobinopathies approach gathering perspectives epidemiology, clinical practice.

Language: Английский

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