THPO gene variants in patients with acquired aplastic anemia

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Hematology, Transfusion and Cell Therapy, ISSN: 2531-1379, Vol: 40, Issue: 4, Page: 339-342

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Pedro Henrique Padilha; Gustavo Borges; Barbara Amélia Santana; Larissa Alessandra Medeiros; Samir Kanaan Nabhan; Ricardo Pasquini; Flavia Sacilotto Donaires; Rodrigo Tocantins Calado
Elsevier BV; Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular (ABHH)
article description
Human aplastic anemia is a hematologic disease characterized by low peripheral blood cell counts associated with reduced numbers of hematopoietic stem and progenitor cells and a hypocellular bone marrow. Thrombopoietin (THPO) regulates megakaryocytes, but it also stimulates hematopoietic stem and progenitor cells. Biallelic mutations in the THPO gene have been reported in a family with recessive inherited aplastic anemia. This study screened 83 patients diagnosed with acquired aplastic anemia and 92 paired healthy controls for germline variants in the THPO gene using Sanger sequencing. Three common single nucleotide polymorphisms were identified in patients and controls at comparable allele frequencies. There was no correlation between the single nucleotide polymorphism carrier status and platelet counts at diagnosis. The presence of THPO polymorphisms is comparable between patients with acquired aplastic anemia and healthy individuals.