You’ve likely heard people mention that they have inherited certain health conditions from their family. These are known as genetic disorders—conditions passed down from parents through DNA. In this article, we’ll explore some of the most common genetic disorders.
What Are Genetic Disorders?
Genetic disorders are caused by changes or abnormalities in a person’s DNA or genome. These can occur in four main ways:
- A mutation in a single gene.
- Mutations in multiple genes.
- Mutations in mitochondrial DNA (inherited from the mother).
- Chromosomal abnormalities—missing or misplaced sections of chromosomes.
Some genetic conditions are unavoidable, while others might be preventable with early detection. Monogenic disorders (from a single gene mutation) include conditions like sickle cell anemia, cystic fibrosis, Marfan syndrome, and hemochromatosis. Multifactorial disorders, involving multiple genes, include heart disease, high blood pressure, arthritis, diabetes, cancer, and obesity.
# Heart Disease
Heart disease is a leading cause of death, particularly among women. According to the CDC, lifestyle factors such as avoiding smoking, maintaining a healthy BMI, regular exercise, and limiting red meat and saturated fats can reduce risk. However, a strong genetic link exists—if heart disease runs in your family, you may also be at risk.
# Colon Polyps
A family history of adenomatous polyps increases your chances of developing colorectal cancer. These polyps often begin in the teen years and can become cancerous by age 40. The American Cancer Society reports that one in five people with this cancer has a family connection. Early screening is advised if there's a family history.
# Coeliac Disease
This autoimmune condition is triggered by gluten (found in wheat, rye, and barley). Symptoms include bloating, abdominal pain, diarrhea, and weight loss. If a first-degree relative has coeliac disease, your risk rises to 1 in 10, due to shared genetic markers.
# High Cholesterol
Familial hypercholesterolemia (FH) causes extremely high levels of LDL (bad) cholesterol from birth, increasing the risk of early heart attacks and strokes. Around 10 million people in India have this condition. It can be detected with a blood test and genetic screening.
Genetics play a role in nearly 40% of depression cases. The rest is influenced by hormonal changes, medical conditions, and life stress. If a close family member has depression, your risk is up to three times higher.
# Thalassemia
An inherited blood disorder, thalassemia disrupts hemoglobin production, leading to anemia. Beta-thalassemia is more common than alpha-thalassemia. Symptoms include fatigue, enlarged spleen, brittle bones, shortness of breath, dark urine, and jaundice.
# Cystic Fibrosis
A common inherited disorder, cystic fibrosis occurs when both parents carry the faulty gene, giving their child a 25% chance of inheriting it. It affects breathing and digestion due to thick mucus buildup caused by chloride imbalance in the body.
# Fragile X Syndrome
This group of genetic conditions affects mental and developmental abilities. It may result in cognitive impairments, learning disabilities, and, in some cases, reproductive issues like ovarian insufficiency.
# Neurofibromatosis
A rare genetic disorder that causes tumors to develop on nerves in the brain, spine, and body. Roughly half of cases are inherited, while the rest stem from spontaneous mutations. Fewer than 1 million cases are reported in India each year.
