A Brief Guide to Inherited Diseases and What You Can Do About Them
An inherited disease, also known as a genetic disorder or a hereditary disease, is a condition caused by an abnormality or mutation in a person’s DNA. These conditions pass down from one generation to the next through genes. Mutations in a single gene (known as a monogenic disorder) or by a combination of genetic and environmental factors (known as a complex disorder) may cause inherited diseases. Some inherited diseases are more common in certain ethnic groups, while others affect people of all races and ethnicities.
Common Examples of Inherited Diseases
Cystic fibrosis:
It is a disease affecting the respiratory, digestive, and reproductive systems. Scientists say changes in the CFTR gene cause this disease.
Huntington’s disease:
It is a progressive neurological disorder that causes uncontrolled movements, cognitive decline, and psychiatric symptoms. Mutations in the HTT gene cause this disease.
Hemophilia:
According to the CDC, haemophilia is a bleeding disorder that prevents blood from clotting properly. Mutations in the genes producing blood clotting factors cause this disease.
Sickle cell anaemia:
This is a blood disorder that causes abnormal haemoglobin molecules to form, which can cause red blood cells to become misshapen and break down. According to scientists, HBB gene mutations cause this disease.
Muscular dystrophy:
It is a group of diseases causing progressive muscle weakness and degeneration. Mutations in various genes involved in muscle function cause this disease.
Tay-Sachs disease:
It is a rare and fatal neurological disorder affecting young children. Mutations in the HEXA gene cause the disease.
Down syndrome:
It is a chromosomal disorder affecting cognitive ability, physical growth, and facial features. The presence of an extra copy of chromosome 21 causes this disease. Click here to know more.
What to Do If Your Family Has a History of Inherited Diseases
Know your family history:
Gather as much information as possible about your family’s health history. Talk to your parents, grandparents, aunts, uncles, and cousins about any medical conditions they have had, and note any patterns you observe.
Consult a healthcare provider:
Discuss your family history with your healthcare provider. He can help you understand your risk for inherited diseases and recommend appropriate screening and testing options.
Practice healthy lifestyle habits:
You can help reduce your risk of developing many inherited diseases by adopting healthy lifestyle habits. It includes eating a balanced diet, exercising regularly, maintaining a healthy weight, avoiding tobacco and excessive alcohol, and managing stress.
Consider genetic testing:
Genetic testing can provide information about your risk of developing certain inherited diseases. Your healthcare provider can help you understand the benefits and limitations of genetic testing and recommend appropriate testing options.
Seek support:
Coping with a family history of inherited diseases can be challenging. Seek support from family members, friends, or a support group to help you manage your emotions and cope with any concerns or anxiety.
Conclusion
Many inherited diseases are rare, but some, like cystic fibrosis, are more common. While there is no cure at the moment for inherited diseases, you can manage many of them through medication, lifestyle changes, and other treatments. Genetic counselling can help people understand their risk of inheriting a genetic disorder and make informed decisions about having children.
