ArticleThe Journal of clinical investigation1996
Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia.
Article in The Journal of clinical investigation, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 91 citations in OpenAlex.
- Targeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazil.Annals of hematology · 2020Trial
- Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation.Journal of translational medicine · 2025Article
- Advances on the genetic basis of red cell membrane disorders.Current opinion in hematology · 2025Review
- SPTA1-Related Hereditary Spherocytosis: Novel Compound Heterozygous Mutations With Severe Clinical Manifestation.Cureus · 2025Article
- An overview of hereditary spherocytosis and the curative effects of splenectomy.Frontiers in physiology · 2025Review
- Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants.Frontiers in pediatrics · 2025Article
- Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis.Orphanet journal of rare diseases · 2024Article
- Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?International journal of molecular sciences · 2023Article
- A Novel SPTA1 Mutation in a Patient with Hereditary Spherocytosis without a Family History and Coexisting Gilbert's Syndrome.Internal medicine (Tokyo, Japan) · 2023Article
- Diagnosis and clinical management of red cell membrane disorders.Hematology. American Society of Hematology. Education Program · 2021Article
- Review
- Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.American journal of hematology · 2020Article
- Article
- Anemia lurking in introns.The Journal of clinical investigation · 2019Article
- Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia.The Journal of clinical investigation · 2019Article
- Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs‑negative hemolytic jaundice.Molecular medicine reports · 2019Article
- The Spectrum ofFrontiers in physiology · 2019Article
- RNA splicing during terminal erythropoiesis.Current opinion in hematology · 2017Review
- Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer.Blood cells, molecules & diseases · 2016Article
- A neonate with Coombs-negative hemolytic jaundice with spherocytes but normal erythrocyte indices: a rare case of autosomal-recessive hereditary spherocytosis due to alpha-spectrin deficiency.Journal of perinatology : official journal of the California Perinatal Association · 2013Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 2 countries.
Funding
Abstract
We studied a patient with a severe spherocytic hemolytic anemia without family history of spherocytosis. Analysis of patient's erythrocyte membrane proteins revealed spectrin deficiency and a truncated alpha spectrin protein. We determined that the patient is a compound heterozygote with two mutations in alpha spectrin gene. Mutation in the paternal allele, designated alpha spectrin(PRAGUE), is a transition A to G in the penultimate position of intron 36 that leads to skipping of exon 37, frameshift, and production of the truncated alpha spectrin protein. The maternal allele, designated alpha spectrin(LEPRA), contains transition C-->T in position -99 of intron 30. This mutation enhances an alternative acceptor splice site 70 nucleotides upstream from the regular site. The alternative splicing causes a frameshift and premature termination of translation leading to a significant decrease in alpha spectrin production. The alpha(LEPRA) mutation is linked to a spectrin alphaIIa marker that was found to be associated with recessive or nondominant spectrin-deficient hereditary spherocytosis in approximately 50% of studied families. We conclude that the alpha(LEPRA) mutation combined in trans with the alpha(PRAGUE) mutation underlie the severe hemolytic anemia in the proband. We suggest that allele alpha spectrin(LEPRA) may be frequently involved in pathogenesis of recessive or nondominant spectrin-deficient hereditary spherocytosis.
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