Compound Heterozygous Sickle Cell-Beta Thalassemia Presenting As Chronic Hemolytic Anemia With Microcytosis and...

Sickle cell-beta thalassemia, a compound heterozygous hemoglobinopathy, can be difficult to diagnose because clinical features and laboratory findings often overlap with other hematological disorders. We report a 26-year-old man from Assam who presented with eight days of progressive jaundice. Further evaluation revealed chronic hemolysis that had gone undiagnosed for years. He also reported one week of abdominal distension and generalized weakness. Clinical examination revealed pallor, icterus, and moderate splenomegaly. Laboratory evaluation demonstrated anemia (hemoglobin 6.3-7.9 g/dL), microcytosis, elevated lactate dehydrogenase, indirect hyperbilirubinemia, low serum haptoglobin, moderate splenomegaly and reticulocytosis, consistent with ongoing hemolysis. The direct Coombs test was negative, ruling out immune-mediated hemolysis. Infectious causes, including chronic malaria, were excluded, and serological tests for HIV, hepatitis B, and hepatitis C were negative. Blood and urine cultures showed no growth. Glucose-6-phosphate dehydrogenase (G6PD) levels and iron studies were within normal limits, excluding enzymopathy and iron deficiency. Hemoglobin analysis revealed hemoglobin S (HbS) 73.1%, fetal hemoglobin (HbF) 15%, hemoglobin A2 (HbA2) 6.3%, and reduced hemoglobin A (HbA), consistent with compound heterozygous sickle cell-beta thalassemia. Echocardiography demonstrated prominent left ventricular apical trabeculations, likely representing adaptive cardiac remodeling in response to a chronic high-output state. This case illustrates how systematic workup can identify compound hemoglobinopathies in patients with atypical presentations. The finding of HbS-β thalassemia in a patient from Assam is epidemiologically significant, as this compound hemoglobinopathy is extremely rare in this region, where HbE variants predominate. The cardiac findings might reflect cardiovascular changes from chronic, untreated anemia.