Thalassemia Majors (Beta-Thalassemia Major)
Conditions
Brief summary
Thalassemia major is a hereditary hemoglobinopathy characterized by ineffective erythropoiesis and severe anemia, necessitating lifelong blood transfusions(1,2). Regular transfusions lead to iron overload, a primary driver of growth retardation in affected children. Iron accumulation in tissues like the pituitary and liver disrupts growth hormone secretion and insulin-like growth factor-1 production.
Interventions
No therapeutic intervention is applied. The study involves only observational assessment of clinical history, anthropometric measurements, laboratory investigations, and growth parameters in thalassemic children. This distinguishes it from interventional studies.
Sponsors
Study design
Eligibility
Inclusion criteria
* Children aged 1 to 18 years diagnosed with β-thalassemia major based on hemoglobin electrophoresis or high-performance liquid chromatography (HPLC). * Receiving regular blood transfusions as part of standard management at AUCH. * Attending the hematology unit for at least one year prior to enrollment.
Exclusion criteria
* • Children with other types of thalassemia. * Presence of congenital diseases, chronic illnesses other than thalassemia (e.g., malignancy, tuberculosis, chronic hepatitis, congenital heart disease, chronic renal failure, epilepsy, diabetes mellitus), or primary endocrinopathies. * Patients with other causes of short stature, such as hereditary bone dysplasia or systemic disorders.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Growth parameters: Z-scores for height-for-age, weight-for-age, BMI-for-age | 1 year |