Prothrombin (factor 2) is a precursor to thrombin, which converts fibrinogen into fibrin, which in turn strengthens protective clot. Deficiency of this factor results in impaired clotting mechanism and manifests as prolonged bleeding. There are two types of prothrombin deficiencies, hereditary and acquired. Hereditary prothrombin deficiency is an autosomal recessive inheritance rare congenital coagulation disorder with a prevalence of approximately 1:2,000,000 in the general population and nearly 100 cases are reported worldwide.
Hereditary hypoprothrobinemia can be either Type I prothrombin deficiency (hypoprothrombinemia) or Type II prothrombin deficiency (dysprothrombinemia). Severity of clinical features varies from easy bruisability to severe intracranial hemorrhage and hematoma. It depends on prothrombin activity, patients with prothrombin activity of 5-50% usually bleed following trauma and surgery, while those with prothrombin activity of 2-5%, bleeding is variable and those with activity <1%, present with significant bleeding tendency. Diagnosis is suspected with a prolonged prothrombin time (PT) and an activated partial thromboplastin time (APTT); definite diagnosis is through specific factor assay.
Sirisha Rani Sâ Variable Manifestations of Severe Hypoprothrombinemia (Factor II
Deficiency): 2 Cases
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Last date updated on September, 2014