Variant-level dataset: ATP7B and SPTB variants in a Chinese family with hereditary spherocytosis

Variant-level records for the two variants detected in a Chinese family with hereditary spherocytosis (HS). The proband had been misdiagnosed with Wilson disease on the basis of a heterozygous ATP7B variant. Diagnosis of HS was supported by spherocytes on peripheral blood smear, decreased eosin-5-maleimide (EMA) binding, increased osmotic fragility, and a heterozygous SPTB splice-region variant (NM_001355436.2:c.764-3C>A), which co-segregates with the disease in the proband and both children. Both variants were detected by a targeted hereditary haemolytic anaemia gene panel (clinical laboratory) and confirmed by Sanger sequencing. The dataset contains variant-level information only; no individual-level genotypes or potentially identifying information are included. The SPTB variant has been submitted to ClinVar (submission SUB16590864; accession to be added when assigned).