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Navigating the Complexities of Hereditary Diseases

Dr.Ayushi Bansal 250 Views
Updated: 24 Apr 2024
Published: 24 Apr 2024

Introduction

Hereditary diseases are defined as genetic disorders passed from one generation to the other or from parents to their offspring. Hereditary disorder or genetic disorder is generally caused by changes in genes and chromosomes or abnormality in DNA. Living with hereditary disease causes a lot of stress and tension not only to the person who suffers but also to the entire family. There are plenty of hereditary diseases that cause mental and physical stress. Parents and caregivers must know and understand the disorder and provide good care for the patient.

How Are Hereditary Diseases Inherited?

There are various ways through which genetic disorder is inherited: 

  • Autosomal Dominant: In autosomal dominant, the copy of the altered gene is passed onto the offspring from either one of the parents. Sometimes the affected person passes onto the altered genes and in some cases, the formation of new variants occurs in the gene without transferring the altered gene from the parent.
  • Autosomal Recessive: It is somewhat similar to autosomal dominant but the only difference is that in autosomal recessive the copy of altered genes is passed onto the offspring from both the parents and it is not seen in every generation.
  • X-Linked: In X-Linked, the altered gene is present in the X chromosome and affects males more severely than females.
  • Mitochondrial Inheritance: Mitochondria have a small amount of DNA present in them. Mitochondrial inheritance can only be passed from mothers to their children and not from fathers to their children, but it affects both males and females.

Different Types of Hereditary Diseases

Many hereditary diseases affect the mental and physical health of a person. Let's discuss a few:

  • Angelman Syndrome: This genetic disorder affects the mental health of a person. The person with this genetic disorder cannot concentrate properly and laughs and speaks unnecessarily. Sometimes the person also needs support while walking and sitting. The patient is restless most of the time and takes less sleep than any other person. This disease cannot be cured but people take therapies to improve the condition. 
  • Albinism: Melanin is a pigment present in our skin that provides pigmentation to our body and hair but people with a genetic disorder named Albinism have little or no melanin pigment in their body. Some people with this genetic disorder have white hair, pink-white skin tone, and hazel or grey eye colour with weak eyesight. It doesn't affect the mental health of a person.
  • Down Syndrome:  People with the genetic disorder - Down Syndrome have an extra chromosome in their cells. People with Down Syndrome can have problems with their eyesight, hearing, heart defects, and many other problems. People with Down Syndrome can vary in appearance as well. 
  • Cystic Fibrosis: People with Cystic Fibrosis can suffer from lung problems as well as problems with the digestive system. It can cause problems with digestion and lead to poor growth. To cure this, you can do physiotherapy regularly and take antibiotics for lung infection.
  • Haemophilia: In this genetic disorder the blood doesn't clot properly which makes it difficult to control bleeding.  Some people are mildly affected by this disorder while others are severely affected. 

Apart from above mentioned hereditary diseases, many more diseases are genetically transferred from parents to their offspring.

Treatments for Hereditary Diseases

Many hereditary disorders can be cured easily with medications. On the other hand, there are hereditary disorders that cannot be cured but you can opt for therapies and an improved lifestyle that can alter the condition of the patient. 

  • Gene Therapy: This therapy is very effective in altering the genetic material from the cells. This has shown positive results in curing certain diseases. 
  • Enzyme Replacement Therapy: For genetic disorders in which there is enzyme deficiency then Enzyme Replacement Therapy is very effective and improves the quality of life. 
  • Medication: Some genetic disorders Type 1 Diabetes can be cured with the help of regular medication. 
  • Surgery: In genetic disorders related to heart and skeletal diseases, surgeries are necessary to cure the condition.  
  • Dietary Management and Improved Lifestyle: To improve some genetic disorders or to cure them, you can take a diet that can help to cure the condition and follow a good lifestyle.

Conclusion

Hereditary diseases or genetic disorders are transferred from one generation to another and there are certain complexities that a person and the family suffer from.

FAQs (Frequently Asked Questions)

  1. How can we support someone with a hereditary disease?

    Answer:- You can help someone with hereditary disease by treating them equally like others and you can also make more people aware of these conditions and ask them to help those in need.

  2. Is it compulsory that genetic disorder is passed on to every generation?

    Answer:- No, not every generation needs to suffer from genetic disorders as sometimes the mutation gene is not effective in one generation and can pass on to the next.

  3. Are all genetic diseases present from birth?

    Answer:- No, it's not necessary as sometimes some conditions show their symptoms after a certain age.

  4. Can all genetic disorders be cured?

    Answer:- No, many genetic disorders can be cured but, in some disorders, the quality of the condition can be improved but it cannot be cured.

  5. Does a genetic disorder affect the mental health of a person?

    Answer:- Yes, some genetic disorders affect the mental health of a person and sometimes he/she can have anxiety and behavioural changes.

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