Case Report: Targeted Next Generation Sequencing (NGS) to Diagnose Hereditary Hemolytic Anemias

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Bharadwaj Rishab; Raman Thulasi; Thangadorai Ravikumar; Munirathnam Deenadayalan

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Paper Information

Journal: International Journal of Hematology-Oncology and Stem Cell Research Year:2020 | Volume:14 | Issue:3 Page(s): 177-180

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Title

Case Report: Targeted Next Generation Sequencing (NGS) to Diagnose Hereditary Hemolytic Anemias

Author(s)

Bharadwaj Rishab | Raman Thulasi | Thangadorai Ravikumar | Munirathnam Deenadayalan | Issue Writer Certificate

Keywords

Hereditary hemolytic anemia

Dehydrated Hereditary Stomatocytosis

Kӧ

ln hemoglobinopathy

Targeted Next Generation Sequencing

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 Kӧ; ln 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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APA: Copy

Bharadwaj, Rishab, Raman, Thulasi, Thangadorai, Ravikumar, & Munirathnam, Deenadayalan. (2020). Case Report: Targeted Next Generation Sequencing (NGS) to Diagnose Hereditary Hemolytic Anemias. INTERNATIONAL JOURNAL OF HEMATOLOGY-ONCOLOGY AND STEM CELL RESEARCH (IJHOSCR), 14(3), 177-180. SID. https://sid.ir/paper/775131/en

Vancouver: Copy

Bharadwaj Rishab, Raman Thulasi, Thangadorai Ravikumar, Munirathnam Deenadayalan. Case Report: Targeted Next Generation Sequencing (NGS) to Diagnose Hereditary Hemolytic Anemias. INTERNATIONAL JOURNAL OF HEMATOLOGY-ONCOLOGY AND STEM CELL RESEARCH (IJHOSCR)[Internet]. 2020;14(3):177-180. Available from: https://sid.ir/paper/775131/en

IEEE: Copy

Rishab Bharadwaj, Thulasi Raman, Ravikumar Thangadorai, and Deenadayalan Munirathnam, “Case Report: Targeted Next Generation Sequencing (NGS) to Diagnose Hereditary Hemolytic Anemias,” INTERNATIONAL JOURNAL OF HEMATOLOGY-ONCOLOGY AND STEM CELL RESEARCH (IJHOSCR), vol. 14, no. 3, pp. 177–180, 2020, [Online]. Available: https://sid.ir/paper/775131/en

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