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Fibrinogen Barcelona II: a new case of A alpha 16 Arg----His substitution
1Servei d'Hematologia, Hospital de la Sta Creu i Sant Pau, Barcelona, Espanya.
Abstract:
We describe a new congenital dysfibrinogenemia: fibrinogen Barcelona II in 8 members of a family with no major bleeding or thrombotic tendency. Incubation of this fibrinogen with thrombin at low concentration releases half of the expected normal fibrinopeptide A (FPA) and with some delay it releases an abnormal FPA. Abnormal FPA was purified and sequenced and showed a change in the normal amino acid sequence: arginine in position 16 has been substituted by a histidine. This is another case of dysfibrinogenemia in which A alpha 16 Arg----His has been identified as the cause of abnormal behavior of the fibrinogen molecule.
Insights
A new congenital dysfibrinogenemia, fibrinogen Barcelona II, was identified in a family. This fibrinogen variant exhibits altered fibrinopeptide A release due to an arginine to histidine substitution at position 16.
Area of Science:
- Hematology
- Biochemistry
- Genetics
Background:
- Congenital dysfibrinogenemia represents a group of inherited disorders characterized by abnormal fibrinogen function.
- These disorders can lead to a range of clinical manifestations, including bleeding or thrombotic complications, though some cases are asymptomatic.
Observation:
- A novel fibrinogen variant, designated fibrinogen Barcelona II, was identified in eight members of a single family.
- No significant bleeding or thrombotic tendencies were reported in the affected individuals.
Findings:
- Incubation of fibrinogen Barcelona II with thrombin revealed an abnormal release pattern of fibrinopeptide A (FPA).
- Specifically, reduced release of normal FPA and delayed release of an abnormal FPA were observed.
- Purification and sequencing of the abnormal FPA identified a substitution of arginine with histidine at position 16 of the A alpha chain (A alpha 16 Arg----His).
Implications:
- This finding further elucidates the structure-function relationship of fibrinogen.
- The identified mutation (A alpha 16 Arg----His) provides a molecular basis for the abnormal behavior of fibrinogen Barcelona II.
- This case contributes to the understanding of the genetic and molecular basis of congenital dysfibrinogenemia.