ArticleThe Journal of clinical investigation1997
Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia.
Article in The Journal of clinical investigation, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 53 citations in OpenAlex.
- Hereditary red cell defects as an underrecognized cause of neonatal jaundice.Journal of perinatology : official journal of the California Perinatal Association · 2026Article
- Molecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry.Annals of hematology · 2024Article
- Heterozygous variants in SPTBN1 cause intellectual disability and autism.American journal of medical genetics. Part A · 2021Article
- Rapid Identification of BiallelicMolecular syndromology · 2020Article
- Spectrin tetramer formation is not required for viable development in Drosophila.The Journal of biological chemistry · 2015Article
- Spectrin Breakdown Products (SBDPs) as Potential Biomarkers for Neurodegenerative Diseases.Current translational geriatrics and experimental gerontology reports · 2012Article
- Article
- Erythrocyte disorders in the perinatal period.Seminars in perinatology · 2007Review
- Nonimmune hydrops fetalis in two cases of consanguineous parents and associated with hereditary spherocytosis and hemophagocytic hystiocytosis.Journal of perinatology : official journal of the California Perinatal Association · 2007Article
- Organization and dynamics of tryptophan residues in erythroid spectrin: novel structural features of denatured spectrin revealed by the wavelength-selective fluorescence approach.Protein science : a publication of the Protein Society · 2003Article
- Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?Journal of medical genetics · 1998Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We studied an infant with severe nonimmune hemolytic anemia and hydrops fetalis at birth. His neonatal course was marked by ongoing hemolysis of undetermined etiology requiring repeated erythrocyte transfusions. He has remained transfusion-dependent for more than 2 yr. A previous sibling born with hemolytic anemia and hydrops fetalis died on the second day of life. Peripheral blood smears from the parents revealed rare elliptocytes. Examination of their erythrocyte membranes revealed abnormal mechanical stability as well as structural and functional abnormalities in spectrin. Genetic studies revealed that the proband and his deceased sister were homozygous for a mutation of betaIsigma1 spectrin, L2025R, in a region of spectrin that is critical for normal function. The importance of leucine in this position of the proposed triple helical model of spectrin repeats is highlighted by its evolutionary conservation in all beta spectrins from Drosophila to humans. Molecular modeling demonstrated the disruption of hydrophobic interactions in the interior of the triple helix critical for spectrin function caused by the replacement of the hydrophobic, uncharged leucine by a hydrophilic, positively charged arginine. This mutation must also be expressed in the betaIsigma2 spectrin found in muscle, yet pathologic and immunohistochemical examination of skeletal muscle from the deceased sibling was unremarkable.
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