Novel Insights into Heterozygous Factor XIII Deficiency

Area of Science:

• Hematology
• Genetics
• Molecular Biology

Background:

• The clinical significance and prevalence of heterozygous factor XIII (FXIII) deficiency remain debated.
• Previous estimates suggest a prevalence ranging from 1 in 1,000 to 5,000 individuals.

Purpose of the Study:

• To investigate the molecular and clinical characteristics of heterozygous factor XIII (FXIII) deficiency.
• To analyze genetic variants in the F13A gene associated with this condition.

Main Methods:

• Analysis of molecular, laboratory, and clinical data from 207 individuals with heterozygous FXIII deficiency.
• Identification and characterization of variants in the F13A gene.

Main Results:

• A total of 49 variants were identified in the F13A gene, predominantly missense mutations in the catalytic domain.
• Heterozygous FXIII deficiency is generally asymptomatic but associated with increased risk of hemorrhagic complications during hemostatic challenges.
• Common manifestations include postoperative bleeding, postpartum hemorrhage, and miscarriage.

Conclusions:

• Heterozygous FXIII deficiency presents with diverse clinical manifestations, often triggered by specific events.
• The genetic variant pattern resembles that of severe FXIII deficiency.
• More extensive studies are required to resolve remaining questions regarding this bleeding disorder.