Multigene Panel Testing Reveals Novel Variants in Hereditary Spherocytosis Patients in Türkiye [PDF]
Doğru Ö +4 more
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Case Report: Identification and functional characterization of a novel heterozygous splice-donor (c.647+1G>A) site mutation in the <i>SPTB</i> gene that causes hereditary spherocytosis with hemolytic anemia. [PDF]
Cao K +6 more
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The coincidence of beta-thalassemia and hereditary spherocytosis: A case report and literature review. [PDF]
Habibzadeh S +4 more
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Complex heterozygous mutations in hereditary spherocytosis: A case report. [PDF]
He M +5 more
europepmc +1 more source
A Rare Case of Iron Overload in Hereditary Spherocytosis: A Case Report. [PDF]
Bui A +4 more
europepmc +1 more source
An Epidemic of Parvovirus B19-Induced Aplastic Crises in Pediatric Patients with Hereditary Spherocytosis Following the COVID-19 Pandemic: A Single-Center Retrospective Study. [PDF]
Giordano P +4 more
europepmc +1 more source
Identification and functional analysis of novel SPTB and ANK1 mutations in hereditary spherocytosis patients. [PDF]
Panarach C +3 more
europepmc +1 more source
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Hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly. It is reported worldwide and is the most common inherited anaemia in individuals of northern European ancestry. Clinical severity is variable with most patients having a well-compensated haemolytic anaemia.
Silverio Perrotta +2 more
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