Journal of Developmental Medicine(Electronic Version)  2024, Vol. 12 Issue (6): 465-468,475 DOI: 10.3969/j.issn.2095-5340.2024.06.010 |
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| A case report of neonatal hereditary spherocytosis with a new mutation in the ANK1 gene |
| Zhang Yuanyuan, Li Zhongyuan, Hu Xiaohong
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(Department of Pediatrics, the Fourth Medical Center of PLAGeneral Hospital, Beijing 100048, China)
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Abstract 【Abstract】To analyze the clinical features, diagnosis and treatment process, and genetic testing results
of a case diagnosed with hereditary spherocytosis (HS) in the neonatal period. The case was jaundice and
spherical red blood cells were accounting for 30% on peripheral blood smear. Gene sequencing analysis
showed that there was one heterozygous mutation in the ANK1 gene. The same site mutation was detected in her mother, and who had a similar medical history. The gene mutation site was not included in the Human Gene Mutation Database (HGMD) and had not been reported in the literature, and it was a new mutation.The clinical phenotype of HS was non-specific, and it was mainly manifested as neonatal hyperunconjugated bilirubinemia in the early neonatal period, and anemia appears about 1 week after birth. Genetic testing was an important means of detecting the cause of hemolytic anemia in Coombs-negative neonates and infants.
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Received: 04 August 2023
Published: 27 November 2024
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