Understanding Hereditary Diseases: What Can You Inherit from Your Family?

Hereditary diseases occur when a gene mutation is passed from a parent to their offspring. Not all genetic disorders are due to inheritance; some can be caused by environmental factors such as chemical exposure. There are many types of hereditary diseases, including multi-factorial and chromosomal disorders. Read this guide to learn more about hereditary diseases, their causes, symptoms and diagnosis.

What is a Hereditary Disease?

A genetic disease or disorder occurs when a specific gene alteration exists. These changes in gene proteins and chromosomes determine the risk of a disease. When these genetic diseases are passed on to the offspring, they are considered hereditary. An offspring inherits genetic material from both parents, making it possible to receive a genetic disorder from either one.

What is the Difference between Hereditary and Genetic Disease?

All hereditary diseases are genetic, but not all genetic diseases are hereditary. The differences between hereditary and genetic diseases are:

• Genetic diseases: Occur due to alterations in a person’s DNA. These may be passed to offspring and cause a hereditary disorder.
• Hereditary diseases: Occur due to gene mutations passed to the offspring. This happens because the alterations are present in the germline or reproductive cells of parents.

What are the Types of Hereditary Disorders?

It is essential to know the types of hereditary diseases and their effect on the body. They are as follows:

• Chromosomal: These arise due to structural changes in the chromosomes. A person can have either a missing, extra, or rearranged chromosome material. These can lead to conditions like Down syndrome or Turner syndrome.
• Complex: These result from genetic and environmental factors like exposure to toxins or poor diet. These can lead to heart diseases, type 2 diabetes, or cancers.
• Single gene: These are caused by a mutation in a single gene, primarily due to gene dominance. Common genetic diseases of this type are cystic fibrosis, sickle cell anaemia, and Huntington’s disease.

What are Some Common Genetic Diseases?

Some of the common genetic diseases include:

• Cystic Fibrosis: It directly affects the lungs, digestive system, and other organs and causes breathing issues. The disease causes a buildup of thick mucus inside the organs, which blocks and damages them.
• Sickle Cell Disease: It blocks blood flow due to a shape change in red blood cells. It can cause severe pain, fatigue, and lead to delayed growth in children.
• Down Syndrome: It occurs due to the development of an extra copy of chromosome 21. This causes learning difficulties, distinct facial features, and slow growth.
• Huntington’s Disease: It’s an inherited brain disorder that starts in adulthood, causing loss of thinking ability and difficulty in movement.
• Diabetes: It leads to improper production and use of insulin in the body. It causes blood sugar spikes, leading to faintness and unintended weight loss.

What are the Causes and Symptoms of Hereditary Diseases?

There are several environmental as well as hereditary factors that cause hereditary diseases, such as:

• Gene mutation: A change in the protein-making capacity of a gene. These can be inherited from parents and can cause genetic diseases.
• Environmental toxins: These can affect genetic sequencing and lead to hereditary diseases.
• Radiation exposure
• Tobacco usage
• UV exposure from the sun

The symptoms of a genetic disease vary according to the type, severity, and organs affected. Typical symptoms will include:

• Shift in behavioural patterns
• Digestion issues, such as swallowing difficulty
• Poor body growth
• Breathing problems
• Vision or hearing loss
• Movement disorders due to weakness

How to Diagnose a Hereditary Disease?

There is a list of tests to identify hereditary diseases. Some of them are:

• Carrier Testing: This blood test identifies the presence of a gene mutation. It is considered essential for everyone considering pregnancy to protect the offspring.
• Prenatal Screening: This blood test involves a blood sample from the pregnant mother. It is to test for any abnormalities in the foetus’s chromosomes.
• Newborn Screening: This test takes a sample of the baby’s blood to detect genetic diseases. It can help in early detection and ensure timely intervention.

Hereditary disease occurs when a gene mutation is inherited from a parent. Some diseases may cause symptoms at birth, while others take time to develop. Genetic testing can help identify the risk of such genetic diseases, allowing individuals to seek timely medical assistance. If one experiences any of the symptoms mentioned above, they should consult a doctor and schedule a genetic test with Dr. Lal PathLabs. Download the Dr Lal PathLabs app today for easy test bookings.

FAQs

• • How do genetic disorders affect children?
    Genetic disorders in children are hereditary and affect growth, body development and overall functions.

• What are 5 genetic diseases?
  There are many genetic diseases, but the five most common are Cystic Fibrosis, Sickle Cell Anaemia, Down Syndrome, Huntington’s disease, and Diabetes.