Expert Reviewed By: Dr. Brandon Colby MD
Spherocytosis is a genetic blood disorder that affects the shape and function of red blood cells, leading to a range of symptoms and health complications. In this article, we will explore the role of genetic testing in understanding, diagnosing, and managing dominant spherocytosis, a common form of the disease.
What is Spherocytosis?
Spherocytosis is a hereditary condition that causes red blood cells to become misshapen and fragile. Instead of being flexible and disc-shaped, the cells become spherical, which makes them less able to carry oxygen and more prone to breaking apart. This can lead to anemia, jaundice, and an enlarged spleen, among other symptoms. There are two forms of spherocytosis: dominant and recessive. Dominant spherocytosis is more common and generally less severe than the recessive form.
Diagnosing Spherocytosis
Diagnosing spherocytosis typically involves a combination of blood tests, a physical examination, and a review of family medical history. Blood tests can reveal anemia, abnormal red blood cell shapes, and increased levels of bilirubin, a substance that is produced when red blood cells break down. A physical examination may reveal an enlarged spleen, which is a common complication of spherocytosis. Finally, a family history of the condition can help confirm the diagnosis.
Genetic Testing for Spherocytosis
Genetic testing can provide valuable information about the specific genetic mutations that cause spherocytosis, which can help guide treatment and management decisions. There are several different genes that can be involved in the development of spherocytosis, and identifying the specific mutation can help determine the severity of the condition and the best course of treatment.
Uses of Genetic Testing for Diagnosis
Genetic testing can help confirm a diagnosis of spherocytosis in cases where the results of blood tests and physical examinations are inconclusive. By identifying the specific genetic mutation responsible for the condition, doctors can be more confident in their diagnosis and can provide more targeted treatment recommendations.
Uses of Genetic Testing for Treatment and Management
Once a diagnosis of spherocytosis has been confirmed, genetic testing can help guide treatment and management decisions. For example, knowing the specific gene mutation can help doctors determine the severity of the condition and the likelihood of complications. This information can be used to decide whether treatments such as blood transfusions or surgical removal of the spleen are necessary.
Uses of Genetic Testing for Family Planning
For individuals with a family history of spherocytosis, genetic testing can provide valuable information for family planning purposes. By identifying whether a person carries the gene mutation responsible for the condition, couples can make informed decisions about their reproductive options. This can be particularly important for those with a history of recessive spherocytosis, which can be more severe and may require more aggressive treatment.
Conclusion
Genetic testing plays an important role in understanding, diagnosing, and managing dominant spherocytosis. By identifying the specific genetic mutations responsible for the condition, doctors can provide more targeted and effective treatment options, and individuals with a family history of the condition can make more informed decisions about their reproductive options. If you or a loved one has been diagnosed with spherocytosis or has a family history of the condition, consider discussing the benefits of genetic testing with your healthcare provider.
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)