ArticleMolecular genetics & genomic medicine2020
Molecular characterization of hemophilia B patients in Colombia.
Article in Molecular genetics & genomic medicine, 2020. 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, 8 citations in OpenAlex.
- Molecular mechanisms and therapeutic strategies for the recurrent F9 (c.520 + 13 A > G) variant in hemophilia B.Human genomics · 2026Article
- The genetic analysis of eight families with hemophilia B in Mongolia: Identification of two novel mutation.Molecular genetics & genomic medicine · 2024Article
- Mutation analysis and characterisation ofBlood research · 2021Article
- Defining the molecular pathology and consequent phenotypes in Egyptian HB patients.Journal, genetic engineering & biotechnology · 2021Article
- Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations.Molecular genetics & genomic medicine · 2020Article
- Molecular characterization of hemophilia B patients in Colombia.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHemophilia B (HB) is a coagulation disorder with an X-linked recessive inheritance pattern, caused by plasma FIX deficiency. In Colombia, HB is considered a rare and high-cost disease, with 362 males reported in 2017.
methodsHere, we characterized 20 HB apparently unrelated families by PCR amplification and Sanger sequencing.
resultsFourteen unique variants were identified: seven missense, three nonsense, one variant in the 3' UTR region, two large deletions >50 bp, and one intronic substitution that affects splicing c.520+13A>G that was present in 7/20 patients (35%). All these variants have been previously reported in the literature, except for exons 3 and 4, deletions, present in one patient. The genotype-phenotype association correlates with the reported in the literature, with the exception of one patient.
conclusionThis molecular analysis allowed us to establish the causal variant of HB in 100% of patients, to provide the appropriate genetic counseling to each of the families, and to propose a more cost-effective carrier analysis. Here, we reported the first variants in Colombian population with Hemophilia B, finding a new variant and one intron recurrent variant present in 35% of patients.
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