Management of Hemophilia C (Factor XI Deficiency) in Two Families: A Case Study at the University Hospital of Halle (Saale)

Introduction: Hemophilia C, or Factor XI deficiency, is a rare bleeding disorder, often identified by prolonged partial thromboplastin time (PTT) or bleeding complications. This poster presents two families with distinct genetic mutations related to Factor XI deficiency, treated at the University Hospital of Halle (Saale), with varied clinical outcomes [1] [2] [3].

Method: Two families with confirmed Factor XI deficiency were examined. In the first family, two cousins underwent stem cell transplantation for beta-thalassemia major. One child had homozygous and the other heterozygous Factor XI deficiency. Both received thrombocyte transfusions only below standard thresholds (<10 Gpt/l or<20 Gpt/l with bleeding), and neither had significant bleeding. The mother of one of the boys was diagnosed with Factor XI deficiency after severe postpartum bleeding, requiring Hemoleven due to ineffective fresh frozen plasma. To prevent complications during her second birth, she received prophylactic Hemoleven, which led to an uncomplicated delivery. In the second family, two children were diagnosed through routine preoperative screening in the setting of a prolonged PTT and a family history of bleeding disorders. Both families have consanguineous backgrounds, contributing to the higher incidence of this rare condition.

Results: In the first family, despite homozygous and heterozygous Factor XI mutations, both cousins had no significant bleeding, even after stem cell transplantation. In the second family, diagnosis was incidental through preoperative screening, and no major bleeding episodes were observed. These findings suggest that bleeding severity in Factor XI deficiency varies, with careful monitoring and management playing a key role.

Conclusion: These cases illustrate the variability of Factor XI deficiency, where some patients, even with homozygous mutations, experience minimal bleeding. Early diagnosis, particularly in families with a history of bleeding, is critical to avoid complications. Consanguinity increases the prevalence of this rare disorder.

 

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Conflict of Interest:

The authors declare no conflict of interest.

• References

• 1 Bolton-Maggs P.H., Perry D.J.. 1999. ‘Factor XI deficiency: Current aspects of clinical features, diagnosis, and treatment’, Haemophilia. vol. 5. no. 3 pp. 145-157 Hoboken, New Jersey: Wiley-Blackwell;
• 2 Peyvandi F., Menegatti M.. 2011. ‘Factor XI deficiency’, Seminars in Thrombosis and Hemostasis. vol. 37. no. 3 pp. 250-257 New York: Thieme Medical Publishers;
• 3 Salomon O.. et al. 2016. ‘Hemophilia C: An underdiagnosed bleeding disorder’, Blood. vol. 127. no. 4 pp. 356-362 Washington, D.C.: American Society of Hematology;

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Artikel online veröffentlicht:
13. Februar 2025