Genetic and Clinical Interplay in Hematologic Disorders: A Case Study on Overlapping Anemia Etiologies

Diagnosing patients with overlapping cytopenias requires a nuanced approach, particularly when clinical and genetic findings intersect. This case study explores a 22-year-old female presenting with anemia, thrombocytopenia, and bleeding tendencies. Comprehensive genetic analysis revealed a heterozygous CD36 variant contributing to macrothrombocytopenia and a delta-beta thalassemia-associated HBB variant. While the HBB heterozygous variant influences anemia profiling, it does not fully explain the severity observed.