A novel mutation in SPTA1 identified by whole exome sequencing in a Chinese family for hereditary elliptocytosis presenting with hyperbilirubinemia: A case report.Medicine (Baltimore). 2019 May; 98(22):e15800.M
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.
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.
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.
The proband underwent splenectomy and cholecystectomy due to symptomatic splenomegaly and gallstone.
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.
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.