Sickle Cell Anaemia 2021

Overview

I know you have never heard of Sickle Cell Anaemia. Sickle cell anaemia is a type of Anaemia, which is one of a group of disorders known as sickle cell disease. Sickle cell anaemia is an inherited RBC (Red Blood Cell) disorder in which there aren’t enough healthy red blood cells to carry oxygen throughout your body.

In Sickle cells anaemia, the red blood cells don’t have the normal round concave shape, they have a crescent/crescent shape. This makes it hard for them to move around blood vessels, reducing their functioning capacity. This reduces the movement and therefore oxygen delivery to various tissues in the body.

Treatment and management of Sickle cell Anaemia is mostly palliative care – Palliative care is specialized medical care for people living with a serious illness. This is because there is no cure for most people with Sickle cell Anaemia. Therefore its management involves the management of pain and preventing complications associated with the condition.

Signs and Symptoms.

Signs and symptoms of sickle cell disease vary from person to person. These signs and symptoms may vary from person to person and usually appear after between five to six months of age. These include:

• Swelling of extremities. The swelling is because of the sickle-shaped red blood cells, blocking blood flow in blood vessels due to their shape.
• Problems associated with vision. The sickle-shaped cells might clog in the tiny blood vessels that supply the retina, leading to problems associated with vision.
• Delayed growth. This is due to poor delivery of Oxygen delivery to cells – Remember that cells require oxygen, which is supplied by Red blood cells for growth. This causes delayed growth and children might even reach puberty late.
• Increased vulnerability to infections. In sickle cell patients, the spleen is damaged by these sickle-shaped cells, therefore these patients are more vulnerable to infections. That is why you will notice that infants and children with conditions will be prescribed Antibiotics and sickle cell vaccine as prophylaxis for potentially life-threatening infections.
• Anaemia causing fatigue. Generally, red blood cells have a lifespan of 120 days before they are destroyed in the Spleen. In Sickle cell Anemia, the cells die in 10 to 20 days. This causes a decrease in the number of red blood cells in the body, and as we know, oxygen is vital to the body tissues for metabolism. This is why most patients with sickle cell disease tend to be fatigued at most times.

Causes

Sickle cell anaemia is caused by a mutation in the gene responsible for making the iron-rich compound – haemoglobin. In sickle cell anaemia, there is the production of abnormal haemoglobin. This causes the red blood cells to adopt a sickle-shaped or crescent-shaped structure, this makes it harder for them to move around blood vessels, and therefore decreased oxygen-carrying capacity and oxygen delivery to tissues.

Sickle cell anaemia can be inherited meaning both the mother and father must pass the defective form of the gene to the child, infecting them.

If only one of the parents has the sickle cell trait and passes the gene to the child, that child will have the sickle cell trait(the child will have one normal haemoglobin gene and one defective form of the gene), people with the sickle cell trait make both normal haemoglobin and sickle cell haemoglobin.

Their blood might contain some sickle cells, but they may not necessarily have symptoms. They are carriers of sickle cell disease which meaning they can pass the sickle cell gene to their children.

Prevention

Patients with sickle cell traits are often sought advice from a genetic counsellor before planning to conceive a child. Here they will be educated and advised on the risk of having a child with sickle cell anaemia and helped to make informed decisions.

Diagnosis of Sickle-cell Anemia

• Screening of Blood for Sickle cells.

Diagnosis mostly involves a screen of blood to check if there is a presence of sickle cell cells. in developed countries like America, screening is done on newborns as part of the routine.

Doctors can also refer Parents with the Sickle cell trait to a genetic counsellor.

• Assessment of Stroke risk

There is also an assessment of Stroke risk. We do this with the help of an ultrasound machine. Stroke in sickle-shaped patients can be reduced through regular blood transfusion.

• Tests to detect sickle cell genes before birth.

You can also diagnose Sickle Cell before birth by a screening of amniotic fluid which surrounds the child in the mother’s womb

Treatment of Sickle-cell Anemia

Treatment of sickle cell anaemia is mostly Palliative care, meaning management of pain and prevention of associated complications. Blood transfusion and medication are the main methods we use for treatment. A bone marrow stem cell transplant may also be recommended to cure the condition.

Medications :

The medications mostly used in the treatment of sickle cell anaemia include:

1. 1. Pain-relieving medications o reduce pain associated with sickle cell disease. e.g. Narcotics. These are prescription-only medications. You should never self-medication as it is dangerous to your health.
   2. Voxelotor (Oxbryta). This drug has recently been approved to improve anaemia in people with sickle cell disease. The possible side effects of using Vexelotor include headache, nausea, diarrhoea, fatigue, rash and fever.
   3. L-glutamine oral powder (Endari). The FDA recently approved this drug for the treatment of sickle cell anaemia. It helps in reducing the frequency of pain crises.
   4. Hydroxyurea (Droxia, Hydrea). Daily hydroxyurea reduces the frequency of painful crises and might reduce the need for blood transfusions and hospitalizations. It can also increase your risk of infections. Don’t take the drug if you’re pregnant.

Preventing infections

Children between the age of 2 months to at least 5 years of age are given prophylaxis against diseases like Pneumonia, which can be life-threatening to children having the condition. The Drug mostly used is Penicillin.

The children should also receive the recommended vaccination as they are more. vulnerable to the diseases. For adults who have had surgical procedures to remove the spleen, or have a history of pneumonia, we can also use penicillin to prevent infections throughout their lifetime.

Other procedures

• bone marrow transplant.

We can also call this procedure a Stem cell transplant. The procedures are usually recommended for children with significant symptoms and complications, this is because it is a very risky procedure. In the procedure, the affected bone marrow cells are replaced with healthy ones from an individual without the sickle cell trait (a donor) – as long as they are compatible. The procedure usually uses a matched donor, such as a sibling, who does not have sickle cell anaemia. Even the procedure is usually successful, in some cases, the body might reject the transplant, leading to life-threatening complications.

• Blood transfusions.

Doing this increases the number of normal red blood cells, which helps reduce symptoms and complications. There are risks of blood infusion, including an immune response against the transfused blood, which can be life-threatening if not well managed.

Also read: Other Types of Anemia