Genetically passed down from one generation to the next, hereditary diseases are contagious. These disorders have a substantial influence on a person's health and quality of life.
Genetic testing is essential for determining the likelihood that such diseases may be inherited, and it can assist people in making wise health-related decisions. This article will look at common hereditary diseases, talk about when to think about genetic testing, and give details on the testing procedure.
What are the Causes of Hereditary Diseases?
Genetic abnormalities, or mutations are the primary cause of hereditary diseases. These genetic changes may make a person more vulnerable to developing specific illnesses inlcuding Cystic fibrosis, sickle cell anaemia, Huntington's disease, Duchenne muscular dystrophy, and many other conditions. It's critical to understand any specific hereditary conditions that may run in your family.
Let's take a closer look at the most prevalent inherited disorders and recognise them in the prenatal period due to advancements in medicine. For a healthier future, this can assist us in preventing them in the following generation.
Sickle Cell Disorder
Red blood cells with a disc shape are affected by sickle cell anaemia, a hereditary condition that causes them to take the shape of a crescent or sickle. These cells easily divide, which reduces the number of healthy red blood cells and obstructs blood flow. The symptoms include hand and foot pain, fatigue, irritability, jaundice, infection, and even bedwetting.
Instead of the usual 120 days, the Sickle cells barely last 10 to 20 days. This may cause long-term harm to the cerebellum, heart, lungs, kidneys, and other body organs.
Cystic Fibrosis
Cystic fibrosis is a congenital, fatal genetic disorder of the sweat and mucus glands that over time impairs breathing and causes recurrent lung infections.
By blocking the pancreatic tissue, the mucus can result in food malabsorption. People with this ailment have two copies of the faulty gene, one from each parent, increasing their risk of developing the disease by 25%. Breathing problems, persistent lung infections, digestive problems, and reproductive problems are among the signs and symptoms of cystic fibrosis. One copy in either of the parent is enough to make someone a carrier.
Haemophilia A
A hereditary condition known as haemophilia A or factor VIII deficiency is brought on by a lack of functioning factor VIII, also known as clotting protein. Despite being present in the genes, spontaneous mutation accounts for about 30% of instances. This condition causes people to bleed more frequently. Internal bleeding can occur in joints and muscles or external bleeding might result from small incisions, trauma, or dental operations.
The doctor will enquire about the family history of bleeding if the patient's bleeding doesn't stop.
Down Syndrome
Also known as Trisomy Syndrome, Down Syndrome is a chromosomal condition brought on by aberrant cell division, which adds a second copy of chromosome 21 to the body.
Individuals with Down Syndrome may also suffer thyroid or heart illness, intellectual disabilities, developmental delays, and a distinctive facial feature. Slurred speech, hearing loss, and vision problems are all potential symptoms.
Also Read – Progeria (Benjamin Button) Disease – Causes, Symptoms, Treatments
Genetic testing for hereditary diseases
Analysis of family history: Evaluating your family history is the first step in determining whether genetic testing is necessary. Take note of any known hereditary diseases or patterns of similar health conditions among your close relatives. If multiple family members have been diagnosed with the same disease or if there is a history of early-onset conditions, it may be indicative of a hereditary component.
Preconception and Prenatal Testing: If you are planning to start a family or are already pregnant, preconception and prenatal genetic testing can provide valuable information about the risk of passing on hereditary diseases to your children. These tests can identify carrier status or the presence of specific genetic mutations in both parents, allowing for informed family planning decisions or early interventions if necessary.
Newborn Screening: Newborn screening programs are implemented to detect certain hereditary diseases shortly after birth. These tests aim to identify conditions that may not be evident at birth but can cause significant health problems if left untreated. They typically involve collecting a small blood sample from the newborn, which is then analyzed for specific genetic markers.
Diagnostic Genetic Testing: When a person exhibits symptoms that could be related to a particular hereditary condition, diagnostic genetic testing is carried out. These tests are intended to validate the diagnosis and pinpoint the underlying genetic mutation that is the cause of the illness. Diagnostic testing can be helpful in assisting afflicted individuals and their families with genetic counselling, determining the best course of therapy, and providing prognostic information.
Hereditary diseases have a significant impact on individuals and their families, but genetic testing can play a crucial role in identifying the risk and providing valuable information for informed decision-making. By utilizing the advancements in genetic testing, individuals can take proactive steps toward their health and well-being, ensuring a better quality of life for themselves and future generations.
Agilus Diagnostics, a subsidiary of Fortis Healthcare Limited
