Molecular characterization of hemophilia B patients in Colombia.

ABSTRACT:

Background

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.

Methods

Here, we characterized 20 HB apparently unrelated families by PCR amplification and Sanger sequencing.

Results

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 repor

SUBMITTER: Parrado Jara YA 

PROVIDER: S-EPMC7216803 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature