Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations.
Hiromi OguraShouichi OhgaTakako AokiTaiju UtsugisawaHidehiro TakahashiAsayuki IwaiKenichiro WatanabeYusuke OkunoKenichi YoshidaSeishi OgawaSatoru MiyanoSeiji KojimaToshiyuki YamamotoKeiko Yamamoto-ShimojimaHitoshi KannoPublished in: Human genome variation (2020)
Genetic causes of undiagnosed hemolytic anemia in nineteen patients were analyzed by whole-exome sequencing, and novel COL4A1 variants were identified in four patients (21%). All patients were complicated with congenital malformations of the brain, such as porencephaly or schizencephaly. In these patients, hemolysis became less severe within 2 months after birth, and red cell transfusion was no longer required after 50 days, whereas chronic hemolysis continued.