SICKLE CELL ANEMIA

 Overview

Sickle cell anemia is the most common inherited blood disorder in the world.

Sickle Cell anemia is an autosomal inherited disease in which the shape of haemoglobin changes from spheroidal to crescent sickle shape. This reduces the blood carrying capacity of haemoglobin causing various problems like anemia, pain in joints, stroke and so on.

Normal haemoglobin lives for about 120 days whereas sickle celled haemoglobin lives for just about 10 to 20 days. The cells become rigid and get stuck in narrow blood vessels, blocking them.

What is sickle cell anemia?

As we have told earlier, sickle cell anemia is an autosomal inherited disease.

An autosomal inherited disease is a disease that passes from parents to progeny. If you have sickle cell anemia, maybe your parents have it to or maybe they are carriers of the diseased genes.

We know that our DNA has a number of genes that produce various proteins, which make our body functional. When one such gene produces a correct structure of haemoglobin. If this gene is even slightly different, the protein produced is completely different. We call that type of gene "mutated gene". If a person has 2 mutated genes, he has the disease. If a person has 1 mutated gene, he is a carrier.

Our haemoglobin has 2 alpha and 2 beta chains that combine together by various organic bonds creating 1 complete haemoglobin molecule.

Sickle cell anemia is caused due to mutation in a gene that produces the beta-globin chain of the haemoglobin molecule. The mutation is a point mutation, that means a change in one single base pair the complete gene causes the disease. This causes the shape of the haemoglobin molecule to change.

Normal haemoglobin molecule carries about 4 oxygen molecules, while sickle cells carry only 2 oxygen molecules, which is the main cause of oxygen deficiency.

When is it diagnosed?

A baby is born with sickle cell anemia. It's first symptoms are shown between 4 to 6 months of growth.

Symptoms

Symptoms of sickle cell anemia are as follows.

1.Anemia

2.Fever

3. Episode of pain in any part of body mainly chest, joints and abdomen

4. Vision problem

5. Swelling in hands and legs

6. Symptoms of stroke

7. Fatigue

8. Jaundice

9. Frequent infections

Life Expectancy

A person born with sickle cell anemia can live for about 40 to 60 years of age. They can die suddenly prior to that age too. There's no guarantee of life when you are suffering from sickle cell anemia. 

Treatment

Sickle cell anemia can't be permanently cured, but there's a ray of hope if you go for bone marrow transplant.

Other than that there are several treatments available that might help you live longer with your condition like rehydration therapy, blood transfusion and so on.

Conclusion

Sickle cell anemia doesn't itself become the cause of death. If the supply of oxygen is reduced in various organs, they malfunction and cause death. If the same problem happens with the heart, the person dies. But sickle cell anemia can be treated. It's first case was diagnosed in 1856, but the baby died before his first birthday. Since then the technology has developed so much that the average life expectancy of a person suffering from sickle cell anemia is about 45 years of age, but if he is diagnosed. If you have any related symptoms you should consult a doctor immediately.

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