Genetic and Clinical Interplay in Hematologic Disorders: A Case Study on Overlapping Anemia Etiologies
Year: 2024
Type: article
Study design: Case Report
Abstract: 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.
Author: Ali Torabi
Institution: Selçuk University
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4406990102