What is Sickle Cell Anaemia?

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sickle cell anaemia

What is Sickle Cell Anaemia?

Sickle cell anemia is the genetic disease of abnormal red blood cells means the cells become rigid, sticky and crescent moon-shaped and therefore obstruct the healthy blood flow.

what is sickle cell anaemia?
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The potential Causative factor behind Sickle cell Disease (SCD)?

The disease caused by a mutation in the HBB gene leads to the formation of abnormal hemoglobin protein called HbS. The HbS proteins stick together and form the rigid structure inside the RBCs.This formation misshapen the RBCs and causing them trapped into tiny vessels.

The disease passes from generation to generation means the defective gene must pass from mother and father to the child. Also if the gene passes from one parent, then the child will have both normal and sickle cell hemoglobin and this called a Sickle cell trait. In this case, a child does not show any symptoms but the children can pass the genes to the next generation as they are a carrier of the disease.

Types of Sickle cell disease

types of SCD

In RBCs, there is one protein called hemoglobin which contains two alpha and beta chains and responsible for carrying oxygen to the rest of the body. There is a possibility of four types of sickle cell anemia as mutations in these genes.

1.Haemoglobin SS disease

This is the most common type when you inherit copies of the hemoglobin S gene from both parents and forms the Hemoblobin SS.Patients with Hb SS experience the worst symptoms.

2.Haemoglobin SC disease

This is also the common occurring condition when you inherit the Hb C gene from one parent and Hb S gene from the other. But the severity is less.

3.Haemoglobin SB+ thalassemia

Here the beta chain of Haemoglobin is affected which results in less production of RBCs because of less beta protein. If you inherited with the Hb S gene, you may have hemoglobin S beta-thalassemia.

4.Haemoglobin SD, hemoglobin SE, and Hemoglobin SO

This is the rarest type and doesn’t have any severity.

Symptoms of sickle cell anemia

The disease shows its symptoms at a very early age that means the symptoms appear in a 4-month-old baby. There are different types of sickle cell anemia and each has similar symptoms but their severity is varied from person to person and changes over time. These are the below possible signs and symptoms of sickle cell Anemia.

1.Painful Swelling in hand and feet due to blockage of blood flow

blockage of blood flow
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It is usually a first symptom of sickle cell anaemia caused by the sickle cells getting stuck in blood vessels.

2.Anemia

anemia
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The duration span of Red Blood cell is 120 days but the sickle cells die within 10 to 20 days and thus reducing the number of RBCs causing the Anaemia. Without RBCs body does not get enough oxygen to function properly.

3.Pain in different body parts

pain in body parts
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As I mentioned in the previous part Red blood cell becomes misshapen which causes the blockage of blood flow flowing in tiny vessels to your chest, abdomen, and joints. This is the major symptom of Sickle cell disease and pain intensity differs from few hours to few weeks. Severe pain results in bone and joint damage and other health issues as well.

4.Chances of Infections

chances of infection increases
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Sickle cells damage the organs which fight with infections such as Spleen and leaving the body most susceptible to infections like Pneumonia and others.

5.Delayed Growth

delayed growth
image credit: healthline.com

Red blood cells are essential for healthy growth and its deficiency causes slow growth in infants and delays puberty in teenagers.

6.Vision Problems

vision problems
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Tiny blood vessels in eyes might get plugged with sickle cells and damage the retina needed for visual images, therefore, results in visual impairment.

7.Bedwetting due to kidney problems

kidney problems
image credit: parashospitals.com

Bedwetting is also known as nocturnal enuresis, is a state of involuntary urination due to kidney disorders.

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