A Silent Hemolysis Behind a Failing Heart: Hereditary Spherocytosis Associated With SLC4A1 Mutation Presenting With Secondary Hemosiderosis and Acute Decompensated Heart Failure

Abstract

Hereditary spherocytosis (HS) is an inherited hemolytic anemia that usually presents with anemia, jaundice, and splenomegaly, but atypical presentations like heart failure may delay diagnosis. A 67-year-old man presented with progressive breathlessness, frothy cough, bilateral leg swelling, and a history of recurrent jaundice. Examination showed pallor, icterus, tachypnea, bilateral pitting edema, and basal crepitations. Initial hemogram showed anemia with leukocytosis, macrocytosis, elevated mean corpuscular hemoglobin concentration, and mild thrombocytopenia. Electrocardiography revealed complete heart block, and echocardiography showed global hypokinesia with reduced ejection fraction. Hemolysis workup demonstrated a negative direct Coombs test, a positive osmotic fragility test, normal thyroid function, and marked hyperferritinemia with elevated transferrin saturation. Subsequent cardiac magnetic resonance imaging (MRI) showed preserved myocardial iron with recovered ventricular function, while liver iron quantification demonstrated moderate hepatic iron overload. Genetic analysis identified a homozygous SLC4A1 variant. With this, a diagnosis of HS with secondary hemosiderosis presenting as acute decompensated heart failure was made. The patient improved with supportive management and follow-up evaluation. This case highlights the value of sequential hematologic, cardiac, radiologic, and genetic assessment in adults with unexplained hemolysis.