There are hundreds of serious diseases that can be passed down genetically from parent to child. In many cases, the parents do not have the disease itself but have the gene that causes it. When they have a child with another person who has the same mutation, the chances of their child having the actual disease increases greatly. Here are five serious health conditions that can be passed down through your genes:
Sickle Cell Anemia
Sickle cell anemia occurs because of a defect in the blood cells, specifically in the hemoglobin. Instead of being round and smooth, the blood cells are stiff and characteristically sickle-shaped. Because of this, the normal flow of blood throughout the body is interrupted. Symptoms include:
• Anemia because the abnormally shaped red blood cells can’t function like they should
• Episodes of excruciating pain. These are called crises. They can last for hours or even days
• Swollen hands and feet
• Susceptibility to infections
• Increased risk of other health issues such as stroke
• Jaundice, or the yellow of the eyes and skin
Sickle cell anemia mostly afflicts African Americans.
This disease is well-known because it affected several of the descendants of Queen Victoria. This inherited disease happens because the body lacks some of the blood clotting factors that help to heal wounds. A healthy person has 13 clotting factors, but a person with hemophilia has either something wrong with clotting factor VII, clotting factor VIII and clotting factor IX. A few people lack clotting factor X.
Most often, symptoms don’t start to appear until after the baby is able to crawl or walk around. When the symptoms arrive they include:
• Pain and swelling in the joints or the appendage when there’s a bleed
• Large bruises that take a long time to heal
• Excessive bleeding from small cuts
• Frequent nosebleeds
• Blood in the stool or urine
In this inherited disease, the fluids that usually lubricate the organs or help with digestion are thick and sticky. Because of this, they clog organs such as the lungs, the organs in the digestive system and even the sweat glands. The symptoms of cystic fibrosis are different for different patients, but they include:
• Increased risk intestinal obstruction in a newborn
• Failure to thrive
• Large, bad smelling stools
• Coughing and wheezing
• Very salty sweat
• Sinus infections
• Clubbed toes and fingertips
Fragile X Syndrome
This condition is the result of mutation on the FMR1 gene that’s found on the X chromosome. More boys are affected than girls, most likely because boys only have one X chromosome while girls have two. Fragile X causes intellectual and learning disabilities that range from mild to severe, and medical experts claim it is a cause of autism. Fragile X patients suffer from shyness and social anxiety and may panic when they are placed in unfamiliar situations. They have larger than normal ears, very soft skin, flat feet, double-jointed fingers and a face that is unusually long and narrow. These features manifest when the child reaches puberty.
Marfan syndrome is an inherited disorder that attacks the connective tissue, especially connective tissue that support the eyes, skeleton, heart and blood vessels. People who have this disorder are very tall and thin, with extremely long arms, legs and fingers. Marfan syndrome can be a mild disease or it can be life-threatening if it affects a vital organ such as the heart. People who have Marfan syndrome need to have regular check ups to troubleshoot potential problems and stay healthy.
As of 2018 these diseases are not preventable. Potential parents can opt for genetic testing to see whether they are carriers of the genetic mutations that cause these diseases. They can also utilize devices such as the FDA approved 23andMe, which costs $79 and can be ordered from amazon.com. Another genetic testing kit available on amazon.com is Vitagene DNA test kit at $57.66.
Edited by: Jessa (Feb. 15, 2019)