Expert Reviewed By: Dr. Brandon Colby MD
Abnormal bleeding is a common symptom of various health conditions and can manifest in different forms, such as prolonged or spontaneous bleeding, easy bruising, or excessive bleeding after injury. Genetic testing has emerged as a valuable tool in understanding, diagnosing, and managing bleeding disorders. This article explores recent studies on genetic testing for abnormal bleeding, focusing on Leukocyte Adhesion Deficiency Type III (LAD-III), GFI1B-related bleeding disorder, and von Willebrand disease.
Leukocyte Adhesion Deficiency Type III (LAD-III)
LAD-III is a rare genetic disorder characterized by recurrent infections, severe bleeding, and impaired wound healing. It is caused by mutations in the FERMT3 gene, which plays a crucial role in the adhesion and migration of white blood cells and platelets. Genetic testing has been instrumental in identifying novel mutations in the FERMT3 gene that cause LAD-III.
Novel Deletion in FERMT3 in a Turkish Family
A recent study published in the Journal of Clinical Immunology reports a novel deletion in the FERMT3 gene causing LAD-III in a Turkish family. The researchers identified the genetic mutation through whole-exome sequencing and confirmed its impact on protein function. This discovery expands the spectrum of FERMT3 mutations and highlights the importance of genetic testing in diagnosing LAD-III.
Nonsense Mutation in FERMT3 in a Pakistani Family
Another study published in Frontiers in Genetics reports a novel homozygous FERMT3 nonsense mutation causing LAD-III in a Pakistani family. The researchers used Sanger sequencing to identify the mutation and demonstrated its impact on protein expression. This finding underscores the role of genetic testing in diagnosing LAD-III and guiding appropriate treatment strategies.
GFI1B-Related Bleeding Disorder
Mutations in the GFI1B gene can cause a bleeding disorder characterized by thrombocytopenia (low platelet count), red cell anisopoikilocytosis (abnormal red blood cell shapes and sizes), and platelet dysfunction. Genetic testing can help identify GFI1B mutations and provide a definitive diagnosis for affected individuals.
GFI1B Mutation and Platelet Function Defect
A study published in Blood identifies a GFI1B mutation causing a bleeding disorder with thrombocytopenia, red cell anisopoikilocytosis, and platelet dysfunction. The researchers used next-generation sequencing to identify the mutation and characterized its impact on platelet function. This finding highlights the value of genetic testing in diagnosing GFI1B-related bleeding disorders and informing treatment decisions.
Von Willebrand Disease (VWD)
VWD is an inherited bleeding disorder caused by a deficiency or dysfunction of von Willebrand factor (VWF), a protein that plays a crucial role in blood clotting. Genetic testing can help identify VWF gene mutations and provide a definitive diagnosis for affected individuals.
Laboratory Diagnosis and Genetic Analysis of VWD
An article published in Haemophilia discusses laboratory diagnosis, activity assays, and genetic analysis of VWD. The authors emphasize the importance of comprehensive testing, including genetic analysis, to accurately diagnose VWD and distinguish it from other bleeding disorders. Genetic testing can also help identify carriers of VWD and inform family planning decisions.
Conclusion
Genetic testing has proven to be a powerful tool in understanding, diagnosing, and managing abnormal bleeding disorders, including LAD-III, GFI1B-related bleeding disorder, and von Willebrand disease. By identifying the underlying genetic mutations, healthcare professionals can provide accurate diagnoses, guide treatment decisions, and offer genetic counseling to affected individuals and their families.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)