Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis

Abstract

Blood disorder: Targeted sequencing helps diagnosis when symptoms vary Genetic testing can help accurately diagnose people suspected of having a rare blood disorder called hereditary spherocytosis, the clinical symptoms of which often vary. Researchers in Japan led by Keiko Shimojima Yamamoto from Tokyo Women’s Medical University collected blood samples from 51 people with hemolytic anemia associated with/without morphological abnormalities in red blood cells. The researchers sequenced the DNA from five genes known to cause hereditary spherocytosis. They identified genetic defects, some never reported before, in 13 people, providing these individuals with a definitive diagnosis for their blood disorder. The researchers suggest more comprehensive genomic workups could help explain the cause of red blood cell shortages in the remaining study subjects.