Case Reports
doi: 10.3109/03630269.2012.718309.Hb Filottrano [codon 120 (-A)]: a novel frameshift mutation in exon 3 of the β-globin gene causing dominantly inherited β-thalassemia intermedia
Affiliations
- PMID:22992010
- DOI: 10.3109/03630269.2012.718309
Item in Clipboard
Case Reports
Hb Filottrano [codon 120 (-A)]: a novel frameshift mutation in exon 3 of the β-globin gene causing dominantly inherited β-thalassemia intermedia
Antonio Amato et al. Hemoglobin.2012.
Display options
Format
Display options
Format
Abstract
We report a novel frameshift mutation in exon 3 of the β-globin gene, that, in the heterozygous state, leads to a β-thalassemia intermedia (β-TI) phenotype (marked anemia, splenomegaly, hyperbilirubinemia, jaundice, unbalanced synthesis of α/non-α chains in a 34-year-old Italian woman. This frameshift mutation, due to the deletion of the first nucleotide (-A) at codon 120, results in a β-globin chain that is elongated to 156 amino acid residues. These highly unstable abnormal chains precipitate in the erythroblasts as inclusion bodies, thus causing inefficient erythropoiesis and ultimately resulting in the observed dominant clinical phenotype.
Similar articles
- Hb Wilde and Hb Patagonia: two novel elongated beta-globin variants causing dominant beta-thalassemia.Scheps KG, Hasenahuer MA, Parisi G, Fornasari MS, Pennesi SP, Erramouspe B, Basack FN, Veber ES, Aversa L, Elena G, Varela V.Scheps KG, et al.Eur J Haematol. 2015 Jun;94(6):498-503. doi: 10.1111/ejh.12456. Epub 2014 Nov 27.Eur J Haematol. 2015.PMID:25284604
- Dominantly Inherited beta-Thalassemia.Efremov GD.Efremov GD.Hemoglobin. 2007;31(2):193-207. doi: 10.1080/03630260701290092.Hemoglobin. 2007.PMID:17486503
- Hb Florida: a novel elongated C-terminal beta-globin variant causing dominant beta-thalassemia phenotype.Weinstein BI, Erramouspe B, Albuquerque DM, Oliveira DM, Kimura EM, Costa FF, Sonati MF.Weinstein BI, et al.Am J Hematol. 2006 May;81(5):358-60. doi: 10.1002/ajh.20561.Am J Hematol. 2006.PMID:16628732
- [The association of beta zero-thalassemia and Hb D Punjab in a family of Indian origin. The second case reported in Spain].Ropero P, González FA, Sánchez J, Armada B, Martí E, Valdés B, Mora A, Villegas A.Ropero P, et al.Med Clin (Barc). 1997 Mar 15;108(10):385-8.Med Clin (Barc). 1997.PMID:9139146Review.Spanish.
- A 65 bp duplication/insertion in exon II of the beta globin gene causing beta0-thalassemia.Frischknecht H, Dutly F.Frischknecht H, et al.Haematologica. 2007 Mar;92(3):423-4. doi: 10.3324/haematol.10785.Haematologica. 2007.PMID:17339197Review.
Cited by
- TGA/Chemometric Test Is Able to Detect the Presence of a Rare Hemoglobin Variant Hb Bibba.Risoluti R, Caprari P, Gullifa G, Diana L, Luciani M, Amato A, Materazzi S.Risoluti R, et al.Front Mol Biosci. 2019 Oct 1;6:101. doi: 10.3389/fmolb.2019.00101. eCollection 2019.Front Mol Biosci. 2019.PMID:31632985Free PMC article.
Publication types
MeSH terms
Substances
Related information
LinkOut - more resources
Full Text Sources