From cystic fibrosis to sickle cell disease, Down syndrome, and Klinefelter syndrome, these are some examples of genetic illnesses you should be aware of. You should also know that breast cancer, arthritis, and diabetes are common genetic disorders, too.
Although some of these are rare genetic diseases, you should still familiarize yourself with them, as it can help you make more informed decisions about your health and well-being (and your kids, if you have any or plan to have some). Per Virginia Tech, one in ten Americans has a rare disease.
Other chronic diseases where genes play a role, such as breast cancer, arthritis, and diabetes, are also multifactorial, with some of their risk factors being modifiable. By modifying these risks, you can minimize your likelihood of developing them.
What Are Genetic Illnesses?
When someone has a genetic illness, it means they have a condition that resulted from a change or mutation in their genes.
Genes are components of a person's DNA (deoxyribonucleic acid) inherited from parents. They contain inheritance patterns and instructions on how individuals, as living organisms, should develop, survive, and reproduce.
What Are the 4 Types of Genetic Conditions?
One of the four primary types or classifications of genetic illnesses is a single-gene disorder. It results from a mutation of a single gene.
Chromosomal disorders are another type. They affect the chromosomes, either as an alteration in their number or structure.
There are also polygenic disorders. They're a result of multiple genes interacting, with environmental factors also playing a role.
Multifactorial disorders are the fourth type of genetic illnesses. Multiple genes, environmental factors, personal choices, and lifestyle habits play a role in their development.
What Genetic Illnesses Should You Be Aware Of?
Ideally, you'd want to be aware of any illness you have a genetic predisposition for, as this can help you be more proactive in looking after your health and well-being. A helpful strategy in this case is to use the best DNA test kit to know disease risks.
Genetic testing options can give you valuable insights into the following seven diseases (and others) and help guide your health-related decisions.
1. Cystic Fibrosis
Cystic fibrosis is a type of single-gene genetic disorder. It affects the gene known as "cystic fibrosis transmembrane conductance regulator" (CFTR).
According to the National Heart, Lung, and Blood Institute (NHLBI), over 2,000 different CFTR mutations can lead to cystic fibrosis. Common genetic disorder symptoms associated with this illness include:
- Delayed puberty
- Fertility problems, particularly in males
- Fever and night sweats
- Severe stomach pain, constipation, and chronic diarrhea
- Lung and sinus infections
- Muscle and joint pain
Some people with cystic fibrosis experience few to no symptoms, but others do, and in some cases, may even develop life-threatening complications.
2. Sickle Cell Disease
Also known as sickle cell anemia, sickle cell disease is a single-gene disorder that affects the gene called "hemoglobin beta" (HBB). The term "sickle" comes from how this genetic illness distorts the red blood cells into a crescent (or sickle) shape.
Anemia, or low red blood cell count, is one of the most characteristic features of this disease. Repeated infections and periods of pain are also common symptoms.
3. Down Syndrome
Down syndrome is a type of chromosomal disorder. People who have this genetic illness have an extra copy of chromosome 21. As a result, they have 47 chromosomes in total instead of just 46.
The extra chromosome in people with Down syndrome causes distinct physical characteristics and mild to severe developmental delays.
4. Klinefelter Syndrome
Like Down syndrome, Klinefelter syndrome is also a chromosomal genetic illness. It affects males, and those who have it have an extra X chromosome (XXY).
Common symptoms associated with this disease include:
- Small testes
- Reduced facial and body hair
- Delayed puberty
- Tall stature
- Gynecomastia (development of breasts)
- Low testosterone levels
Men with Klinefelter syndrome also have a higher risk for breast cancer compared to those without it, according to MedlinePlus.
5. Breast Cancer
Breast cancer can be a genetic disease if it involves a mutation of the BRCA1, BRCA2, or PALB2 genes. Parents can pass these genetic changes down to their children.
Breast cancer is far more common in women, but men can still develop it. The U.S. CDC says that one in every 100 cases of breast cancer is in men.
6. Arthritis
Arthritis is a condition that causes the joints to become inflamed and damaged. It's a multifactorial disease that can result from a combination of inheritance patterns and predispositions, environmental factors, and lifestyle choices.
Rheumatoid arthritis (RA) and osteoarthritis (OA) are two examples of arthritis that carry a genetic predisposition.
7. Diabetes
Diabetes is a chronic disease that impairs the body's ability to use glucose (sugar) for energy. It takes several forms, including type 1 (T1D) and type 2 (T2D). Both T1D and T2D have a hereditary component, meaning if one or both of your parents have either, you're at risk of developing it, too.
Frequently Asked Questions
Which Diseases Are 100% Genetic?
Diseases that are 100% genetic include single-gene disorders, as these disorders result from a mutation of a single gene. Chromosomal disorders are also 100% genetic.
What Are the Benefits of Genetic Testing?
One of the primary benefits of genetic testing is to help you detect your potential for or predisposition to genetic illnesses. Early detection and awareness allow you to take preventive measures that can help lower your risks of them developing or worsening.
Take cancer, for instance. When people know that they have BRCA gene mutations, they can be more proactive and get more frequent cancer screenings. Undergoing these checks can then help them detect breast or ovarian cancer early, enabling early treatment.
Does Predisposition Guarantee You'll Develop a Genetic Illness?
No. Even if you have a genetic predisposition, it doesn't automatically mean you'll surely develop the illness. Predisposition only indicates a higher likelihood.
Always remember that many genetic illnesses, such as arthritis and diabetes, are multifactorial, and healthy lifestyle habits can mitigate your risk of developing them.
Detect Genetic Illnesses Early With Testing
Whether it's cystic fibrosis, sickle cell disease, breast cancer, or diabetes, these are all forms of genetic illnesses you should be aware of. Consider getting tested for them, too, even more so if you have close family members who have or have had them.
Find more informative health and wellness guides like this by browsing the rest of our website.
This article was prepared by an independent contributor and helps us continue to deliver quality news and information.
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