Osteoporosis Syndrome in Thalassaemia Major: An Overview

Abstract

Osteoporosis in thalassaemia major (TM) represents a prominent cause of morbidity. The mechanism of pathogenesis of bone disease (BD) in TM is multifactorial and complicated. Peak bone mass is achieved shortly after completion of puberty and normally remains stable until the third decade of life when age-related bone mass begins. Growth hormone (GH) and sex steroids play a crucial role in bone remodeling and in the maintenance of skeletal architecture during adult life. GH and insulin growth factors (IGFs) have anabolic effect in bone formation. Sex steroids act probably by increasing the expression of RANKL by osteoblastic cells and alterations in the RANK/RANKL/OPG system in favor of osteoclasts. Impaired GH secretion and lack of sex steroids in thalassemic patients due to pituitary damage, contribute to failure of achieving optimal peak bone mass. Other endocrine complications such as hypoparathyroidism and vitamin D deficiency have also a detrimental role on bones in TM. It is still questionable whether the international criteria for defining osteopenia and osteoporosis are relevant to patients with TM; also a question arises for the diagnostic methods such as DEXA scan and management of osteoporosis with known treatment protocols, in the thalassaemic patient.

Causes of Osteoporosis in Pediatric Age Group Patients, Following at King Abdul Aziz University Hospital, Jeddah, Saudi Arabia: 12 Years Experience

“…Sickle cell anemia is the most common hemolytic disease it accounts for 6.1% of the total patient with osteoporosis causes which is considered as the most common among the secondary causes. In contrast, comparing to previous reported study in Nicosia, Cyprus [12], 50% of morbidity from thalassemia major patients suffering from osteoporosis. Patients of our population have found to be thalassemic 3.1% of the total patient with osteoporosis.…”

Iron overload causes osteoporosis in thalassemia major patients through interaction with transient receptor potential vanilloid type 1 (TRPV1) channels

“…[1][2][3][4] The pathogenesis of OP is multifactorial and includes environmental (diet and lifestyle), iatrogenic (drugs), acquired (bone marrow expansion, hemochromatosis, hepatitis, deficiency of growth hormone or insulin growth factor I, and hypogonadism) and genetic factors. [1][2][3][4][5][6][7] The relative contribution of these factors to TM-OP is uncertain, and the role of iron overload and iron chelation therapy is the subject of increasing interest. Interestingly, reports have shown different responses to bisphosphonate treatment between patients with TM and those with thalassemia intermedia: in a prospective study, individuals with TM were shown to have high turnover bone disease and responded more favorably to treatment with pamidronate and hormone replacement therapy, as compared with patients with thalassemia intermedia.…”

What We Learn from Bone Complications in Congenital Diseases? Thalassemia, an Example

“…OPG neutralizes RANK that is essential for osteoclast formation and activation (Morabito et al, 2004). Alteration in the Rank/Rankl/OPG system may favors osteoclasts and osteoporosis formation (Toumba & Skordis, 2010).…”