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A de novo ANK1 mutation associated to hereditary spherocytosis: a case report

18 Feb 2019

Abstract excerpt

BACKGROUND: Hereditary spherocytosis (HS) is a type of hemolytic anemia caused by abnormal red cell membrane skeletal proteins with few unique clinical manifestations in the neonate and infant. An ANK1 gene mutation is the most common cause of HS. CASE PRESENTATION: The patient was a 11-month-old boy who suffered from anemia and needed a regular transfusion therapy at an interval of 2-3 months. Hematological...

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PMID: 30777044
DOI: 10.1186/s12887-019-1436-4

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