Inherited delta–beta thalassemia with autoimmune hemolysis: a familial case report

Abstract Delta–beta (δβ) thalassemia is a rare hemoglobin disorder characterized by reduced δ- and β-globin chain synthesis and compensatory elevation of fetal hemoglobin (HbF). Heterozygotes are usually asymptomatic, whereas homozygotes present with moderate to severe anemia. When coexisting with autoimmune hemolytic anemia (AIHA), the clinical severity increases substantially. We report a 9-year-old female with lifelong underlying δβ-thalassemia who presented with acute worsening of anemia over 2 months due to superimposed autoimmune hemolysis. She had severe anemia (Hb: 5.1 g/dL), anisopoikilocytosis, polychromasia, schistocytes, nucleated red blood cells, and indirect hyperbilirubinemia. Although mean corpuscular volume was 81 fL (borderline normocytic), iron studies and smear morphology supported a diagnosis of hemolytic anemia with thalassemic indices. High-performance liquid chromatography (HPLC) showed markedly elevated HbF and reduced hemoglobin A₂, consistent with δβ-thalassemia. The direct and indirect Coombs tests were strongly positive, confirming the diagnosis of AIHA. Family screening revealed both parents as heterozygous carriers. This case highlights the coexistence of homozygous δβ-thalassemia with autoimmune hemolysis, a combination that can mask classical thalassemia features and complicate diagnosis. Early HPLC screening, family studies, and autoimmune evaluation are essential for appropriate management and genetic counseling.