Abstract
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.
MeSH terms
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Anemia, Hemolytic, Congenital / blood
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Anemia, Hemolytic, Congenital / diagnosis
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Anemia, Hemolytic, Congenital / genetics*
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Ankyrins / blood
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Ankyrins / deficiency*
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Ankyrins / genetics
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DNA Mutational Analysis
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Eosine Yellowish-(YS) / analogs & derivatives
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Flow Cytometry
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Genetic Predisposition to Disease
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Heredity
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Heterozygote
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Humans
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Infant
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Infant, Newborn
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Jaundice, Neonatal / blood
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Jaundice, Neonatal / diagnosis
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Jaundice, Neonatal / genetics*
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Jaundice, Obstructive / blood
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Jaundice, Obstructive / diagnosis
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Jaundice, Obstructive / genetics*
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Male
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Mutation*
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Osmotic Fragility
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Pedigree
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Phenotype
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Predictive Value of Tests
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Severity of Illness Index
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Spectrin / genetics*
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Spherocytosis, Hereditary / blood
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Spherocytosis, Hereditary / diagnosis
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Spherocytosis, Hereditary / genetics*
Substances
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Ankyrins
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Spectrin
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eosin maleimide
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Eosine Yellowish-(YS)
Supplementary concepts
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Anemia, hereditary spherocytic hemolytic
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Spherocytosis, Type 1