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Umbilical bleeding: a presenting feature for congenital afibrinogenemia
Hassan Abolghasemi1, Ehsan Shahverdi
1aDepartment of Pediatrics, Baqiyatallah University of Medical Sciences bStudents' Research Committee, Baqiyatallah University of Medical Sciences, Tehran, Iran.
Summary
Congenital afibrinogenemia, a rare inherited bleeding disorder, is caused by absent fibrinogen. This case highlights umbilical cord bleeding as a presenting symptom in newborns with this condition.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Congenital afibrinogenemia is an extremely rare inherited coagulation disorder.
- It is characterized by the complete absence of plasma fibrinogen (Factor I).
- Approximately 250 cases have been documented globally.
Observation:
- This report details a specific case of congenital afibrinogenemia.
- The patient presented with significant umbilical cord bleeding.
- This symptom is a critical indicator in newborns.
Findings:
- The case confirms umbilical cord bleeding as a manifestation of congenital afibrinogenemia.
- This underscores the importance of early diagnosis in neonates.
- Absence of fibrinogen directly impacts hemostasis.
Implications:
- Early identification of congenital afibrinogenemia is crucial for managing bleeding risks.
- Understanding rare bleeding disorders aids in developing targeted therapies.
- This case contributes to the limited global literature on afibrinogenemia.
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