Title of article
Targeted Next Generation Sequencing (NGS) to Diagnose Hereditary Hemolytic Anemias
Author/Authors
Bharadwaj, Rishab Department of Paediatric Hematology/Oncology - Kanchi Kamakoti CHILDS Trust Hospital, India , Raman, Thulasi Department of Pathology - Kanchi Kamakoti CHILDS Trust Hospital, Chennai, India , Thangadorai, Ravikumar Department of Pediatrics - Kanchi Kamakoti CHILDS Trust Hospital, Chennai, India , Munirathnam, Deenadayalan Department of Paediatric Hematology/Oncology - Kanchi Kamakoti CHILDS Trust Hospital, India
Pages
4
From page
177
To page
180
Abstract
Hereditary hemolytic anemias present a unique diagnostic challenge due to their wide phenotypic and genotypic spectrum. Accurate diagnosis is essential to ensure appropriate treatment. We report two cases, which presented as hemolytic anemias, but initial workup was inconclusive and they were finally diagnosed with the help of Next Generation Sequencing (Dehydrated Hereditary Stomatocytosis and Kӧln Hemoglobinopathy). The introduction of gene sequencing to aid diagnosis of these disorders is a revolutionary step forward and should be incorporated earlier in the workup of such patients.
Keywords
Hereditary hemolytic anemia , Dehydrated Hereditary Stomatocytosis , Kӧln hemoglobinopathy , Targeted Next Generation Sequencing
Journal title
International Journal of Hematology-Oncology and Stem Cell Research (IJHOSCR)
Serial Year
2020
Record number
2630799
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