ArticleHaematologica2009
Beta-spectrinBari: a truncated beta-chain responsible for dominant hereditary spherocytosis.
Article in Haematologica, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 15 citations in OpenAlex.
- Identification of a novel hereditary spherocytosis gene mutation in a Chinese child with α-globin gene triplication.MedScience · 2026Article
- Case report: Genetic analysis of a novel intronic inversion variant in theFrontiers in genetics · 2023Article
- A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrin.Annals of hematology · 2022Article
- Study on Management of Blood Transfusion Therapy in Patients with Hereditary Spherocytosis.Applied bionics and biomechanics · 2022Article
- A novel mutation in the β-spectrin gene causes the activation of a cryptic 5'-splice site and the creation of a de novo 3'-splice site.Human genome variation · 2015Article
- A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement.PloS one · 2011Article
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We describe a beta-spectrin variant, named beta-spectrin Bari, characterized by a truncated chain and associated with hereditary spherocytosis. The clinical phenotype consists of a moderately severe hemolytic anemia, splenomegaly, and spherocytes and acanthocytes in the blood smear. The occurrence of the truncated protein, that represents about 8% of the total beta-spectrin occurring on the membrane, results in a marked spectrin deficiency. The altered protein is due to a single point mutation at position -2 (A->G) of the acceptor splice site of intron 16 leading to an aberrant beta-spectrin message skipping exons 16 and 17 indistinguishable from that reported for beta-spectrin Winston-Salem. We provide evidence that the mutated gene is transcribed but its mRNA is less abundant than either its normal counterpart or beta-spectrin Winston-Salem mRNA. Our findings are an example of how mutations in different splice sites, although causing the same truncating effect, result in clearly different clinical pictures.
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