SNP Shot: Genomic Insights

Factor X deficiency is a rare bleeding disorder where the severity differs from person to person. Symptoms can start at any age, but the most serious cases are usually seen in children. Common signs include nosebleeds, easy bruising, skin bleeding, gum bleeding, blood in the urine (hematuria), and prolonged or heavy bleeding after surgery or injuries. Women with this deficiency may experience heavy or long menstrual periods (menorrhagia), excessive bleeding during childbirth, and a higher chance of miscarriage. Bleeding into joints (hemarthrosis) is also possible. Individuals with severe factor X deficiency are at greater risk of dangerous bleeding inside the head (intracranial hemorrhage), in the lungs (pulmonary hemorrhage), or in the digestive system, which can be life-threatening.

Inheritance:

If factor X deficiency is due to changes (mutations) in the F10 gene, it follows an autosomal recessive inheritance pattern. This means that both copies of the gene in each cell must have these mutations for the condition to develop. Parents of a person with this type of factor X deficiency each carry one mutated copy of the gene, but they generally don't show any signs or symptoms of the condition. Acquired factor X deficiency, on the other hand, is not passed down through families and usually affects people without any family history of the disorder.