ReviewBMC medical genomics2021
Identification of a De Novoc.1000delA ANK1 mutation associated to hereditary spherocytosis in a neonate with Coombs-negative hemolytic jaundice-case reports and review of the literature.
Review in BMC medical genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 9 citations in OpenAlex.
- Screening of hereditary elliptocytosis caused byBMJ paediatrics open · 2026Article
- Two Variants of theBiomedicines · 2025Article
- Genotype clinical phenotype analysis of 35 cases of hereditary spherocytosis in children.Frontiers in pediatrics · 2025Article
- A novelFrontiers in pediatrics · 2025Article
- Clinical manifestations of 17 Chinese children with hereditary spherocytosis caused by novel mutations of theFrontiers in genetics · 2023Article
- Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report.Experimental and therapeutic medicine · 2022Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
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Abstract
backgroundTo strengthen the understanding of Hereditary Spherocytosis (HS) and determine the disease-causing mutation present with neonatal jaundice. HS is a hemolytic condition resulting from various erythrocyte membrane defects. Many different mutations result in HS, including mutations in ANK1. CASE PRESENTATION: A term neonate presented at ten hours with severe jaundice requiring exchange transfusion. At two months he was hospitalized due to repeated pallor and anemia requiring blood transfusions. Using next-generation sequencing, we discovered the responsible mutation in the proband but not in his parents; a heterozygous nucleotide variation of c.1000delA (p.1334Sfs*6) in ANK1. Thus hereditary spherocytosis was diagnosed.
conclusionsGenetic detection is an important means of discovering the cause of hemolytic anemia in neonates and infants where routine diagnostic tests are unrevealing. We found a novel de novo mutation, c.1000delA (p.1334Sfs*6) in ANK1 that might account for other cases of HS in the Chinese population.
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