A novel mutation in SPTA1 identified by whole exome sequencing in a Chinese family for hereditary elliptocytosis presenting with hyperbilirubinemia: A case report.

RATIONALE: Hereditary elliptocytosis is an inherited disorder characterized by the elliptical red blood cells (RBCs) on the peripheral blood smear and related hemolysis, mainly results from a heterozygous mutation in the genes that encode protein 4.1, α-spectrin, β-spectrin. Mutations of SPTA1 are the most common.

PATIENT CONCERNS: A 21-year-old female presented with left epigastric pain and jaundice with numerous elliptical RBCs on blood film. The family history review discovered jaundice in her sibling.

DIAGNOSIS: A novel heterozygous mutation of SPTA1 was detected in the proband, her brother and father, c.7220_7221del:p.Tyr2407* in exon 52. Bioinformatics analysis indicated that this mutation was likely pathogenic and results in early termination of transcription and production of defective protein.

INTERVENTIONS: The proband underwent splenectomy and cholecystectomy due to symptomatic splenomegaly and gallstone.

OUTCOMES: After surgery, the bilirubin levels decreased to normal (i.e., total bilirubin 16.4 μmol/L; indirect bilirubin 12.3 μmol/L), and the pain and uncomfortableness in the upper abdomen relieved completely.

LESSONS: We suggest that simultaneous whole exome sequencing of causative genes of all family members is a useful strategy to identify pathogenetic mutations for hereditary RBC membrane disorders, mainly in cases with an ambiguous phenotype.