Neonatal hereditary spherocytosis caused by a de novo frameshift mutation of the SPTB gene characterized by hydrops fetalis: A case report

RATIONALE: The etiology of non-immune hydrops fetalis is complex, and its prognosis is poor. One of its main causes is anemia. There are few reports on hydrops fetalis due to anemia caused by hereditary spherocytosis (HS), especially regarding its occurrence in the neonatal period. Thus, we report on a case of neonatal HS caused by a new SPTB gene mutation that was characterized by hydrops fetalis. PATIENT CONCERNS: A neonate with intrauterine hydrops fetalis showed severe hyperbilirubinemia and anemia, reticulocytosis, and hepatosplenomegaly. Laboratory examination findings were normal. DIAGNOSES: Gene sequencing of the patient and his parents showed a de novo frameshift mutation in the patient's SPTB gene. Ultimately, the patient was diagnosed with HS. INTERVENTIONS: Exchange and red blood cell transfusions were performed in the neonatal period. OUTCOMES: The child was discharged from the hospital 14 days postnatal because his hemoglobin and bilirubin levels were stable. Red blood cell transfusion was performed once in infancy; however, no further red blood cell transfusions were required within 2 years of age. LESSONS: Hydrops fetalis can be a manifestation of HS. Genetic detection can help confirm the diagnosis of suspected neonatal HS undocumented by other laboratory examinations.