[Analysis of Clinical Features and Gene Mutation in Children with Hereditary Coagulation Factor Deficiency].

OBJECTIVE

To analyze the clinical features, laboratory tests and gene mutations of children with hereditary coagulation factor deficiency, and explore the correlation between gene mutations and clinical phenotypes.

METHODS

The clinical data of 34 children with hereditary coagulation factor deficiency were reviewed, and high-throughput sequencing was used to detect pathogenic genes.

RESULTS

Among the 34 children, there were 32 males and 2 females, with a median age of 1.65 years (from 2 days to 11 years). There were 28 cases that had bleeding symptoms, including 11 cases of oral and nasal bleeding, 21 cases of mucocutaneous bleeding, 3 cases of intracranial bleeding, 4 cases of joint bleeding, 3 cases of gastrointestinal bleeding, 6 cases of surgical or traumatic bleeding. Four cases had a family history. Laboratory tests showed significant prolongation of prothrombin time or activated partial thromboplastin time. Among the 25 children with hemophilia A, there were 9 mild cases, 9 moderate cases, and 7 severe cases. There were 4 cases with intron 22 inversion in severe hemophilia A, while mild cases were mainly characterized by missense mutations. There were 4 cases with F Ⅸ gene mutations, 2 cases with F Ⅶ gene mutations, 2 cases with F Ⅺ gene mutations, and 1 case with F Ⅻ mutation. The F Ⅺ variant c.1036T>C (p.C346R) and F Ⅻ variant c.115+2T>A were novel mutations that had not been reported.

CONCLUSION

Most patients with hereditary coagulation factor deficiency have a bleeding tendency, and gene test is important for diagnosis and prognostic evaluation of the disease.