Hereditary elliptocytosis in a child with an autosomal recessive SPTA1 mutation: a case report from Saudi Arabia.

Hereditary elliptocytosis (HE) is a genetic red blood cell disorder characterized by elliptical-shaped cells. Clinical manifestations range from asymptomatic cases to severe hemolysis and are influenced by underlying gene mutations, including those in spectrin alpha, erythrocytic 1 (SPTA1). This case report examines whether zygosity of the mutation correlates with clinical severity. The case involved a comprehensive diagnostic approach including complete blood count, peripheral blood smear, sodium dodecyl sulfate-polyacrylamide gel electrophoresis, and whole exome sequencing using the CentoXome MOx Solo platform (CENTOGENE, Rostock, Germany). The analysis focused on coding regions and adjacent intronic nucleotides of genes associated with known phenotypes, specifically looking at the correlation between mutation zygosity and clinical severity. The patient, a 10-year-old Saudi male, presented with mild normocytic normochromic anemia and signs of extravascular hemolysis. A significant percentage of elliptocytes was noted on the blood smear. Genetic analysis revealed a homozygous likely pathogenic variant in the SPTA1 gene, specifically NM_003126.2.779T>C (p. Leu260Pro). This mutation is associated with autosomal recessive HE, suggesting a possible correlation between homozygosity and a more pronounced clinical presentation. Identifying a rare homozygous mutation in the SPTA1 gene confirms the diagnosis of autosomal recessive HE in a Saudi Arabian pediatric patient. It suggests a correlation between homozygosity and the severity of anemia and hemolysis.