What is Sickle Cell Anaemia? Who can get affected? How to treat it?

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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.

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 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.

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.

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.

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.

Haemoglobin SD, hemoglobin SE, and Hemoglobin SO

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

Symptoms experienced by Sickle Cell Anaemic patient

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.

Anemia

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.

Pain in different body parts

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.

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

Chances of Infections

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

Delayed Growth

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

Vision Problems

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

Bedwetting due to kidney problems

What type of people get affected and what are the complications of SCD?

First of all, if parents are the sickle cell trait, then the child might get affected. For this, the hemoglobin electrophoresis blood test is done to determine which type of cells the child will carry.

Secondly, the area which is endemic malaria is more likely to get affected such as India, Africa, Saudi Arabia, and the Mediterranean.

Various types of Complications arise due to obstructing blood flow in various areas of the body and sometimes it leads to fatality if not proper treatment is done.

Brain Stroke

If sickle cells prevent the blood flow in an area of the brain which leads to epilepsy, numbness, slurred speech, unconsciousness, etc. Required to take medical attention to prevent other health issues.

Acute Chest Syndrome

This is because of lung infections as of blocked blood vessels in the lungs which makes difficult breathing, chest pain, and fever.

Pulmonary Hypertension

High blood pressure develops in the lungs due to SCD and leads to shortness of breath and fatigue which can be fatal.

Organ Damage

Lack of blood flow and oxygen chronically damage the nerves and organs of the body including kidneys, liver, and spleen and that can be fatal.

Leg ulcers

SCD causes open sores called ulcers on your legs.

Gallstones

Here the causative factor is not blocked blood flow but instead, The breakdown of Red blood cells produces the byproduct called bilirubin and a high level of bilirubin forms the gallstones.

Priapism

Men with SCD have the painful and long-lasting erections in the penis because of blocked blood vessels. This may result in penis damage and impotence.

Splenic Sequestration

This is the damage of splenic vessels in the spleen causes the sudden enlargement of the spleen. The spleen needs to be removed but the patient without a spleen is at high risk of infections by bacterias like streptococcus, Haemophilus, etc.

Various Treatment approaches

Treatments include the medications to get relief of pain and prevent further complications. Currently, stem cell transplantation is the potential cure for disease and the approved as well. Others are blood transfusions and some Home remedies to treat the condition.

Medications

Antibiotics: The penicillin, an antibiotic is given to the SCD affected a child at the age of 2 months old and continue until the age of 5 years. The drug is used to prevent infectious conditions such as Pneumonia which might prove to be fatal for infants or children with SCD.

Hydroxyurea: The drug works by stimulating the production of fetal hemoglobin which is found in newborns that helps in preventing the formation of Sickle cells. If taken daily, it reduces the frequency of painful crises and may reduce the chances of blood transfusions and hospitalization.

 Be cautious as its long term usage might increase the probability of infections and other health problems. Also, don’t they prescribe to the expecting mothers?

Pain Relieving Medication: To relieve the painful sensations, doctors prescribe the over the counter pain relievers and also advice the apply a heating pad to the affected area.

Bone Marrow transplant

Also called the Stem cell transplant. The procedure involves replacing the SCD affected bone marrow with healthy bone marrow from a donor. For this, the matched donor is needed such as siblings without SCD. But in most cases, the donors are not available and therefore stem cells from umbilical cord blood are only the option.

If the donor is found, then transplantation is done by injecting the healthy stem cells intravenously into an affected patient and it migrates to the bone marrow and starts producing new blood cells.

This treatment option is only recommended to the patients with significant symptoms and problems from sickle cell anemia. Also, it requires a lengthy hospital stay and doctors prescribe the medications to help prevent the rejections of donated stem cells. In some cases, the body might reject the transplant which causes life-threatening conditions.

Blood Transfusions

In this treatment, RBCs are given intravenously from a healthy donor to the patient which increases the possibility of normal RBCs in circulation and relieves anemia. This treatment option might decrease the risk of other complications but carry some risk as well. As it increases the iron in the body which can damage the liver, heart and other organs, therefore, regular transfusions need a side treatment to reduce iron levels.

Oxygen supply

Here the potential cause is the lack of oxygen which damages the organs, therefore, an oxygen mask is the option to supply extra oxygen in systemic circulation to breath easily. Also, it decreases the intensity of chest syndrome and sickle cell crisis.

Experimental treatment Options

Statins

The drugs generally use to lower down cholesterol but also help to decrease the inflammation. In SCD, it makes healthy blood flow through vessels.

Nitric Oxide

Nitric Oxide: patient suffering with SCD has a low level of nitric oxide in the blood results in clumping of RBCs.Nitric oxide keeps the capillary open and avoids the stickiness of RBCs.Nitric oxide with other combination treatment improves the condition.

Gene Therapy

The important causative factor is the faulty gene, therefore, scientists are experimenting whether inserting the regular gene in the bone more of an affected individual whether to produce regular hemoglobin or not. Still, this treatment is a long way off and not any trials with genes have been done yet.

Home Remedies

Include a high intake of folic acid supplements as bone marrow required folic acid and other vitamins for the formation of healthy red blood cells. Therefore add some green leafy vegetables, fruits, and entire grains to boost folic acid level.

Use a heating pad to relieve from painful swelling of hands and feet.

Hydrate the body at most to avoid the chances of sickle cell crises. Thus take at least 8 glasses of water in a day and increase the water intake if you workout and hang out in a dry environment.

Prevent exposure to direct heat or cold environment as it may increase the risk of sickle cell crises. Exercise daily to reduce the stress level but consult the doctor.

Take Over the counter medications for painful effects after consulting the doctor as sometimes taking decongestants like pseudoephedrine constricts the blood vessels and thus sickle cell might not flow thoroughly.

Consult the doctor immediately if you find any infractions as immediate consultation reduces the risk of upcoming severe complications.

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