title: Severe Hemolytic Jaundice in a Neonate with a Novel COL4A1 Mutation.
abstract: We report our experience with a preterm infant with severe hemolytic jaundice who required exchange transfusion just after birth. The patient was negative for alloimmune hemolysis as a result of maternal-fetal blood type incompatibility, and tests for inherited defects in erythrocyte metabolism, membrane function, and hemoglobin synthesis were normal. We also performed a bone marrow examination, but could not identify the cause of hemolysis. The patient had several other complications, including porencephaly, epilepsy, elevated serum levels of creatine kinase, and persistent microscopic hematuria. Later, we detected a genetic mutation in COL4A1, which was recently found to be associated with hemolytic anemia. We therefore believe that all of the patient's clinical features, including hemolytic anemia, were due to the mutation in COL4A1. Genetic testing for COL4A1 mutations is recommended in neonates who exhibit hemolytic disease of unknown etiology, especially when other complications compatible with COL4A1-related disorders are present.
authors.affiliation: Department of Pediatrics, Kitano Hospital, Tazuke Kofukai, Medical Research Institute, Osaka, Japan. Electronic address: seasons12colors@yahoo.co.jp.
authors.forename: Seiichi
authors.initials: S
authors.lastname: Tomotaki
authors.affiliation: Department of Pediatrics, Kitano Hospital, Tazuke Kofukai, Medical Research Institute, Osaka, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Mizumoto
authors.affiliation: Department of Pediatrics, Kitano Hospital, Tazuke Kofukai, Medical Research Institute, Osaka, Japan.
authors.forename: Takayuki
authors.initials: T
authors.lastname: Hamabata
authors.affiliation: Department of Pediatrics, Kitano Hospital, Tazuke Kofukai, Medical Research Institute, Osaka, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Kumakura
authors.affiliation: Department of Pediatrics, Kitano Hospital, Tazuke Kofukai, Medical Research Institute, Osaka, Japan.
authors.forename: Mitsutaka
authors.initials: M
authors.lastname: Shiota
authors.affiliation: Department of Pediatric Neurology, Morinomiya Hospital, Osaka, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Arai
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Haginoya
authors.affiliation: Department of Pediatrics, Kitano Hospital, Tazuke Kofukai, Medical Research Institute, Osaka, Japan.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Hata
mesh_terms: D001787:Blood Group Incompatibility; D024141:Collagen Type IV / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007565:Jaundice / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: C547475:COL4A1 protein, human; D024141:Collagen Type IV
keywords: COL4A1; anemia; hemolysis; jaundice; neonate; type IV collagen