Screening of mutations related to hereditary anemias using NGS-Targeted sequencing panel

• Grant number: 15/18574-9
• Support Opportunities: Scholarships in Brazil - Post-Doctoral
• Start date: September 01, 2016
• End date: October 31, 2020
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Sara Teresinha Olalla Saad
• Grantee: Maria Carolina Costa Melo Svidnicki
• Host Institution: Centro de Hematologia e Hemoterapia (HEMOCENTRO). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
• Associated research grant: 17/21801-2 - Predictors of severity and new treatments for bone marrow neoplasias, AP.TEM

Abstract

Genetic defects in erythrocytes can result from a variety of different mutations that affect structural proteins of the cell, synthesis of the globin chains, or the expression of intracellular enzymes. These disturbances can result in hemolytic anemia, which is characterized by the reduction of the red blood cell survival. Diseases that result in hemolytic anemia are difficult to diagnose, due to the large clinical and genetic heterogeneity. Abnormalities in the form of erythrocytes on peripheral blood smears, detection of reduction of enzymatic activity and specific identification of mutations in target genes often provide clues to the clinical diagnosis of the underlying disease. The use of conventional techniques for the systematic screening of each gene is impractical due to high costs and time consuming, then this project proposes the development of a NGS (New Generation Sequencing) Targeted Sequencing panel for the molecular diagnosis and study of patients with hereditary hemolytic anemias and congenital dyserythropoetic anemias (CDAs). Thirty-four patients with hereditary anemias will participate. These patients had been previously screened by conventional techniques and remained with molecular diagnostics unclear. The panel to be developed enable screening of a large number of genes related to enzymatic membrane disease and erythrocytes as well as CDAs, optimizing the time and cost in the genetic diagnosis of these conditions. In addition to the direct contribution in the diagnosis, this study will bring scientific advances to the hematology community and researchers, allowing, for the first time, a broad genetic approach in a group of Brazilian patients with hereditary anemias. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

COSTA MELO SVIDNICKI, MARIA CAROLINA; FERREIRA FILHO, MOISES ALVES; BRANDAO, MARCELO MENDES; DOS SANTOS, MARIELZA; DIAS, RENATA DE OLIVEIRA; TAVARES, RENATO SAMPAIO; ASSIS-MENDONCA, GUILHERME ROSSI; TRAINA, FABIOLA; OLALLA SAAD, SARA TERESINHA. New germline GATA1 variant in females with anemia and thrombocytopenia. BLOOD CELLS MOLECULES AND DISEASES, v. 88, MAY 2021. (17/21801-2, 15/18574-9, 11/51959-0)