Bone Disease in Β‐thalassaemia Major

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

“…Vitamin C deficiency in iron-overloaded patients, is seen with increases the risk of osteoporotic fractures at the level of ephysial lines (Wonke, 1998). Vitamin D deficiency (although it is not reported in all studies in thalassemic patients) is also implicated in the pathogenesis of osteoporosis in TM patients due to the regulatory effect of vitamin D in both osteoclasts and osteoblasts.…”

“…They say that the low bone mass in TM patients is associated with reduced physical activity due to complications of the disease and overprotective parents, who do not encourage muscle activity (Haidar et al, 2011). However, bone disease management in these patients now includes increased physical activity (Rund & Rachmilewitz, 2005;Haidar et al, 2011;Wonke, 1998;Toumba & Skordis, 2010). What must not forget is that there is some conditions requiring special attention in recommending physical activity like severe heart disease , splenomegaly, and osteoporosis (Galanello & Origa, 2010).…”

“…Peculiar mongoloid appearance, caused by enlargement of the cranial and facial bones, combined with skin discoloration, anemia, splenomegaly and some enlargement of the liver were included in the first description of thalassemia by Cooley & Lee (Wonke, 1998). Galanello & Origa explain Skeletal changes include typical craniofacial changes such as bossing of the skull, prominent malar eminence, depression of the bridge of the nose, tendency for a mongoloid slant of the eye, and hypertrophy of the maxillae, which tend to expose the upper teeth (Galanello & Origa, 2010).…”

“…The commonest sites for extramedullary hematopoiesis are the spleen, liver and chest; less common sites are paravertebral masses and brain lesions. As the ribs contain hematopoietic marrow at all ages, overactive marrow results in, osteoporosis of the ribs, localized lucencies, cortical erosions, and 'rib within rib' deformities (Wonke, 1998). Mechanical interruption of bone formation, leading to cortical thinning, increased distortion and fragility of the bones, occurs due to Marrow expansion (Voskaridou & Terpos, 2004).…”

“…Wonke et al, described the role of desferrioxamine in osteoporosis of thalassemic patients as follows: Desferrioxamine inhibits DNA synthesis, fibroblast proliferation and collagen formation, and may also cause zinc deficiency. Growth arrest and a reduction in growth velocity, difficulty in walking, frequently complain of pain in the hips and lower back is seen in patients who receive inappropriately high doses of desferrioxamine, specially when the iron burden is low, (Wonke, 1998).…”