Closed Pathological Femoral Fracture in a Patient with Thalasemia: A Rare Case Report

Abstract

Thalassemia is a hereditary hematologic disorder that impairs hemoglobin synthesis, often leading to chronic anemia with skeletal complications such as bone marrow expansion and osteoporosis. These changes predispose patients to pathological fractures, although distal femur involvement remains rare and challenging to treat. A 23-year-old male with a known history of thalassemia presented to the orthopedic outpatient clinic of Soeharso Orthopedic Hospital with left thigh pain following a minor fall from bed. The patient was diagnosed with thalassemia at six years old and has received regular blood transfusions twice monthly. He underwent splenectomy in May 2023 and is currently taking folic acid and deferasirox 250 mg (four tablets daily). Thalassemia-associated bone fragility arises from multiple factors including hormonal imbalance (hypogonadism, growth hormone deficiency), iron overload with endocrine dysfunction and disrupted calcium metabolism, as well as decreased physical activity contributing to disuse osteoporosis. The distal femur is particularly difficult to manage due to poor bone quality and high mechanical load, complicating fixation and healing. This case highlights that even minor trauma can result in pathological fractures in thalassemia due to combined effects of hormonal disturbance, iron overload, and reduced activity leading to severe bone fragility.