Novel α-spectrin mutation in trans with α-spectrin causing severe neonatal jaundice from hereditary spherocytosis.
Copyright policy )Novel α-spectrin mutation in trans with α-spectrin causing severe neonatal jaundice from hereditary spherocytosis.
We evaluated a neonate with severe jaundice but a negative family history. Spherocytes were present and suspected hereditary spherocytosis was confirmed by osmotic fragility and eosin-5-maleimide erythrocyte staining. We found he was a compound heterozygote for two pathogenic mutations in the gene encoding α-spectrin: a previously reported α(LEPRA) inherited from his asymptomatic mother, and a novel α-spectrin mutation in intron 45 +1 disrupting the consensus splice site, from his asymptomatic father.
- ARUP Laboratories (United States) United States
Ankyrins, Male, Heterozygote, Heredity, DNA Mutational Analysis, Infant, Newborn, Infant, Anemia, Hemolytic, Congenital, Flow Cytometry, Severity of Illness Index, Jaundice, Neonatal, Pedigree, Jaundice, Obstructive, Osmotic Fragility, Phenotype, Predictive Value of Tests, Mutation, Eosine Yellowish-(YS), Humans, Genetic Predisposition to Disease
Ankyrins, Male, Heterozygote, Heredity, DNA Mutational Analysis, Infant, Newborn, Infant, Anemia, Hemolytic, Congenital, Flow Cytometry, Severity of Illness Index, Jaundice, Neonatal, Pedigree, Jaundice, Obstructive, Osmotic Fragility, Phenotype, Predictive Value of Tests, Mutation, Eosine Yellowish-(YS), Humans, Genetic Predisposition to Disease
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