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Hereditary plasma thromboplastin antecedent (PTA, FXI) deficiency in a Saudi family
1Department of Haematology, King Abdul Aziz University Hospital, King Saud University, Riyadh, Saudi Arabia.
Insights
A Saudi family in Riyadh exhibits a rare factor XI (PTA) deficiency. This genetic bleeding disorder, characterized by low clotting activity, was identified in two severely affected members and their parents.
Area of Science:
- Hematology
- Human Genetics
Background:
- Factor XI (PTA) deficiency is a rare inherited bleeding disorder.
- Consanguineous marriages can increase the prevalence of rare genetic disorders.
Observation:
- A Saudi family in Riyadh presented with a rare case of factor XI deficiency.
- Nine family members were evaluated, revealing two individuals with severe deficiency (0.01-0.02 i.u./ml) and CRM-negative plasma.
- Parents, who were first cousins, showed mild factor XI deficiency (0.048 and 0.33 i.u./ml).
Findings:
- Severe factor XI deficiency was confirmed by low clotting activity and antigen levels.
- Bleeding manifestations included menorrhagia and post-extraction bleeding, leading to iron deficiency anemia in one patient.
- This represents the first documented family with PTA deficiency in Saudi Arabia.
Implications:
- Highlights the importance of genetic counseling in consanguineous populations.
- Contributes to understanding the genetic epidemiology of factor XI deficiency in the Middle East.
- Emphasizes the need for early diagnosis and management of bleeding disorders in affected families.
Abstract:
A rare case of factor XI (PTA) deficiency was discovered in a Saudi family in the Riyadh area. Nine members of the family were studied. Two were found to have a severe PTA deficiency; levels of factor XI clotting activity were 0.01 i.u./ml and 0.02 i.u./ml respectively. Both plasmas were markedly deficient in factor XI antigen and appeared to be negative for cross-reactive material (CRM-). The parents were first cousins and both were found to have a minor PTA deficiency. Factor XI levels were: mother 0.048 i.u./ml and father 0.33 i.u./ml. Another sibling was found to have a FXI level of 0.47 i.u./ml. Menorrhagia and bleeding for 1 day after tooth extraction were the main bleeding manifestations found in one member with severe PTA deficiency. Clinically this member presented with iron deficiency anaemia. Other family members had no significant history of bleeding tendency. This is the first report of a Saudi Arabian family with PTA deficiency.