Case report: Whole-exome sequencing for a hereditary elliptocytosis case with an unexpectedly low HbA1c
Lu Pang,
Ziyi Zeng,
Yadi Ding
et al.
Abstract:ObjectivesHereditary elliptocytosis is a group of erythroid hereditary diseases characterized by elliptically shaped erythrocytes in peripheral blood. It is mainly inherited through autosomal dominant inheritance. This study aimed to conduct a genetic etiology analysis in a case with a clinical diagnosis of hereditary elliptocytosis and an unexpectedly low HbA1c.MethodsWhole-exome sequencing was performed to find the possible pathogenic mutations. At the same time, bioinformatics software was used to predict t… Show more
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