THPO gene variants in patients with acquired aplastic anemia

Author(s)

Padilha, Pedro Henrique ; Borges, Gustavo ; Santana, Barbara Amelia ; Medeiros, Larissa Alessandra ; Nabhan, Samir Kanaan ; Pasquini, Ricardo ; Donaires, Flavia Sacilotto ; Calado, Rodrigo Tocantins

• Document type: Journal article
• Source: Hematology, Transfusion and Cell Therapy; v. 40, n. 4, p. 4-pg., 2018-10-01.

Abstract

Background: 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. Methods: 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. Results: 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. Conclusion: The presence of THPO polymorphisms is comparable between patients with acquired aplastic anemia and healthy individuals. (C) 2018 Associacao Brasileira de Hematologia, Hemoterapia e Terapia Celular. Published by Elsevier Editora Ltda. (AU)

• FAPESP's process: 13/08135-2 - CTC - Center for Cell-Based Therapy
• Grantee: Dimas Tadeu Covas
• Support Opportunities: Research Grants - Research, Innovation and Dissemination Centers - RIDC
• FAPESP's process: 17/09428-4 - Clonal hematopoiesis in patients with telomeric dysfunction
• Grantee: Flávia Sacilotto Donaires Ramos
• Support Opportunities: Scholarships in Brazil - Post-Doctoral