الفهرس 
ThalassemiaOnly 14 pages are availabe for public view
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Abstract
Thallasemia is the most common monogenetic disease worldwide. It is a group of inherited disorders of hemoglobin synthesis. In β thalassemia, mutations of the β globin gene lead to various degrees of defective β chain production, an imbalance in globin chain synthesis, ineffective erythropoiesis and anemia .
Β-thalassemia major (TM) refers to those patients characterized by profound anemia and present to medical attention in the first year of life and subsequently require regular blood transfusions for survival. However, blood transfusions don’t come without their own side effect as iron overload inevitably manifests resulting in multiple organ damage involving the heart, liver, and endocrine glands .
The introduction of safe blood transfusion practices and iron chelation therapy surely translated into prolonged survival and enhanced quality of life. The increased life span for patients with TM allowed for several morbidities of the disease and its treatment to appear, amongst which is bone disease .
Spectrum of bone abnormalities including osteopenia, osteoporosis, pain, fractures and spinal complications represent prominent causes of morbidity in children and adults of both gender.
Biochemical turnover markers (BTMs) are considered a useful, non-invasive tool that can be measured in blood or urine for the clinical follow-up of osteoporotic patients. These markers can provide a dynamic view of the remodeling process and give information on the metabolic activity of bone tissue as well as on the pathogenesis of bone loss .
The amino-terminal pro-peptide of type I procollagen (P1NP), is a recently introduced marker that is considered the most sensitive index of bone formation in patients with bone disease of varying origins .
In patients with TM-associated osteoporosis, circulating P1NP has several functional advantages as it can reflect bone metabolic process and promptly respond to antiosteoporotic treatment. It has been recommended by the Bone Marker Standards Working Group, as baseline measurement which is useful to monitor bone forming agent and monitoring patients during treatment and aid in the decision as to when therapy should be recommenced .
BMD measurement with dual X-ray absorptiometry (DEXA) has been widely used for defining the degree of bone loss in β-thalassemia. Pediatric Spine Software was used, lumber spine was chosen as the most affected area where in TM increased erythropoiesis occurs mainly in the axial skeleton .