Targeted Next Generation Sequencing (NGS) to Diagnose Hereditary Hemolytic Anemias
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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.
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6. Shefer Averbuch N, Steinberg Shemer O, Dgany O, et al. Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias. Eur J Haematol. 2018; 101(3):297-304.
2. Layton DM, Bain BJ. Dehydrated hereditary stomatocytosis. Am J Hematol. 2016; 91(2):266.
3. Bae C, Gnanasambandam R, Nicolai C, et al. Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1. Proc Natl Acad Sci U S A. 2013; 110(12):E1162-1168.
4. Pscheidt S, Pereima IM, Roberge MB, et al. Köln's unstable hemoglobin: case report and literature review. J Bras Patol Med Lab. 2003; 39(1):37-40.
5. Miller DR, Weed RI, Stamatoyannopoulos G, et al. Hemoglobin Köln disease occurring as a fresh mutation: erythrocyte metabolism and survival. Blood. 1971; 38(6):715-29.
6. Shefer Averbuch N, Steinberg Shemer O, Dgany O, et al. Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias. Eur J Haematol. 2018; 101(3):297-304.
| Files | ||
| Issue | Vol 14, No 3 (2020) | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/ijhoscr.v14i3.3726 | |
| Keywords | ||
| Hereditary hemolytic anemia; Dehydrated Hereditary Stomatocytosis; Kӧln hemoglobinopathy; Targeted Next Generation Sequencing | ||
| Rights and permissions | |
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Bharadwaj R, Raman T, Thangadorai R, Munirathnam D. Targeted Next Generation Sequencing (NGS) to Diagnose Hereditary Hemolytic Anemias. Int J Hematol Oncol Stem Cell Res. 2020;14(3):177-180.
