{"title":"Hereditary elliptocytosis in a child with an autosomal recessive <i>SPTA1</i> mutation: a case report from Saudi Arabia.","authors":"Fahad Alamr","doi":"10.25122/jml-2025-0038","DOIUrl":null,"url":null,"abstract":"<p><p>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 (<i>SPTA1</i>). 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 <i>SPTA1</i> 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 <i>SPTA1</i> 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.</p>","PeriodicalId":16386,"journal":{"name":"Journal of Medicine and Life","volume":"18 8","pages":"816-820"},"PeriodicalIF":0.0000,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12467422/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Medicine and Life","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.25122/jml-2025-0038","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
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.
期刊介绍:
The Journal of Medicine and Life publishes peer-reviewed articles from various fields of medicine and life sciences, including original research, systematic reviews, special reports, case presentations, major medical breakthroughs and letters to the editor. The Journal focuses on current matters that lie at the intersection of biomedical science and clinical practice and strives to present this information to inform health care delivery and improve patient outcomes. Papers addressing topics such as neuroprotection, neurorehabilitation, neuroplasticity, and neuroregeneration are particularly encouraged, as part of the Journal''s continuous interest in neuroscience research. The Editorial Board of the Journal of Medicine and Life is open to consider manuscripts from all levels of research and areas of biological sciences, including fundamental, experimental or clinical research and matters of public health. As part of our pledge to promote an educational and community-building environment, our issues feature sections designated to informing our readers regarding exciting international congresses, teaching courses and relevant institutional-level events.