Genetic Disorders

First, we need to know about the genes before discussing the genetic disorders. So, the genes are the unit of heredity. It contains genetic information in the DNA. It helps us carry out life processes by translating them into useful protein. Thus, Genetic disorders occur due to abnormalities in the genes of any organism. It happens due to the mutation of genes. The mutation changes instructions to formulate the protein. Therefore, protein does not work properly, and the organisms are affected by genetic disorders. Moreover, some genetic disorders are found from birth. Here, we discuss all common genetic disorders, their types, and genetic disorders in children. 

Types Of Genetic Disorder

There are many types of genetic disorders. The most common genetic disorders are mendelian disorders and chromosomal disorders. Let’s know about them.  

1. Mendelian disorders

We found mendelian disorders when mutation affects genes. We can detect it by pedigree analysis. 

Some major Mendelian disorders are:-

• Cystic fibrosis (autosomal recessive),

• Albinism (autosomal recessive),

• Sickle cell anaemia (autosomal recessive)

• Haemophilia (sex-linked recessive). 

2. Chromosomal disorders

We found chromosomal disorders when an alteration in the number or structure of the chromosomes. Also, sometimes the whole set of chromosomes is lost or gained. These disorders can affect many chromosomes. 

• Some chromosomal disorders are:-

• Down syndrome. 

• Klinefelter syndrome.

• Triple-X syndrome.

• Turner syndrome.

• Trisomy 13

• Trisomy 18.

3. Multifactorial disorders

We found multifactorial disorders when mutations in the non-nuclear mitochondrial DNA. It can be inherited from mother to child. 

Some disorders are:-

• Leber’s Hereditary Optic Atrophy 

• Mitochondrial encephalopathy

• Myoclonic epilepsy 

• Autism spectrum disorder

4. Monogenic disorders

• Deafness that’s present at birth 

• Familial hypercholesterolemia, 

• Duchenne muscular dystrophy

• Hemochromatosis 

• Sickle cell disease.

• Neurofibromatosis type 

Causes Of Genetic Disorders

We need to know about the work of genes and DNA before understanding genetic disorders. So, the DNA of our genes instructs our body to prepare protein. This protein began complex cell interaction. And it will help us to stay healthy. Besides, when mutation affects the genes, it changes protein-making instructions. So, there will be a protein loss, or it won’t work properly. Sometimes environmental factors can be responsible for genetic mutation, such as smoking, Chemical exposure, Radiation exposure, and UV exposure from the sun. 

Symptoms Of Genetic Disorders 

There are some symptoms to know about common genetic disorders. But the symptoms change with different disorders and affected organs. 

• We can observe breathing problems and Behavioural changes or disturbances. 

• The brain can not process information properly. We call it Cognitive deficits. 

• Development issues, here, the person faces challenges with social skills. 

• A digestive problem in a person. They are unable to process nutrients. 

• Muscle stiffness, weakness, and movement disorders. 

• Poor growth, vision, and hearing loss. 

How can we identify Genetic Disorders? 

If you have genetic disorders in your family, the child can inherit them. So, it would be best if you considered genetic counselling. It will help you know the conditions responsible for gene mutations through the lab tests. If you have a genetic mutation, it doesn’t always mean you will end up with this. You can consult a genetic counsellor. They will explain the risk of your disease, and you can protect your health. 

So, if you have a family history of genetic disorders, you can take some steps to start a family. 

• Carrier testing:- This is a blood test that helps you to know whether parents carry a mutation linked to genetic disorders or not. 

• Prenatal diagnostic testing:- This test will help you to know whether your unborn child has the risk of genetic disorders or not. This test uses fluid samples from the womb. 

• Prenatal screening:- This test is used in pregnant women. It says unborn children could have a common chromosome condition.

• Newborn screening:- This test uses a sample of newborn blood. It detects genetic disorders early in life. It will help children to receive timely care. And cure genetic disorders in children. 

Treatment of Genetic disorders

Mainly genetic disorders have no treatment. But some treatments can slow the progress or impact of the disease. Thus, it would be best if you did these:- 

• Chemotherapy to slow the mutated cell growth.

• Take supplements to get nutrients in your body.

• Surgery to improve abnormal structure. 

• Blood transfusion to restore healthy blood cells. 

• Physical or speech therapy. 

• Radiation therapy for cancer patients. 

• Organ transplant helps to replace non-functional organs with healthy ones. 

Conclusion

From the above discussion, we know all about genetic disorders. It happens due to the mutation of genes. The most common genetic disorders are Mendelian disorders and Chromosomal disorders. Sometimes it is caused due to smoking, Chemical exposure, Radiation exposure, and UV exposure from the sun. Moreover, most genetic disorders have no treatment. But we can suppress the impact of diseases through prevention, physical exercise, and chemotherapy. Moreover, if you want to prevent genetic disorders in children, you need to take some tests, such as parents screening, newborn screening, and prenatal diagnostic testing. It will help you to live a healthy life with your family.