ArticleBMC pediatrics2019
A de novo ANK1 mutation associated to hereditary spherocytosis: a case report.
Article in BMC pediatrics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 17 citations in OpenAlex.
- Two Variants of theBiomedicines · 2025Article
- Novel Identification of Ankyrin-R in Cardiac Fibroblasts and a Potential Role in Heart Failure.International journal of molecular sciences · 2024Article
- Case of Congenital Hemolytic Anemia withChildren (Basel, Switzerland) · 2023Article
- De novo variations of ANK1 gene caused hereditary spherocytosis in two Chinese children by affecting pre-mRNA splicing.BMC pediatrics · 2023Article
- Clinical manifestations of 17 Chinese children with hereditary spherocytosis caused by novel mutations of theFrontiers in genetics · 2023Article
- Severe hyperbilirubinemia in a neonate with hereditary spherocytosis due to aWorld journal of clinical cases · 2021Article
- The Successful Use of an Exchange Transfusion in a Child with Hereditary Spherocytosis Undergoing Congenital Cardiac Surgery.The journal of extra-corporeal technology · 2021Article
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11 authors at 2 institutions in 1 country.
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Abstract
backgroundHereditary 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 investigations showed moderate anemia (Hb80 g/L). Red cells displayed microcytosis (MCV76.4 fl, MCH25.6 pg, MCHC335 g/L). The reticulocytes were elevated (4.8%) and the spherocytes were increased (10%). Direct antiglobulin test was negative. Biochemical test indicated a slight elevation of bilirubin, mainly indirect reacting (TBIL32.5 μmol/L, IBIL24 μmol/L). The neonatal HS ratio is 4.38, obviously up the threshold. Meanwhile, a de novo ANK1 mutation (exon 25:c.2693dupC:p.A899Sfs*11) was identified by next-generation sequencing (NGS). Thus, hereditary spherocytosis was finally diagnosed.
conclusionsGene detection should be considered in some hemolytic anemia which is difficult to diagnose by routine means. We identified a novel de novo ANK1 heterozygous frameshift mutation in a Yi nationality patient while neither of his parents carried this mutation.
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