ArticleGenetics and molecular biology
Systematic molecular analysis of hemophilia A patients from Colombia.
Article in Genetics and molecular biology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Comprehensive Screening of Genetic Variants in the Coding Region ofLife (Basel, Switzerland) · 2024Article
- Haemophilia A: A Review of Clinical Manifestations, Treatment, Mutations, and the Development of Inhibitors.Hematology reports · 2023Review
- Article
- Susceptibility to thiopurine toxicity byColombia medica (Cali, Colombia)Observational
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hemophilia A (HA) is an X-linked recessive disorder and the second most common coagulation disorder with an incidence of 1 in 5,000 live born males. Worldwide, there are 178,500 affected individuals, 60% with the severe form of the disease. Intron 22 and 1 inversions (Inv22 and Inv1) are the most frequent molecular alterations found in severe HA patients with a frequency of 45-50% and 0.5-5%, respectively. We have implemented a systematic cost-effective strategy for the identification of the molecular alteration in HA patients using Inverse shifting-PCR for Inv22 and Inv1, followed by the analysis of the F8 gene coding region by means of high resolution melting (HRM) PCR and Sanger sequencing in Inv22 and Inv1 negative patients. A total of 33 male HA patients and 6 women were analyzed. Inversion 22 was detected in 14/33 male patients (42.4%), 3/33 (9.1%) had Inv1, 3/33 (9.1%) had large structural variants, and 11/33 (33.3%) single nucleotide/ small frameshift variants. No genetic variant was found in 2/33 patients (6%). With this systematic approach we detected pathogenic variants in 31 out of 33 male affected individuals (94%) tested for the first time.in a cohort of patients from Colombia.
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Registered trials
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