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SPLTRAK Abstract Submission
An Identified Mutational Hotspot in Two Different Exons of Fibrinogen Alpha Gene of Congenital Fibrinogen Deficient Patients. Background: Inherited fibrinogen deficiency is transmitted as an autosomal recessive disease with an absent level of activated fibrinogen protein in plasma. This disorder has manifested its strong association with cousin marriage in our set of population with swiftly increasing no. of new cases each year. Aim: To search out for spectrum of mutation in previously identified mutations detected in all three genes of fibrinogen (FGA alpha, beta and gamma) Methods: This descriptive cross sectional study in concordance with declaration of Helsinki 2000 was conducted in Karachi, Pakistan. All diagnosed cases of inherited factor 1 deficiency were included.   Results: Total 14 patients were included in this study. Out of 14 patients, 5 were shown to have similar nonsense mutation in exon 4 and six same missense mutation in exon 5 of fibrinogen alpha gene. This gene is also reported as the mostly frequently affected gene with larger no. of identified mutations in global research data. Conclusion: Rarity of inherited Factor 1 absence is debatable now due to its swiftly increasing incidence especially in our region where cousin marriages are accustomed. Although fibrinogen gamma gene is the largest amongst all three genes of fibrinogen protein with 10 exons but spectrum of mutations in fibrinogen alpha gene has proven its frequent involvement and recognized as a major contributor in causing and exhibiting manifestation of disease.   Disclosure of Interest: None Declared.   Key words: Spectrum of mutation, Inherited bleeding diathesis, consanguinity, Factor 1 deficiency, Fibrinogen protein
Tehmina Khan1, Arshi Naz1, Anne Goodeve2, Shariq Ahmed1, Tahir Shamsi1, johannes Oldenburg3
1NIBD, Karachi, Pakistan/2University of Sheffield , sheffield, United Kingdom/3Institute of experimental transfusions Medicine, Bonn, Germany

An Identified Mutational Hotspot in Two Different Exons of Fibrinogen Alpha Gene of Congenital Fibrinogen Deficient Patients. Tehmina Nafees Sonia Khan, Arshi Naz, Arijit Biswas, Anne Goodeve, Nisar Ahmed, Shariq Ahmed, Tahir Shamsi, Johannes Oldenburg Background: Inherited fibrinogen deficiency is transmitted as an autosomal recessive disease with an absent level of activated fibrinogen protein in plasma. This disorder has manifested its strong association with cousin marriage in our set of population with swiftly increasing no. of new cases each year. Aim: To search out for spectrum of mutation in previously identified mutations detected in all three genes of fibrinogen (FGA alpha, beta and gamma) Methods: This descriptive cross sectional study in concordance with declaration of Helsinki 2000 was conducted in Karachi, Pakistan. All diagnosed cases of inherited factor 1 deficiency were included.   Results: Total 14 patients were included in this study. Out of 14 patients, 5 were shown to have similar nonsense mutation in exon 4 and six same missense mutation in exon 5 of fibrinogen alpha gene. This gene is also reported as the mostly frequently affected gene with larger no. of identified mutations in global research data. Conclusion: Rarity of inherited Factor 1 absence is debatable now due to its swiftly increasing incidence especially in our region where cousin marriages are accustomed. Although fibrinogen gamma gene is the largest amongst all three genes of fibrinogen protein with 10 exons but spectrum of mutations in fibrinogen alpha gene has proven its frequent involvement and recognized as a major contributor in causing and exhibiting manifestation of disease.   Disclosure of Interest: None Declared.   Key words: Spectrum of mutation, Inherited bleeding diathesis, consanguinity, Factor 1 deficiency, Fibrinogen protein