hereditary spherocytosis caused by a novel compound heterozygous mutation of SPTA1 and autoimmune hepatitis in a pediatric patient

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.