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Combined coagulation factor VIII and factor IX deficiency (CDF8F9) in a patient from Lithuania
V Ivaškevičius1, B Pezeshkpoor, A Biswas
1Vytautas Ivaškevičius, Institute of Experimental Haematology and Transfusion Medicine, University Clinic Bonn, Sigmund-Freud-Str. 25, 53127 Bonn, Germany Tel. +49/(0)228/28 71 51 75, Fax -43 20,
Hamostaseologie
|November 9, 2016
Summary
This study reports a rare case of a patient with both Haemophilia A (FVIII deficiency) and Haemophilia B (FIX deficiency), caused by distinct genetic mutations in the F8 and F9 genes.
Area of Science:
- Hematology
- Genetics
- Rare Diseases
Background:
- Haemophilia A (FVIII deficiency) and Haemophilia B (FIX deficiency) are X-linked inherited bleeding disorders.
- Co-occurrence of both haemophilias in a single patient is exceptionally rare, with limited documented cases worldwide.
Observation:
- A patient presented with severe Haemophilia B and mild Haemophilia A.
- Genetic analysis identified distinct mutations in the F8 and F9 genes responsible for each condition.
- The F8 mutation was found to be a likely founder mutation shared with another family.
Findings:
- The patient had severe Haemophilia B (FIX:C <1 IU dl⁻¹) and mild Haemophilia A (FVIII:C 18 IU dl⁻¹).
- Genetic analysis revealed a specific point mutation in the F9 gene (c.223C>T, p.R75X) causing Haemophilia B.
- A distinct point mutation in the F8 gene (c.545A>C, p.D182A) was identified, likely representing a founder mutation.
Implications:
- This case confirms the possibility of Haemophilia A and B co-existing in one individual due to separate genetic defects.
- Understanding these rare genetic combinations is crucial for accurate diagnosis and management of bleeding disorders.
- Identification of founder mutations aids in tracing genetic lineage and understanding disease prevalence in specific populations.
