Background: β-thalassemia is the most common single gene disorder worldwide, in which hemoglobin β-chain production is decreased. Today, the life expectancy of thalassemic patients is increased because of a variety of treatment methods. However, osteoporosis and cardiac dysfunction remain frequent complications.
Objective and hypotheses: The aim of the study, was to analyze the diagnostic and prognostic role of ferritin for endocrinopathies and metabolic disorders in βT patients.
Method: This is a prospective study of previously chelated patients, and new patients followed at the pediatric hospital day since March 2010. Seventy-six βT patients were treated with different regimen of cheation. Sixty-three are under Deferasirox chelation. Data recorded included age, gender, haemoglobin and ferritin levels, biochemical and endocrine tests, liver, transfusion regimen, iron chelation, splenectomy, and bone mineralization by dual X-ray absorptiometry. The package of measures was made in a standard confidence interval of 95% and standard error consented risk is 5%.
Results: Thirty-seven (46.1%) males and 33 (53.9%) females were studied, with mean age of 106,57 months, mean haemoglobin 9.2±1.5 g/dL, median ferritin 895.40 ± 494.8; forty nine patients 49 had been transfused, occasionally (27/76, 35.5%); 19/76 patients had been splenectomized (25%); 63(83%) were on chelation therapy. Endocrinopathies were found in 10 patients: 08 hypogonadism, and one diabetes. Bone disease was observed in (14%) patients, osteoporosis in 3 /76 (7.9%), and osteopenia in 1/76 (1.5%). One fracture, six bone deformities and a hotbed of extra medullary hématopoeise, were objectived.
Conclusion: Iron chelation therapy in adequate dosage, early diagnosis and treatment of endocrine insufficiency and regular blood transfusions can help to achieve an optimal endocrine function.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology