title: Acute kernicterus in a neonate with O/B blood group incompatibility and a mutation in SLC4A1.
abstract: We cared for a term female newborn, who at 108 hours of age, with a total serum bilirubin of 15.4 mg/dL, was discharged from the hospital on home phototherapy. At a return appointment 44 hours later, her total serum bilirubin was 41.7 mg/dL and signs of acute kernicterus were present. Maternal/fetal blood group O/B incompatibility was identified, with a negative direct antiglobulin test, which was positive on retesting. She had abundant spherocytes on blood smear, and these persisted at follow-up, but neither parent had spherocytes identified. A heterozygous SLC4A1(E508K) mutation (gene encoding erythrocyte membrane protein band 3) was found, and in silico predicted to result in damaged erythrocyte cytoskeletal protein function. No mutations were identified in other red cell cytoskeleton genes (ANK1, SPTA1, SPTB, EPB41, EPB42) and the UGT1A1 promoter region was normal. Neurologic follow-up at 2 and 4 months showed developmental delays consistent with mild kernicterus.
authors.affiliation: Women and Newborns Program, Intermountain Healthcare, Salt Lake City, Utah 84403, USA. robert.christensen@imail.org
authors.forename: Robert D
authors.initials: RD
authors.lastname: Christensen
authors.forename: Hassan M
authors.initials: HM
authors.lastname: Yaish
authors.forename: Roberto H
authors.initials: RH
authors.lastname: Nussenzveig
authors.forename: N Scott
authors.initials: NS
authors.lastname: Reading
authors.forename: Archana M
authors.initials: AM
authors.lastname: Agarwal
authors.forename: Larry D
authors.initials: LD
authors.lastname: Eggert
authors.forename: Josef T
authors.initials: JT
authors.lastname: Prchal
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics; D017920:Antiporters / Q000235:genetics*; D001663:Bilirubin / Q000097:blood; D001787:Blood Group Incompatibility / Q000097:blood* / Q000235:genetics*; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000097:blood / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D007647:Kernicterus / Q000097:blood* / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics; D015800:Protozoan Proteins / Q000235:genetics; D013103:Spherocytosis, Hereditary / Q000097:blood / Q000235:genetics
chemical_list: D000017:ABO Blood-Group System; D017920:Antiporters; C411566:EMP3 protein, Plasmodium falciparum; D008565:Membrane Proteins; D015800:Protozoan Proteins; C110099:SLC4A1AP protein, human; D001663:Bilirubin
keywords: ABO; hemolysis; hereditary spherocytosis; jaundice; kernicterus; neonate