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targeted next generation sequencing (ngs) to diagnose hereditary hemolytic anemias
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نویسنده
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bharadwaj rishab ,raman thulasi ,thangadorai ravikumar ,munirathnam deenadayalan
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منبع
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international journal of hematology-oncology and stem cell research - 2020 - دوره : 14 - شماره : 3 - صفحه:177 -180
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چکیده
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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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کلیدواژه
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hereditary hemolytic anemia; dehydrated hereditary stomatocytosis; kӧln hemoglobinopathy; targeted next generation sequencing
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آدرس
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kanchi kamakoti childs trust hospital, department of paediatric hematology/oncology, india, kanchi kamakoti childs trust hospital, department of pathology, india, kanchi kamakoti childs trust hospital, department of pediatrics, india, kanchi kamakoti childs trust hospital, department of paediatric hematology/oncology, india
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پست الکترونیکی
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drdeenadayalanm@gmail.com
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Authors
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