Description of a Case Series of Genetic Thrombocytopenia Diagnosed in a Hematology Service of a Reference Hospital in Bogotá, Colombia Between 2000-2021 and a Narrative Review of Literature
DOI:
https://doi.org/10.17533/udea.iatreia.310Keywords:
Genetic, Platelets, ThrombocytopeniaAbstract
Introduction: Genetic thrombocytopenias (GT) are a group of diseases classically considered very rare, associated with severe bleeding, and restricted to the pediatric population.
Objective: Describe the genetic thrombocytopenia cases treated in the hematology service of a reference hospital in Bogotá, Colombia during 2000 and 2021.
Methods and materials: A retrospective descriptive case series study of patients diagnosed with GT. A univariate descriptive analysis of the data was performed: absolute frequencies, proportions, mean, median and relevant data were plotted.
Results: A total of six cases with mutations in six genes were associated with GT. The 83% of these were of female sex. The median platelet count at diagnosis was 30 x109/L, bleeding phenotype was absent or mild in 50% of the cases as was the presence of large platelets. The median time of delay to the specific diagnosis was 13 years, the initial diagnosis was primary immune thrombocytopenia in half of the cases. One of the identified mutations is associated with myeloid neoplasms.
Conclusions: GT can be diagnosed in an adult population, half of the cases had a non-severe bleeding phenotype. A prompt diagnosis has an impact in terms of exposition to possible toxic treatments and prognosis.
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