CALL US NOW 75000 75111

Navigating the Complexities of Hereditary Diseases

Dr.Ayushi Bansal 174 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.

Most viewed

A Path to Parenthood: Exploring the Diversity of Assisted Te...

By: Dr. Samiksha Ahlawat 21 Dec 2023

Things Your Blood Types Say About Your Health

By: Dr Rishika Agarwal 19 Dec 2017

Vitamin D Deficiency – A Modern Day Epidemic

By: Pathkind Team 05 Mar 2018

Navigating Pregnancy Comfort: A Comprehensive Guide to Manag...

By: Dr Rishika Agarwal 09 Feb 2024

3 Simple Ways to Detox at Home Naturally

By: Pathkind Team 28 Apr 2023

When and Why You Should Go for the Lipid-Profile Test?

By: Pathkind Team 02 Jan 2020

Breast Implants Facts: No One Will Ever Tell You

By: Dr Rishika Agarwal 27 Jan 2023

Preparing Your Family for Cold and Flu Season: Prevention is...

By: Pathkind Team 02 Feb 2021

Hashimoto's Thyroiditis Disorder: An Autoimmune Disease Affe...

By: Dr Rishika Agarwal 19 Dec 2023

सीबीसी टेस्ट क्या है औ...

By: Dr Rishika Agarwal 06 Mar 2024

Omicron Variant - How to Deal with the New Scare?

By: Dr. Rahul Verma 09 Dec 2021

All you need to know about Dengue fever is here!

By: Pathkind Team 02 Nov 2021

एसजीपीटी टेस्ट क्यों क...

By: Dr Rishika Agarwal 26 Feb 2024

The Winter Skin Rescue: How to Beat Dead Skin and White Rash...

By: Dr Rishika Agarwal 15 Jan 2024

The Surprising Connection Between Gut Health and Dandruff

By: Dr. Pankaj Mandale 18 Mar 2024

Related Blog

Hereditary Diseases: What and When to Get Tested

| 25 Apr 2021

5 Important Diagnostic Tests for Women Above 30

Pathkind Team | 01 Dec 2020

Hormonal Imbalance: Symptoms, Treatment, Tests, and Causes

| 24 Feb 2020

How to reduce the risk of getting sick?

| 05 Feb 2020

Important Tests That Our Parents Should Take

| 28 Aug 2019

Best Foods To Improve Digestion

| 18 Aug 2019

The Role of Vitamin D & Calcium in Bones

Pathkind Team | 22 Mar 2019

Book Preventive Health Check-Up Packages

| 28 Mar 2019

Get a call back from our Health Advisor

Related Test

Component : CBC, ESR, PS, BSF, HbA1c, Total Cholesterol, Triglycerides, LDL Calculated, HDL, VLDL, CHOL/HDL Ratio, LDL/HDL Ratio, Apolipoprotein A1, Apolipoprotein B, Lipoprotein (A), HsCRP, Bilirubin Total, Direct & Indirect, SGOT, SGPT, AST/ALT Ratio, ALP, Total Protein, Albumin, Globulin, A/G Ratio, BUN, Creatinine, BUN/Creatinine Ratio, Calcium, Sodium, Potassium, Chloride, Uric Acid, Iron, UIBC, TIBC, % Saturation, Vit D, Vit B12, T3, T4, TSH, IgE Total, Urine R/M

Include : parameters

Specimen : 2ML WB EDTA, 2 SST Tube , 2 ML Fasting Flouride Plasma, Spot Urine

Report Delivery :

6000

Component : CBC, BSF/BSR, HbA1c, Lipid Profile, Kidney Function Test (Urea, BUN, Creatinine, BUN/Creatinine Ratio, Uric Acid), Liver Function Test (Bilirubin Total, Direct & Indirect, SGOT, SGPT, AST/ALT Ratio, ALP, Total Protein, Albumin, Globulin, A/G Ratio), TSH, Urine R/M) GGT, Calcium, Phosphorus, Electrolytes (Na/K/Cl), T3, T4, Vitamin D 25 - Hydroxy, CRP, GGT

Include : parameters

Specimen : 2ML WB EDTA, 2 SST Tube , 2 ML Fasting/Random Flouride Plasma, Spot Urine

Report Delivery :

8525
2249

Component : CBC, ESR, BSF, HbA1c, Total Cholesterol, Triglycerides, LDL Direct, HDL, VLDL, CHOL/HDL Ratio, LDL/HDL Ratio, BUN, Creatinine, BUN/Creatinine Ratio, Sodium, Potassium, Chloride, Iron, UIBC, TIBC, % Saturation, Uric Acid, Calcium, Phosphorus, Bilirubin Total, Direct & Indirect, SGOT, SGPT, ALP, GGT, LDH, Total Protein, Albumin, Globulin, A:G Ratio, T3, T4, TSH, Vit. B12, Vit D, HBsAg (Rapid), Ferritin, MAU, Urine R/M

Include : parameters

Specimen : 2ML WB EDTA, 5 ML Serum, 2 ML Fasting Flouride Plasma, Spot Urine

Report Delivery :

11915
3999

Component : CBC, BSR, Bilirubin (Total, Direct, Indirect), SGOT, SGPT, SGOT/SGPT Ratio, Urea, BUN, Creatinine, BUN/Creatinine Ratio, TSH, Urine R/M

Include : parameters

Specimen : 2ML WB EDTA, 5 ML Serum, 2 ML Flouride Plasma, Spot Urine

Report Delivery :

1200

Recent Blog

© 2024 Pathkind Diagnostics Pvt. Ltd. All Rights Reserved | Unsubscribe