Endocrine complications in Thalassemia Intermedia / Khaled Tawfik Mohammed Tawfik ; Supervised Ahmed Maher Kaddah , Mostafa Zakaria Mohammed , Rania Ismail Magdy

Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Thalassemias are the most common genetic disorder on a worldwide basis. Ý-thalassemia is a severe hemolytic anemia which results from genetic defects in the synthesis of the hemoglobin Ý-chain. Various endocrine abnormalities have been described in patients with thalassemia major. Endocrine disturbances have also been observed in patients with thalassemia intermedia (TI). In this study endocrine functions were investigated in TI and here the frequency of different abnormalities is reported. Sixty patients (34 males, 26 females) with thalassemia intermedia, 11-18 years old (mean 13.98 yr) were studied. Medical history was obtained and a complete physical examination was done for each patient. The age, sex, age of initiation of blood transfusion and its regular or irregular administration, age of initiation of iron chelating agent and its compliance and serum ferritin levels were recorded using a questionnaire. Height, weight, sitting height and BMI were measured. Puberty was assessed using tanner staging system. OGTT, fasting, postprandial serum insulin, thyrotropin (TSH), free T4, total calcium, phosphorus, alkaline phosphatse and parathyroid hormone (PTH) were determined in these patients. The mean ± Standard Deviation (SD) serum ferritin level was 1501.7±524.16 og/L. Mean ± SD hemoglobin concentration was 7.4±1.22g/dl. Short stature was present in 46.7% of patients. Delayed puberty was present in 8.33% of patients, arrested puberty was observed in 15% of patients. Impaired glucose tolerance was observed in 11.66% and diabetes mellitus (DM) in 1.67% of patients. Hypothyroidism was observed in 23.33% of patients and only one patient (1.67%) had primary hypothyroidism. Hypoparathyroidism was found in one patient (1.67%)

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