UNVEILING THE TRUTH BEHIND SICKLE CELL

People have different understanding/knowledge about Sickle Cell. What is it that you know or believe about Sickle Cell? In this article, our aim is to unveil the truth behind Sickle Cell so that you become more knowledgeable about this disease.

What is Sickle Cell Anemia and How did we come about the name?

Basically, Sickle Cell is a genetic disease caused due to defective Red blood cell in the body, when a person inherits gene (S) from both parents. In this case, there aren’t enough healthy red blood cells to carry oxygen throughout the body. Normally, the red blood cells are round in shape, flexible and move easily through blood vessels.

In sickle cell anemia, the red blood are shaped like  a farm tool called sickles used in harvesting rice or corn or shape of crescent moons. And that’s how the name came about.

What are the symptoms of Sickle Cell Anemia?

The symptoms vary in people and they usually appear around 5 months of age or 6 months at most. The signs and symptoms can include:

1. Anemia. sickle cells break apart easily and die, leaving the body withtoo few red blood cells. Withoutenough red blood cells, your body can’t get enough oxygen, causing fatigue.
2. Series ofpain- Periodic pain, called pain crises, are a major symptom of sickle cell anemia. Pain develops when sickle-shaped red blood cells block blood flow through tiny blood vessels to the chest, abdomen and joints. Pain can also occur in your bones.
3. Swelling of hands and feet: The swelling is caused by sickle-shaped red blood cells blocking blood flow to the hands and feet.
4. Frequent infections-Sickle cells can damage the body spleen, leaving the body morevulnerable to infections. Infants and children with sickle cell anemia are vaccinated with antibiotics to prevent potentially life-threatening infections, such as pneumonia.
5. Delayed growth or puberty. Red blood cells provide the bodywith the oxygen and nutrients needed for growth. A shortage of healthy red blood cells can slow growth in infants and children and delay puberty in teenagers.
6. Vision problems. Tiny blood vessels that supply the eyescan become plugged with sickle cells. This can damage the retina — the portion of the eye that processes visual images — and lead to vision problems.

Causes

Sickle cell anemia is caused by a mutation in the gene that tells the body to make the iron-rich compound that makes blood red and enables red blood cells to carry oxygen from lungs throughout the body (hemoglobin). In sickle cell anemia, the abnormal hemoglobin causes red blood cells to become rigid, sticky and misshapen.

Traits/carriers.

If only one parent passes the sickle cell gene to the child, that child will have the sickle cell trait. With one normal hemoglobin gene and one defective form of the gene, people with the sickle cell trait make both normal hemoglobin and sickle cell hemoglobin. The carriers show no symptoms of Sickle Cell but can transfer it to their children.

What are the types of sickle cell disease?

1. Hemoglobin SS disease- It occurs when a child inherit copiesof the hemoglobin S gene from both parents. This forms hemoglobin known as Hb SS. As the most severe form of SCD, individuals with this form also experience the worst symptoms at a higher rate.
2. Hemoglobin SC disease- It occurs when you inherit the Hb C gene from one parent and the Hb S gene from the other. Individuals with Hb SC have similar symptoms to individuals with Hb SS
3. HemoglobinSB+ (beta) thalassemia- Hemoglobin SB+ (beta) thalassemia affects beta globin gene production. The size of the red blood cell is reduced because less beta protein is made. If a person inherited S gene, they willhave hemoglobin S beta thalassemia. Symptoms are not as severe.
4. Hemoglobin SB 0 (Beta-zero) thalassemia- It has similar symptoms to Hb SS anemia. However, sometimes the symptoms of beta zero thalassemia are more severe. It is associated with a poorer prognosis.
5. Hemoglobin SD, hemoglobin SE, and hemoglobin SO- These types of sickle cell disease are more rare and usually don’t have severe symptoms.

Risk factors

For a baby to be born with sickle cell anemia, both parents must carry a sickle cell gene.

Complications.

Sickle cell anemia can lead to a host of complications, including Stroke, Seizure, even coma, Acute chest syndrome, Pulmonary hypertension, Organ damage, Blindness, Leg ulcers, poor hydration, Severe anemia, etc.

Treatment

1. A number of different treatments are available for SCD. There’s no cure for most people with sickle cell anemia but treatments can relieve pain and help prevent complications associated with the disease.
2. Rehydration with intravenous fluids helps red blood cells return to a normal state. The red blood cells are more likely to deform and assume the sickle shape if you’re dehydration.
3. Treating underlying or associated infections is an important part of managing the crisis, as the stress of an infection can result in a sickle cell crisis. An infection may also result as a complication of a crisis.
4. Blood transfusions improve transport of oxygen and nutrients as needed. Packed red cells are removed from donated blood and given to patients.
5. Supplemental oxygen is given through a mask. It makes breathing easier and improves oxygen levels in the blood.
6. Pain medication is used to relieve the pain during a sickle crisis. You may need over-the-counter drugs or strong prescription pain medication like morphine.
7. Bone marrow transplant has also been used to treat sickle cell anemia. Children younger than 16 years of age who have severe complications and have a matching donor are the best candidates but it’s a dangerous process.

Prevention

If you carry the sickle cell trait, seeing a genetic counselor before trying to conceive can help you understand your risk of having a child with sickle cell anemia. They can also explain possible treatments, preventive measures and reproductive options

Make sure to go for test with your intended partner, to confirm your compatibility, AA can Mary AA, AS, etc, but AS is not compatible with AS because both are traits/Sickle cell carriers.

Myths and Facts About Sickle Cell

MYTH: All individuals with SCD are drug addicts.

FACT: The hallmark of SCD is severe unpredictable pain sometimes requiring high doses of narcotics.

MYTH: Individuals with SCD don’t live past the age of 21.

FACT: The vast majority of individuals live well into adulthood.

MYTH: Bone marrow (stem cell) transplant is a universal cure.

FACT: Not all individuals with SCD are eligible for stem cell transplant. There are associated risks.

Article Sources:

Facts about sickle cell disease. (2016, November 17). http://www.cdc.gov/ncbddd/sicklecell/facts.htmlTrusted Source

Mechanisms of genetically-based resistance to malaria. Gene, 467(1-2), 1-12 https://www.ncbi.nlm.nih.gov/pubmed/20655368Trusted Source

Sickle cell anemia – www.mayoclinic.com

Risk associated with bone marrow transplant – Dr. Eghosa

Myths and facts – onescdvoice.com

Sickle cell complications – healthline.com