Abstract Number: PB0190
Meeting: ISTH 2020 Congress
Background: Congenital Factor X (FX) deficiency is a rare bleeding disorder with autosomal recessive inheritance. It may present with bleeding from umbilical cord, gastrointestinal system, mucosa, and central nervous system (CNS). As for the types of genetic mutation, missense and nonsense mutations caused by single-base substitutions were the most prevalent. FX deficiency results prolonged partial thromboplastin time (PTT) and prothrombin time (PT) with normal thrombin time (TT).
Aims: We herein present a girl with factor X deficiency and isolated PT prolongation.
Methods: FX activity and FX antigen levels were assessed. Genomic DNA was extracted from peripheral blood leukocytes of the proband for sequencing.
Results: A full-term infant with umblical bleeding and cephal hematoma was admitted to hospital on the 7th day of life. Her family had consanginous marriage. Coagulation tests showed prolonged PT (>170 s) and normal PTT. Her factor analyses showed that factor X level was 0.3%, Factor VII was 80%, and other factors levels were normal. She was treated with prothrombin complex concentrate (PCC) until discharge. On the 50th day of life, she was readmitted to the hospital with gastrointestinal bleeding. PCC was immediately given, then she had a right sided focal convulsion. Cranial tomography showed parenchymal hematoma (24×20 mm) in left frontal lobe and left subdural hematoma. Anticonvulsant therapy and daily PCC (20 U/kg) and FFP replacement every 12 hours were given for 15 days. Cranial imaging showed organization of the hematoma and PCC was given every 36 hours from 3rd week till discharge. Molecular analysis of the factor X gene revealed a homozygous mutation in Exon 2 (Gly51Arg), and her mother and father was heterozygous for this mutation.
Conclusions: This variant in Exon 2 (Gly51Arg) was reported before by Peyvandi et al. with prolonged PT and PTT which was associated with intracranial hemorrhage.
To cite this abstract in AMA style:Gurlek Gokcebay D, Kacar D, Sahin S, Yarali N, Ozbek NY, Girolami A. Congenital Factor X Deficiency with Isolated Prothrombin Time Prolongation [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/congenital-factor-x-deficiency-with-isolated-prothrombin-time-prolongation/. Accessed September 29, 2023.
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