nstd241 (Xiao et al. 2024)
- Organism:
- Human
- Study Type:
- Case-Set
- Submitter:
- Jun Xiao
- Description:
- Hereditary spherocytosis (HS) is a widely recognized hereditary disorder marked by a distinct clinical triad: anemia, jaundice, and splenomegaly. This condition is prevalent globally and represents the most common inherited form of anemia among individuals of Northern European descent. Although HS is typically diagnosed during neonatal stages or early childhood, reports of prenatal testing are exceptionally rare. In this paper, we explore a case involving a 10-year-old diagnosed with HS, in which a deletion in the SPTB gene was identified in the patient, and his father displayed characteristics indicative of gonadal mosaicism. Consequently, prenatal testing was initiated. Within the context of genetic disorder pedigrees, our findings emphasize the critical importance of not disregarding de novo mutations in probands during reproductive evaluations and highlight the need for increased awareness of the potential presence of gonadal mosaicism. See Variant Summary counts for nstd241 in dbVar Variant Summary.