Contributions
Abstract: PB1748
Type: Publication Only
Background
Hemophilia A and B are X-linked recessive hemorrhagic disease. Due to this type of inheritance, males are usually affected, but girls are carriers. Factor levels are usually detected around 50 % because only one chromosome is affected in carriers. Inconsistently, it has been reported that factor activity can be detected in a wide range of 22 % -116 % as a result of random inactivation (lyonization) of one of two X chromosomes. It is specified that factor levels may be very low due to excessive inactivation in a significant part of the hemophilia carriers, which creates a risk of bleeding in carriers.
Aims
In this study, we aimed to investigate the role of bleeding score and factor levels in detecting hemophilia carriers.
Methods
Bleeding Assessment Tool (BAT) for hereditary factor deficiencies of the International Society on Thrombosis and Haemostasis (ISTH/SSC) were applied to the mother and sisters of 32 hemophilia patients who were followed-up in Dr Behçet Uz Children's Diseases and Surgery Training and Research Hospital. Mothers whose at least one of the other members of the family and their sons had hemophilia, mothers with more than one hemophilic son and girls whose father had hemophilia were evaluated as an obligate carrier. Sisters or mothers who do not meet the obligatory carrier criteria but whose siblings or sons are hemophilic were identified as possible carriers. Factor activity of obligate or probable carriers was studied after their informed consent was obtained.
Results
Conclusion
Session topic: 33. Bleeding disorders (congenital and acquired)
Keyword(s): Hemophilia, factor VIII, Factor IX, Bleeding disorder
Abstract: PB1748
Type: Publication Only
Background
Hemophilia A and B are X-linked recessive hemorrhagic disease. Due to this type of inheritance, males are usually affected, but girls are carriers. Factor levels are usually detected around 50 % because only one chromosome is affected in carriers. Inconsistently, it has been reported that factor activity can be detected in a wide range of 22 % -116 % as a result of random inactivation (lyonization) of one of two X chromosomes. It is specified that factor levels may be very low due to excessive inactivation in a significant part of the hemophilia carriers, which creates a risk of bleeding in carriers.
Aims
In this study, we aimed to investigate the role of bleeding score and factor levels in detecting hemophilia carriers.
Methods
Bleeding Assessment Tool (BAT) for hereditary factor deficiencies of the International Society on Thrombosis and Haemostasis (ISTH/SSC) were applied to the mother and sisters of 32 hemophilia patients who were followed-up in Dr Behçet Uz Children's Diseases and Surgery Training and Research Hospital. Mothers whose at least one of the other members of the family and their sons had hemophilia, mothers with more than one hemophilic son and girls whose father had hemophilia were evaluated as an obligate carrier. Sisters or mothers who do not meet the obligatory carrier criteria but whose siblings or sons are hemophilic were identified as possible carriers. Factor activity of obligate or probable carriers was studied after their informed consent was obtained.
Results
Conclusion
Session topic: 33. Bleeding disorders (congenital and acquired)
Keyword(s): Hemophilia, factor VIII, Factor IX, Bleeding disorder