By Dr K Ravi Kiran
Consultant General Physician
Published on 11/07/2022
What are Genetic Disorders?
A genetic disorder occurs when the genes are affected by a mutation (also known as a pathogenic variant) or there is not enough genetic material. Genes are made of DNA (deoxyribonucleic acid), which contains instructions for cells to function properly.
Inheriting a gene mutation from one or both parents is possible, as you receive half of your genes from each biological parent. Genes can change due to problems with DNA (mutations). This increases your risk of developing genetic disorders. In some cases, symptoms develop at birth, while in others they develop later in life.
Genetic disorders can be:
- Chromosomal: In this case, it has an effect on parts of the cell that house genes and DNA (chromosomes). People with these disorders lack or have duplicated chromosomal material.
- Complex (multifactorial): These diseases are caused by a combination of gene mutations and other causes. Chemical exposure, nutrition, some medications, and tobacco or alcohol usage are among them.
- Single-gene (monogenic): This group of diseases is caused by a single gene mutation.
What are common genetic disorders?
There are many types of genetic disorders such as:
- Klinefelter syndrome
- Down’s syndrome (Trisomy 21)
- FragileX syndrome
- Turner syndrome
- Triple-X syndrome
- Trisomy 13
- Trisomy 18
- Late-onset Alzeimer’s disease
- Isolated congenital heart defects
- Coronary artery disease
- Migraine headache
- Spina bifida
- Cystic fibrosis
- Duchenne muscular dystrophy
- Hemochromatosis (iron overload)
- Familial hypercholesterolemia
- Sickle cell disease
- Tay-Sachs disease
- Neurofibromatosis type 1 (NF1)a
Let's find out what causes genetic disorders!
Knowing more about genes and DNA might help you understand the causes of genetic disorders. Most of the DNA in the genes instructs the body to make proteins. Activating these proteins initiates complex cell interactions, which are beneficial to our overall health.
A mutation affects the instructions that the genes provide to make proteins. There could be missing proteins, or the ones you have may not work properly. Environmental factors (also known as mutagens) can also cause a genetic mutation. These include:
- Chemical exposure
- Radiation exposure
- UV exposure from the sun
What is the treatment for genetic disorders like?
Most genetic disorders are incurable. Some diseases are handled by treatments that can slow the growth of the condition or minimise its impact on people’s lives. The type of treatment that is appropriate for you is determined by the nature and severity of the disease.
You may need:
- Medications to manage symptoms or to slow abnormal cell growth
- Dietary supplements or nutrition counselling
- Physical or speech therapy to improve your abilities
- Blood transfusion to restore healthy blood cell levels
- Surgery to treat complications or repair abnormal structures
- Specialised treatments, such as radiation therapy for cancer
- Organ transplant, a procedure that replaces a non functioning organ with one from a healthy donor
How can I prevent a genetic disorder?
There is usually little you can do to prevent a genetic disorder. However, genetic counselling and testing might help you understand more about the risks involved. It can also inform you whether your children are at risk of inheriting certain diseases.
Genetic disorders develop when a mutation affects the genes or chromosomes. Some disorders generate symptoms at birth, while others develop over time. Genetic testing can provide information about the chances of developing a genetic disorder. If you or a loved one have the symptoms of a genetic condition, it is important to seek treatment from an expert specialist