Carrier Identification in Families of known Factor XIII Deficient Patients.

Abstract

Objective: The aim of the study is to determine the prevalence of carriers within families affected by factor XIII deficien-cy, in interior Sindh population with the objective of understanding genetic distribution and potential implication for dis-ease management and counseling.
Methodology: Cross-sectional study approved by Institutional Review Board (IREB) Baqai University was conduct at Department of Baqai Institute of Hematology at Baqai Medical University Karachi At Hemophilia Center Hyderabad and Research diagnostic lab Jamshoro The immediate family members of known carriers of factor XIII were enrolled. The Berichrom® Factor XIII assay was performed. The study highlighted the role of FXIII activity and the identification of mu-tations in FXIII Gene in the identification of carriers in FXIII deficient families, providing a simple, cost-effective approach to improve patient care and genetic counselling.
Results: A statistically significant difference in FXIII activity between carriers and non-carriers is shown by a one-way ANOVA (F = 19.44, p =.000) The variance in FXIII activity is mostly due to variations between groups rather than within-group variability, as indicated by the high F-value and low p-value.
Conclusion: This study concluded that Factor XIII and bleeding score are notable for identifying carriers in FXIII-deficient families also these measures to clinical practice can improve diagnosis, patient care, and genetic counselling
Keywords: Intracranial hemorrhage, coagulation tests, consanguinity, and factor XIII. Intracranial hemorrhage, coagula-tion tests, consanguinity, and factor XIII.