Guideline for the Diagnosis and Management of Growth and Puberty Disorders in Patients with Transfusion-Dependent Thalassemia
Introduction:
Thalassemia, particularly α and β types, are characterized by mutations causing varied clinical manifestations such as anemia, skeletal deformities, and iron accumulation. Patients with transfusion-dependent thalassemia (TDTs) often face growth and puberty complications, which are influenced by the disease’s type and severity. These disruptions not only result from chronic anemia, iron chelation therapy, and endocrinopathies but also significantly impact the patient’s quality of life.
A comprehensive guideline was formulated through a systematic literature review and stakeholder engagements. The protocol emphasizes diagnosing and managing growth and puberty disorders in TDT patients, integrating consistent monitoring, documentation, and patient-specific assessments.
The guideline proposes a detailed monitoring schedule from birth to adulthood, focusing on growth velocity norms and referral criteria to pediatric endocrinologists. It outlines protocols for hormone treatments in cases of delayed or arrested puberty, with distinctions for boys and girls. The treatment approach is multidisciplinary, combining growth monitoring, hormone therapy, and potential surgical interventions. The complexities demand continuous management, with treatment plans tailored to individual patient needs.
The research provides a pivotal national protocol for addressing growth and puberty anomalies in TDT patients, aiming to enhance their well-being and standardize care. The emphasis on proactive, individualized strategies will bolster healthcare outcomes and reduce associated costs.
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