الفهرس 
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Abstract
Thalassemia syndromes are a heterogeneous group of inherited anemias characterized by defects in the synthesis of one or more globin chain subunits of the adult hemoglobin tetramer this leads to deficient hemoglobin accumulation, resulting in hypochromic microcytic red cells, ineffective erythroposiesis and hemolytic anemia. It is inherited as an autosomal recessive disorder.
Beta-thalassemia major is a chronic disorder , having an extensive impact on life and presenting with hemolytic anemia, growth retardation, hepato-splenomegaly and skeletal abnormalities. It often requires regular blood transfusions, iron chelation therapy and sometimes splenectomy for its management.
In β-thalassemia major there is under production of β-globin chains combined with excess of free α-globin chains. The excess free α-globin chains damage the red blood cells (RBCs) membrane leading to their destruction and ineffective erythopoiesis.
Vitamin D is a fat soluble vitamin responsible for intestinal absorption of calcium and phosphate, maintaining calcium and phosphate levels for bone formation, and allowing proper functioning of parathyroid hormone to maintain serum calcium levels.
Vitamin D deficiency can result in lower bone mineral density and increased risk for bone deformity and fracture .
Management of patients with thalassemia has improved markedly over the past few decades with the use of optimized transfusion programs and chelating therapy. There has been a considerable improvement in the life expectancy and the quality of life of these patients.
With prolongation in the life expectancy, it has been observed that this hemoglobinopathy is associated with a variety of bone disorders like deformities, bone pains, delayed bone age, growth failure, rickets, scoliosis, spinal deformities, nerve compression, pathologic fractures, osteopenia, and osteoporosis.
Osteopenia or osteoporosis has been reported in approximately 40–50% of well treated thalassemia major patients in different studies and is a major cause of morbidity in these patients.
Despite the increasing awareness about the use of dairy products enriched with vitamin D, vitamin D deficiency and its potential complications remain a health issue in today’s world. In transfusion-dependent thalassemia patients, metabolic needs during the disease and the rise in iron levels following frequent transfusions, along with the high global prevalence of vitamin D deficiency, further increase the prevalence of vitamin D deficiency complications.
The aim of this work was to study plasma levels of 25-hydroxy vitamin D in children and adolescents who are suffering from β-thalassemia major.
This study was carried out on 45 children 2-16 years old, who are diagnosed as beta thalassemia major, and who attend the Outpatient Clinic of Hematology unit at Alexandria University children Hospital for management and follow up. Forty-five age and sex matched normal children will serve as controls.
All patients and controls were subjected to:
• Full history taking including the age at diagnosis, blood transfusions , chelating agents, any complaints of bone aches, fracture…..etc.
• Thorough physical examination with emphasis upon anthropometric measurements e.g; weight, height.
Laboratory investigations:
• Complete Blood picture.
• Hb electrophoresis.
• Serum ferritin level.
• Serum calcium, phosphorus and alkaline phosphatase levels.
• Serum level of 25(OH) Vitamin D by ELISA test.
The results of this study showed the following
The mean body weight and height of patients was significantly lower than that of controls.
Plasma 25-(OH) vitamin D was significantly lower in patient than control groups.
The type of anemia in patients was hypochromic microcytic anemia. There was significant difference in RBCs, Hb, MCV MCHC, platelets and WBCs between patients and controls.
Serum ferritin was significantly higher in patient than control group.
There was no significant difference in serum calcium and phosphorus levels between patients and controls.
Alkaline phosphatase was significantly higher in patient than control.