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[Factor XI deficiency--a rare coagulopathy in the GDR]
Folia Haematologica (Leipzig, Germany : 1928)
|January 1, 1986
Summary
Severe Factor XI deficiency, a rare inherited bleeding disorder, causes significant hemorrhages in affected individuals. Heterozygous carriers show no bleeding symptoms, highlighting the importance of genetic testing for this coagulation disorder.
Area of Science:
- Hematology
- Genetics
- Coagulation Disorders
Background:
- Factor XI deficiency is a rare inherited bleeding disorder.
- It is characterized by prolonged activated partial thromboplastin time (aPTT) and activated clotting time (ACT).
- Clinical manifestations range from mild to severe bleeding episodes.
Observation:
- A family (kin) with Factor XI deficiency was studied.
- One individual with homozygous Factor XI deficiency (<1% factor XI) presented with severe hemorrhages post-injury and surgery.
- Three heterozygous individuals had normal coagulation tests (40-50% factor XI) and no bleeding history.
Findings:
- Homozygous Factor XI deficiency leads to severe bleeding complications.
- Heterozygous carriers of Factor XI deficiency are asymptomatic with normal coagulation parameters.
- The inheritance pattern observed in this kin is recessive, with a notable marriage between related individuals in the fourth generation.
Implications:
- Understanding the genotype-phenotype correlation in Factor XI deficiency is crucial for clinical management.
- Genetic counseling and testing are important for families with a history of Factor XI deficiency.
- This study contributes to the understanding of the genetic transmission and clinical spectrum of Factor XI deficiency.