Molecular characterization of hemophilia B patients in Colombia.

Yolima A Parrado Jara, Luz K Yunis Hazbun, Adriana Linares, Juan J Yunis Londoño

Molecular genetics & genomic medicine 2020 May

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Hemophilia 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. Here, we characterized 20 HB apparently unrelated families by PCR amplification and Sanger sequencing. Fourteen 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. This 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. © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

Citation

Yolima A Parrado Jara, Luz K Yunis Hazbun, Adriana Linares, Juan J Yunis Londoño. Molecular characterization of hemophilia B patients in Colombia. Molecular genetics & genomic medicine. 2020 May;8(5):e1210