Factor X Deficiency

Alternative Names

  • Stuart-Prower Factor Deficiency
  • F10 Deficiency
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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Coagulation defects, purpura and other haemorrhagic conditions

OMIM Number

227600

Mode of Inheritance

Autosomal recessive

Gene Map Locus

13q34

Description

Factor X deficiency is a rare inherited bleeding disorder that causes abnormal blood coagulation, resulting from a shortage of the plasma protein factor X. Factor X is one of the vitamin K-dependent serine proteases, playing a crucial role in the coagulation cascade, as the first enzyme in the common pathway of thrombus formation. It is estimated that Factor X deficiency affects 1 individual per 500,000-1,000,000 population worldwide. Factor X deficiency is inherited as an autosomal recessive trait; with heterozygotes most often remaining clinically asymptomatic. The clinical phenotype is of variable hemorrhagic symptoms in homozygous individuals, including easy bruising, hematuria, hemarthroses, soft tissue hemorrhages, menorrhagia, and recurrent epistaxis.

Factor X deficiency is associated with mutations in F10 gene, which encodes coagulation factor X.

Epidemiology in the Arab World

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Other Reports

Morocco

Boxus et al. (1997) described a 3 year-old boy, born to consanguineous Moroccan parents, with the rare combination of congenital factors VII and X deficiency. Originally, the child had a prolonged partial thromboplastin time discovered fortuitously. This finding led to the diagnosis of combined factors VII and X deficiency. His siblings had the same deficiencies.

Oman

Pinotti et al. (2003) investigated an Omani family with three members affected with factor X (FX) deficiency. Two of the affected siblings presented with bleeding from an early age. The eldest sister (8 years old) presented at the age of seven months with gum bleeding, which required transfusion after her first tooth eruption, and this was followed by repeated episodes of gum, nasal, oral and vaginal bleedings. Her brother (one-year-old) presented with prolonged bleeding from the umbilical stump and penile swelling after circumcision. On the other hand, their female cousin presented at a later age of six years with repeated episodes of pain and swelling of the calf muscles. These children were investigated with routine coagulation assays and the FX activity was determined in a PT-based assay by using FX-deficient plasma. In all three patients, the coagulation parameters were elevated. The FX gene of the patients was screened for mutations. All three patients were found to be homozygous for a G to A transition at codon 381 of the FX cDNA. The consanguineous parents of the siblings, their unaffected sibling and their aunt were found to be heterozygous for this mutation. No evidence of other thrombolic defects was detected in any family member. Pinotti et al. (2003) concluded that the molecular analysis of the gene did not fully explain the hemorrhagic heterogeneity seen in FX deficiency.

Sudan

El Kalla and Menon (1991) described a baby boy who was born to second-degree consanguineous couple from Sudan. He was admitted at 8 days old with a history of hematemesis and skin hematoma since the first day of life. After treatment, he remained symptom free until he was 8 months old.

United Arab Emirates

El Kalla and Menon (1991) described four neonates with congenital Factor X deficiency who presented soon after birth with bleeding episodes. The first case is of a full-term baby boy who was born to a first-degree consanguineous couple. At 3 days old, the infant developed anemia and jaundice with irritability and bulging fontanel. Initially, he was on replacement schedule every third day with a post-infusion Factor X level of more than 80%. At four years of age, the child was normal clinically and neurologically with no bleeding manifestations, except for occasional skin petechia and ecchymoses. The second case was for a full-term baby girl who was born to a first-degree consanguineous couple. At her third day of life, she started to have spontaneous bleeding and bleeding from injection sites. In spite of treatment, she sustained massive intraventricular and intracerebral hemorrhage and expired at 4 months. The third case was of a baby boy who was admitted with a history of hematemesis and skin hematoma since the first day of life [See also: Sudan > El Kalla and Menon, 1991]. The fourth case was a of a baby girl born to a first-degree consanguineous couple. The infant was admitted at 4 days old with a history of bleeding from the umbilical stump and skin petechia. At two years of age, Factor X replacement therapy resulted in no serious clinical bleeding tendency. Factor X analysis of the parents of the first patient showed Factor X activity between 60-70%, indicating a heterozygous defect. Prenatal diagnosis of a subsequent pregnancy in the mother of patient 1 was done. Fetal blood sampling at 20 weeks of gestation confirmed a Factor X deficiency in the fetus and the pregnancy was terminated.

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