Common Genetic Disorders

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A genetic disorder is a disease that is written into the DNA code found in each one of an individual’s cells. Genetic disorders are passed down to the individual from his or her parents. Some genetic disorders must be inherited from both parents, while others are dominant traits that need only be passed down from one parent to affect the child. There are thousands of different genetic disorders, though some are more commonly familiar than others. These are some of the most common genetic disorders.

Sickle Cell Anemia

Sickle cell anemia is a genetic disorder that causes blood cells to change shape, becoming sickle-like instead of smooth and round, because the hemoglobin molecule is defective. When they are misshapen like this, they cannot move through small blood vessels, so sickle cell anemia deprives organs and tissues of blood. Blood cells also die much faster than they can be replaced, leaving the body chronically short of red blood cells. Millions of people worldwide are affected by this disorder. In the United States, one in every 72,000 people has sickle cell anemia. It is particularly prevalent among African Americans, one in twelve of whom carries the sickle cell gene. Bone marrow transplant is the only cure, but vaccines, antibiotics, folic acid supplements, and painkillers are used to manage the disorder.

Thalassaemia

Thalassaemia is another hemoglobin-related genetic disorder in which the genes responsible for the production of hemoglobin are missing or defective. There are two different types of thalassaemia, alpha and beta thalassaemia, depending on which of the chromosomes involved in hemoglobin production carries the disorder. Together, the two thalassaemias are the most common single-gene disorders in the world, and are particularly common in areas with a strong history of malaria. Diagnosis can be made by the end of the first trimester of pregnancy, and early treatment has proven very effective for improving the quality of life for those with this genetic disorder.

Familial Hypercholesterolemia

Familial hypercholesterolemia, or FH, is a common genetic disorder affecting about one in every 500 people. It is estimated that only 10% of those with the disorder have been diagnosed, despite the fact that it can lead to early heart disease and even death. This disorder prevents the body from properly handling the LDL, or bad cholesterol, in the bloodstream, causing it to build up over time. FH is typically managed using lifestyle changes and a variety of cholesterol-lowering therapies.  In extreme cases, FH is managed with apheresis, a process that involves removing the blood from the body in order to filter out the LDL that is not being removed.

The FH Foundation is the only organization in the United States exclusively dedicated to Familial Hypercholesterolemia. We are committed to raising awareness, increasing the rate of early diagnosis and encouraging proactive treatment of FH. If you need more information about genetic disorders, or want to get involved, contact us today to find out more about what we do.

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