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Prothrombin Perija: a new congenital dysprothrombinemia in an Indian family
Abstract:
A Western Venezuelan indigenous Yukpa(Irapa) family with moderate bleeding and discrepancy in the prothrombin values by biological and immunological methods is described. The propositus presented biological activity of 2% by the methods in one-stage including Staphylocoagulase and Echis carinatus. Electrophoretic migration of the prothrombin in plasma was normal, while the serum only showed one precipitation arc instead of the three of normal serum. The propositus appeared to be homozygous for the abnormal prothrombin which we have denominated Prothrombin Perijá.
Insights
A novel abnormal prothrombin, Prothrombin Perijá, was identified in a Western Venezuelan indigenous Yukpa family exhibiting bleeding disorders. This variant shows reduced biological activity but normal electrophoretic migration in plasma.
Area of Science:
- Hematology
- Biochemistry
- Genetics
Background:
- Describes a case study of a Western Venezuelan indigenous Yukpa (Irapa) family.
- Focuses on a member presenting with moderate bleeding tendencies.
- Highlights discrepancies in prothrombin value measurements using biological versus immunological methods.
Observation:
- The propositus exhibited only 2% biological prothrombin activity via one-stage assays (Staphylocoagulase and Echis carinatus).
- Electrophoretic analysis revealed normal prothrombin migration in plasma.
- Serum electrophoresis showed a single precipitation arc, deviating from the normal three arcs.
Findings:
- Identified a novel abnormal prothrombin variant, designated Prothrombin Perijá.
- The propositus appears to be homozygous for this abnormal prothrombin.
- The variant demonstrates significantly reduced biological coagulant function.
Implications:
- Contributes to the understanding of prothrombin gene mutations and their clinical manifestations.
- Provides insight into the genetic basis of bleeding disorders within the Yukpa population.
- Highlights the importance of employing diverse diagnostic methods for accurate prothrombin assessment.