The genetic analysis of eight families with hemophilia B in Mongolia: Identification of two novel mutation.

ABSTRACT:

Background

This study aimed to conduct molecular diagnostics among individuals with hemophilia B (HB) and carriers of hemophilia in Mongolia.

Methods

Eight patients (six severe, two mild) with HB and their 12 female relatives were enrolled from eight families. Sanger sequence was performed for mutation identification. The questionnaire survey was conducted to evaluate carrier symptoms in female relatives.

Results

Two families had a history of HB. A total of five different variants (c.223C > T; c.344A > G; c.464G > C; c.187_188del; and c.1314_1314delA) were identified in six patients with severe HB. Of these, two (c.187_188del and c.1314_1314delA) were novel. No variant in the entire F9 was found in two patients with mild HB. Nonsense c.223C > T (p.Arg75*) mutation was

SUBMITTER: Munkhuu P 

PROVIDER: S-EPMC11393770 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature