Jun 2015 DOI 10.14302/issn.2470-0436.jos-14-528
Sanjay SrinivasanCorresponding author
Ophthalmology and Visual Sciences, Khoo Teck Puat Hospital, Singapore
A previously healthy 25 year old Chinese male presented with left eye blurring of vision and was diagnosed to have left eye branch retinal vein occlusion. Initial blood investigations and thrombophilia screen were negative. The patient subsequently improved with observation and conservative management, with no further events over a 2 year follow up period. The blood investigations were repeated 2 years later as part of a health check-up and he was then tested to be heterozygous for the factor V leiden mutation. This was confirmed by sequencing of his genome that identified the mutation. The laboratory was contacted to provide details regarding the testing methods and was noted to have performed the two tests via different methods. While false negative rates in genetic testing are low, we believe that there is greater need to standardize testing methods as ascertaining genetic conditions play a great role in clinical diagnosis, treatment and prognosis. Clinicians should be aware of the limitations of these tests. When clinical suspicion is high, there may be a role for repeat tests with different methods or in different laboratories.
Aug 2024 DOI 10.14302/issn.2372-6601.jhor-24-5108
Zakaria Baniamer AnsamCorresponding author
Hereditary thrombotic diseases, or inherited bleeding disorders, are a group of genetic conditions that disrupt normal blood coagulation. These diseases result from mutations in genes encoding blood coagulation factors or other regulatory proteins, impairing the body's ability to regulate bleeding and clotting. The most common inherited clotting disorders are hemophilia A and B, which are associated with deficiencies in clotting factors VIII and IX, respectively. Von Willebrand disease (VWD) is another prevalent disorder characterized by a deficiency or dysfunction of the Von Willebrand factor, a protein essential for coagulation. Additionally, the Factor V Leiden mutation is linked to an increased risk of blood clots. The prevalence of inherited coagulation disorders varies significantly by region and subpopulation. It is estimated that 5,000 to 10,000 male newborns are born with hemophilia A or B each year. Von Willebrand disease is much more common, affecting about 1% of the global population. The Factor V Leiden mutation is found in significant percentages of certain populations, with 3–8% of Caucasians being carriers. While antithrombin deficiency is more common in some areas, the incidence of other inherited clotting disorders, such as Factor XI, protein C and S deficiencies, and VWD, varies widely worldwide. This study discusses the incidence of inherited clotting disorders and their impact on affected individuals and their families. It also covers new advancements in disease management, alternative therapy approaches, and contemporary diagnostic techniques, aiming to improve diagnoses, treatments, and outcomes for patients with hereditary clotting disorders.