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Congenital abnormal fibrinogens
Progress in Clinical and Biological Research
|January 1, 1981
Summary
Inherited fibrinogen disorders, the most common inherited fibrinogen defect, lack a uniform clinical pattern. Diagnosis relies on lab tests showing abnormal fibrinogen to fibrin conversion, confirmed by analyzing purified defective fibrinogen.
Area of Science:
- Hematology
- Molecular Biology
- Biochemistry
Background:
- Congenital and hereditary abnormal fibrinogen represents the most frequent inherited disorder of fibrinogen.
- The condition lacks a distinct clinical presentation, making diagnosis reliant on laboratory findings.
Purpose of the Study:
- To outline the diagnostic approach for inherited abnormal fibrinogen.
- To detail the methods for characterizing fibrinogen abnormalities at molecular levels.
Main Methods:
- Laboratory tests to detect abnormal fibrinogen to fibrin conversion.
- Analysis of purified defective fibrinogen.
- Physical, immunological, functional, and structural analyses.
- Plasmin digestion and polymerization studies.
- Molecular analysis for identifying specific molecular defects.
Main Results:
- Diagnosis is primarily based on laboratory evidence of impaired fibrinogen conversion to fibrin.
- Characterization involves a multi-faceted approach including biochemical and structural analyses.
- Molecular analysis can pinpoint specific amino acid substitutions, as seen in Fibrinogen Detroit, Lille, and München.
Conclusions:
- Diagnosing inherited abnormal fibrinogen requires laboratory confirmation of defective fibrinogen function.
- Comprehensive characterization, including molecular analysis, is crucial for understanding the specific defect.
- Identifying the molecular basis aids in classifying and understanding these rare bleeding disorders.