Genetic diseases or disorders are caused by mutations or changes in the number of chromosomes or genes. This genetic information is passed down through the generations from parents to children. Sometimes parents are only the carrier for the disorder. Some diseases have signs and symptoms as soon as birth, but other disorders may not develop until later on in life through a combination of genes and environmental factors.
Thalassemia
Hemoglobin is the main component of blood and helps carry oxygen to the tissues of the body and carry away carbon dioxide. There are several genetic diseases that can interfere with how this hemoglobin forms, such as thalassemia. Thalassemia is an inherited disease usually from those of Mediterranean, Asian or African descent. Those who have a severe enough form of thalassemia will develop anemia from the body destroying the nonfunctioning red blood cells.
There are two types of thalassemia--alpha and beta. Alpha has four kinds of thalassemia, with the most mild form being only that the trait is there and can be passed on to future generations but no symptoms are present. The most severe form causes death shortly before or after birth. The beta form has a mild form that again is only the trait and can be passed on to future generations, while in the more severe form symptoms of the disease will present within one to two years of life. Treatment is usually blood transfusions, but the severe forms of this disease have so many complications that many do not live beyond 30 to 40 years of age.
Cystic Fibrosis
Cystic fibrosis is an inherited gene that causes the body to produce thicker-than-average mucus, which makes it hard to breath and digest food. Most deaths from this disease are caused by infections of the lungs. Around 30,000 people are affected in the U.S alone. Treatment for this disease involves trying to clear the airway and bolstering the immune system against infections. Symptoms usually start around age two, and at least 70 percent of those with the disease are diagnosed by age two. Those with cystic fibrosis rarely live past 37 years of age.
Muscular Dystrophy
There are nine different forms of dystrophy that all mainly cause degeneration of voluntary muscles. Those who have the disease start to experience symptoms as young children. Generally those with any type of dystrophy will need help moving around and caring for themselves. The more severe forms of this disease tend to affect males more than females. There is no treatment for these diseases. The most severe form of this disease reduces lifespan to the twenties, while the mild form of the disease will allow people an average lifespan with partial paralysis.
Huntington's Disease
This may be one of the most common genetic disorders as almost 250,000 Americans are affected by it or at risk for inheriting it. Huntington's disease is an inherited disease that degenerates the brain, slowly affecting the ability to walk, talk and function at higher levels. Those who have the disease will need constant care. Symptoms present usually in midlife between ages of 30 and 50. The life expectancy once the disease starts is ten to 20 years, and the sooner it appears the shorter life expectancy is. There is no cure for this disease and death is usually a result of complications from this disease, such as stroke, infection or forgetting how to swallow and choking.
