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

Ali Torabi, Zeynal Sütkurt, Feyza Mermer, Ebru Marzioğlu Özdemir and Özkan Bağcı
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Zeynal Sütkurt: Medical Genetics Research Associate, University of Selcuk, Faculty of Medicine, Department of Medical Genetics, Turkey
Feyza Mermer: Medical Genetics Research Associate, University of Selcuk, Faculty of Medicine, Department of Medical Genetics, Turkey
Özkan Bağcı: Assistant Professor, University of Selcuk, Faculty of Medicine, Department of Medical Genetics, Turkey

Biomedical Journal of Scientific & Technical Research, 2024, vol. 60, issue 1, 52094-52099

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, thrombocy- topenia, and bleeding tendencies. Comprehensive genetic analysis revealed a heterozygous CD36 variant con- tributing to macrothrombocytopenia and a delta-beta thalassemia-associated HBB variant. While the HBB hete- rozygous variant influences anemia profiling, it does not fully explain the severity observed.

Keywords: Journals on Medical Drug and Therapeutics; Journals on Emergency Medicine; Physical Medicine and Rehabilitation; Journals on Infectious Diseases Addiction Science and Clinical Pathology; Open Access Clinical and Medical Journal; Journals on Biomedical Science; List of Open Access Medical Journal; Journals on Biomedical Engineering; Open Access Medical Journal; Biomedical Science Articles; Journal of Scientific and Technical Research (search for similar items in EconPapers)
Date: 2024
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Persistent link: https://EconPapers.repec.org/RePEc:abf:journl:v:60:y:2024:i:1:p:52094-52099

DOI: 10.26717/BJSTR.2024.60.009384

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