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9 Common Genetic Disorders

You might have come across many people who say that they have certain genetic health conditions or disorders. And you know what it means, the health conditions which have been passed down by parents and their generation. In this article, you will come to know the most common genetic disorders.

A genetic disorder is caused by abnormalities in an individual's genetic material such as the DNA or genome. Surprisingly, there are actually four different types of genetic disorders - a single gene is mutated; multiple genes are mutated; the maternal genetic material in mitochondria is mutated; chromosomal changes or the entire areas of the chromosome can be missing or misplaced.

A genetic disease is a terrible thing because the individual can't avoid it or sometimes it may even be possible to avoid it. Single gene genetic inheritance also called monogenetic inheritance includes disorders like sickle cell anaemia, cystic fibrosis, marfan syndrome, and hemochromatosis.

Multiple genes mutated are the ones which include heart disease, high blood pressure, arthritis, diabetes, cancer, obesity and so on.

So, let's have a look at the most common genetic disorders.

1. Heart Disease

A healthy lifestyle habit is linked to a lower risk of heart disease, which is the leading cause of death in women, according to the Centers for Disease Control. To prevent heart disease risk, no smoking, maintaining a healthy BMI, exercising regularly and eating a diet low in red meat and saturated fat are some of the factors. People with a genetic risk of heart disease are mostly linked to family history, says a cardiologist at Drake University. So, if you have a family history of stroke, you are also most likely to have one.

2. Colon Polyps

If someone in your family has adenomatous polyps, then you are at a risk of colorectal cancer. Such polyps develop in the colon during your teenage years, but become malignant as you get closer to 40. According to the American Cancer Society, one in five people who get the disease is related to someone who's had it. Often, people start getting screened for colorectal cancer at age 50. But, if you have a family history of colon polyps, you might get it earlier.

3. Coeliac Disease

The rise of gluten-free products has surged over the past decade, the world has become more aware about coeliac disease. Coeliac disease is an immune reaction to eating gluten, a protein found in wheat, barley and rye. It can lead to symptoms like diarrhoea, abdominal pain, bloating and weight loss. People with a first degree relative with coeliac disease have a 1 in 10 risk of getting this themselves, since there are genes associated with this disease.

4. High Cholesterol

According to the FH Foundation, people with the genetic disorder called familial hypercholesterolemia (FH) have dangerously high level of bad (LDL) cholesterol from birth. They are also 20 times more at a risk for early heart disease, which includes heart attack and stroke. It is a very common genetic condition in India, adding to about 10 million cases per year. Genetic testing combined with a simple blood cholesterol test can lead to diagnosis and treatment.

5. Depression

Scientists believe that as many as 40 percent of those with depression is linked to the genes. Environmental and other factors such as changes in hormone levels, certain medical conditions, and stress make up the other 60 percent. Research has also shown that people with parents or siblings who have depression are up to three times more likely to have this condition.

6. Thalassemia

Thalassemia is a group of inherited blood disorders where haemoglobin, the oxygen-carrying molecule, is not properly synthesized by the red blood cells. Beta-thalassemia is the most common, and alpha-thalassemia is not so common. This results in anaemia, which include symptoms like fatigue, an enlarged spleen, easily broken bones, shortness of breath or bone pain. People suffering with Thalassemia may also have a poor appetite, darkened urine and jaundice.

7. Cystic Fibrosis

This disease is one of the most widespread inherited genetic disorders. Cystic fibrosis occurs only when both parents are carriers, which gives their children a one in four percent chance of contracting the disease. This health condition results when there is a lack of a certain protein and the balance of chloride in the body isn't restricted. The symptoms include difficulty in breathing, lung infections, digestive and reproductive issues.

8. Fragile X

This disorder is a group of genetic conditions that affect families differently. The fragile X syndrome causes inherited mental disabilities and affects those with high testosterone and primary ovarian insufficiency. Fragile X syndrome causes a range of developmental problems, including cognitive impairment and learning disabilities.

9. Neurofibromatosis

This is a nervous system disorder, which causes tumours to form in the brain, spinal cord and nerves. Though this disorder is rare in India, it has been reported fewer than 1 million cases per year. About one-half of neurofibromatosis cases are inherited genetically and the other half results from spontaneous genetic mutation.

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Read more about: genetic genes health
Story first published: Thursday, April 19, 2018, 12:48 [IST]