Hereditary Spherocytosis Caused by a Novel Compound Heterozygous Mutation of SPTA1 and Autoimmune Hepatitis in a Pediatric Patient

Abstract

Objectives: It is uncommon for autoimmune hepatitis (AIH) to occur in combination with hereditary spherocytosis (HS). The present study examined the genetic and clinical features of a seven-year-old girl with yellow sclerae and abnormalities in liver function test results. Methods: Blood samples were taken from this girl, her parents, and a parental grandmother to be analyzed using laboratory tests and Sanger and next-generation sequencing (NGS). Results: Spectrin alpha, erythrocytic 1 (SPTA1) gene compound heterozygous mutations, were detected from this proband. Moreover, the proband inherited mutations c.6544G>C (p.D2182H) and Thec.134G>A (p.R45K) from her father and mother respectively. Moreover, both her father and grandmother shared an identical mutation. The mutations were not depicted in the Human Gene Mutation Database. Conclusions: HS shares some clinical features close to AIH hence, in the co-existence of AIH, its diagnosis can be challenging. The concurrent disorder may exist if a single autoimmune hepatopathy cannot explain laboratory findings. Pedigree investigations and genetic analyses might be required for the final diagnosis.