Identification of a novel ANK1 mutation in hereditary spherocytosis co‐existing with BWS
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1903
Abstract: Beckwith–Wiedemann syndrome (BWS) is an inherited disorder affecting 1 in 10,500 to 13,700 newborns worldwide. The disease is caused in a vast majority of patients by a molecular defect in the imprinted chromosome 11p15.5. Hereditary… read more here.
Keywords: ank1 mutation; mutation hereditary; spherocytosis; novel ank1 ... See more keywords
Profound spherocytosis in adulthood: Acquired, hereditary or both?
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Laboratory Hematology"
DOI: 10.1111/ijlh.12685
Abstract: Sir, In adult patients with haemolytic anaemia and marked spherocytosis in the peripheral blood smear, a distinction has to be made between a late presentation of a hereditary anaemia such as hereditary spherocytosis (HS) and… read more here.
Keywords: profound spherocytosis; spherocytosis; diagnosis; history ... See more keywords
Transcatheter Closing Atrial Septal Defect in a Child With Hereditary Spherocytosis
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2019.00506
Abstract: A 3-year-old girl was admitted to our hospital for the correction of atrial septal defect (ASD). Open heart operation with cardiopulmonary bypass is dangerous because the patient also had hereditary spherocytosis, which put her at… read more here.
Keywords: spherocytosis; atrial septal; septal defect; hereditary spherocytosis ... See more keywords
Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms222011007
Abstract: Hereditary spherocytosis (HS), the most commonly inherited hemolytic anemia in northern Europeans, comprises a group of diseases whose heterogeneous genetic basis results in a variable clinical presentation. High-throughput genome sequencing methods have made a leading… read more here.
Keywords: exome sequencing; spherocytosis; novel mutation; hereditary spherocytosis ... See more keywords