SNP Shot: Genomic Insights

Prekallikrein deficiency is a blood disorder that typically doesn't cause any noticeable health issues. Individuals with this condition have a prolonged activated partial thromboplastin time (PTT) in blood tests, a result that usually indicates a bleeding disorder. Despite this, people with prekallikrein deficiency usually don't experience bleeding problems. This condition is often identified incidentally during blood tests performed for unrelated medical reasons.

While rare, some individuals with prekallikrein deficiency have reported blood clot-related issues like heart attacks, strokes, deep vein thrombosis (blood clots in the arms or legs), nosebleeds, or increased bleeding following surgery. However, these conditions are common and often linked to other risk factors, making it uncertain if they are directly related to the prekallikrein deficiency.

Inheritance:

Prekallikrein deficiency follows an autosomal recessive inheritance pattern. This means that a person must inherit two copies of the mutated gene, one from each parent, to develop the condition. Parents who each carry only one copy of the mutated gene are usually unaffected and show no signs or symptoms.