Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs-negative hemolytic jaundice

Hereditary spherocytosis (HS) is a common heterogeneous type of inherited hemolytic anemia characterized by jaundice and splenomegaly. Diagnosis of HS in neonates is considered unreliable, and is generally based on positive family history, spherocytes in peripheral smears, increased osmotic fragilit...

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Detalles Bibliográficos
Autores principales: Wang, Xiong, Liu, Aiguo, Lu, Yanjun, Hu, Qun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2019
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6423610/
https://www.ncbi.nlm.nih.gov/pubmed/30816434
http://dx.doi.org/10.3892/mmr.2019.9947

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6423610/
https://www.ncbi.nlm.nih.gov/pubmed/30816434
http://dx.doi.org/10.3892/mmr.2019.9947

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