Sickle cell β-thalassemia diagnosed at age 40: a case report

Hereditary hemoglobinopathies, including sickle cell disease and thalassemias, affect thousands of newborns annually, predominantly in low-and middle-income countries. Sickle cell β-thalassemia (HbSβ-thal), a form of compound heterozygosity involving β-thalassemia, presents with a wide range of clinical severity depending on the specific mutations. However, the clinical manifestations remain poorly defined. We report the case of a 40-year-old Greek female patient presenting with symptomatic sickle cell β-thalassemia, symptoms of tissue hypoperfusion caused by markedly low hemoglobin levels and notably, bone marrow necrosis. Remarkably, her condition remained undiagnosed until her admission to the emergency department. This case underscores the importance of maintaining a high index of clinical suspicion for the late-onset diagnosis of HbSβ-thal, particularly considering its increased prevalence in certain countries. The successful treatment strategy employed in this case highlights the critical role of individualized care in managing the severe and multifaceted symptoms associated with this genetic disorder, offering valuable insights for clinicians worldwide.