Unique case study of HbS-β* thalassemia presenting as multifocal emphysematous osteomyelitis and life-threatening E. coli septicemiasepticemia

Introduction: Sickle beta-thalassemia (S/β- thalassemia) is a compound heterozygous hemoglobinopathy with clinical manifestations influenced by the type of beta-thalassemia gene inherited. Sickle beta-thalassemia has a variable prevalence globally, ranging from 0.1% to 0.3% in certain Indian populations and higher rates in Mediterranean and African regions. Although osteomyelitis is a known complication in hemoglobinopathies, emphysematous osteomyelitis (EO)—a gas-forming, life-threatening infection—is exceptionally rare, particularly with Escherichia coli as the causative organism. Case Report: Emphysematous Osteomyelitis commonly presents with localized bone pain, swelling, high-grade fever, and signs of systemic sepsis. Imaging typically reveals gas within the bone. A 32-year-old Asian male with a known history of sickle β-thalassemia major presented with high-grade fever, abdominal pain, and back pain. Previously treated for E. coli septicemia and subacute appendicitis, he showed persistent symptoms despite antibiotics. Imaging revealed multifocal EO involving the clavicles, sacrum, and shoulder joint. Bone biopsy confirmed E. coli infection. Hemoglobin electrophoresis (HPLC) confirmed sickle β-thalassemia major. Management included broad-spectrum intravenous (IV) antibiotics (imipenem, teicoplanin, polymyxin B), empirical antifungal therapy, hydroxyurea, and red blood cell exchange transfusion to reduce HbS below 30%. The patient showed clinical improvement and was discharged with a 6-week antibiotic regimen. Conclusion: This is the first documented case of multifocal E. coli-induced emphysematous osteomyelitis in a patient with sickle β-thalassemia major. The case underscores the importance of early diagnosis through magnetic resonance imaging (MRI) and positron emission tomography-computed tomography (PET-CT), aggressive antimicrobial therapy, and hematologic optimization via exchange transfusion. Clinicians should consider atypical pathogens like E. coli in hemoglobinopathy-related infections for timely and effective intervention.