Severe Thalassemia Bone Disease in a Young Woman with Transfusion-Dependent β-Thalassemia Major: Erlenmeyer Flask Deformity, Muscular Hemosiderin Deposition, and Profound Osteoporosis — A Case Report

Abstract

Introduction: Beta-thalassemia major (β-TM) is a chronic transfusion-dependent hemolytic disorder in which thalassemia bone disease (TBD) is among the most frequent and least resolved long-term complications, driven by ineffective erythropoiesis with marrow expansion, iron-overload toxicity, and endocrine and nutritional deficiencies.

Case Presentation: We report a 27-year-old woman with β-TM diagnosed at the age of two years and a long history of iron overload, who presented with severe, movement-limiting pain of the right lower limb that had been intermittent since 2019 and acutely worsened over the preceding month. She had a documented hypersensitivity to deferasirox and was maintained on deferiprone. Examination revealed clinical anemia, hepatosplenomegaly, and a spontaneously painful, immobile right lower limb. Investigations confirmed hypochromic microcytic anemia (hemoglobin 5 g/dL), elevated ferritin, and low calcium and vitamin D levels. Pelvic radiography showed diffuse osteopenia; femoral radiography showed widening of the medullary cavity with an Erlenmeyer flask deformity; and magnetic resonance imaging revealed extensive hemosiderin deposition throughout the visualized bone and within the right rectus femoris muscle. Dual-energy X-ray absorptiometry showed a lowest Z-score of −3.5 at the left forearm, confirming profound, below-expected bone mineral density for age.

Conclusion: This case highlights the diagnostic and therapeutic complexity of advanced TBD — structural deformity, soft-tissue iron deposition, and profound osteoporosis compounded by chelation-limited iron control — and underscores the necessity of an urgent, individualized, multidisciplinary approach.