International Journal of Hematology

DOI: 10.1007/s12185-019-02767-y Pages: 51-56

Genetic analysis of a compound heterozygous patient with congenital factor X deficiency and regular replacement therapy with a prothrombin complex concentrate

1. Kanazawa University, Department of Laboratory Sciences, School of Health Sciences, College of Medical, Pharmaceutical and Health Sciences

2. Kanazawa University Graduate School of Medical Science, Department of Clinical Laboratory Science

3. Musashino RedCross Hospital, Department of Pediatrics

4. Kanazawa University, Advanced Science Research Center

5. Nara Medical University Hospital, Department of Pediatrics

6. Kanazawa University Hospital, Department of Hematology

Correspondence to:
Eriko Morishita



Congenital factor X (FX) deficiency is a rare bleeding disorder with an incidence of one in one million. The proband, a 2-year-old girl, exhibited easy bruising and a history of umbilical cord bleeding at birth. Prothrombin time (> 40 s) and activated partial thromboplastin time (65.0 s) were prolonged. Marked declines in FX activity (< 1%) and FX antigen levels (5%) were also observed. Genetic analysis of the proband identified two types of single-base substitutions, c.353G>A (p.Gly118Asp) and c.1303G>A (p.Gly435Ser), indicating compound heterozygous congenital FX deficiency. Genetic analysis of family members revealed that her father and older sister (5-year-old) were also heterozygous for p.Gly118Asp, and that her mother was heterozygous for p.Gly435Ser. To improve the bleeding tendency, the proband received regular replacement of 500 units of PPSB-HT, a prothrombin complex concentrate (PCC). Following continued regular replacement of 500 units of PPSB-HT once per week, the proband has exhibited no bleeding tendencies and no new bruises have been observed. There are no previous report of the use of PPSB-HT for regular FX replacement. Regular replacement therapy with PPSB-HT may be an effective method for preventative control of bleeding tendencies in FX deficiency.

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