Sickle Cell Disorder: Causes, Symptoms, and Treatment

A sickle cell disorder is one legacy no parent will want to bequeath to children and no child will want to inherit from parents, but sadly, it is one of the world’s leading genetic diseases passed on from one generation to the next. Most people are not aware of the disorder or its symptoms.

Sickle cell disease is an inherited condition in which red blood cells become abnormally shaped rather than remaining round and flexible. RBCs have haemoglobin, which carries oxygen to the tissues in the body. In normal cells, haemoglobin is round, smooth, and flexible, so it glides along the blood vessel easily. If you have sickle cell disease, haemoglobin is shaped like rods, and they stick together. This gives RBCs a rigid, abnormal ‘C’ shape, making it tougher for the cells to flow through the blood vessels easily, especially the narrow vessels. As the RBCs are shaped like sickles, the disorder is called sickle cell disorder or sickle cell disease.

Inherited Not Caught

Sickle cell disease is a hereditary condition passed down through genes. That means you are born with it. You cannot get it after birth. A problem in chromosome 11 causes abnormal haemoglobin molecules. You can have sickle cell disease only if you get a defective gene from both your parents. If you inherit the faulty gene from just one parent, you will carry the sickle cell trait. You will not have the disorder, but will be a carrier. You can pass it on to your children if your spouse also has the trait.

Causes

Sickle Cell Disorder (SCD) is an inherited condition caused by a mutation in the HBB gene, which controls the production of haemoglobin, the protein that carries oxygen in red blood cells. A variation in this gene leads to the production of an abnormal type of hemoglobin known as hemoglobin S.

Healthy red blood cells are round and flexible, enabling them to travel smoothly through blood vessels and transport oxygen effectively. In contrast, red blood cells with haemoglobin S can become rigid and C-shaped, causing them to clump together and block blood flow. These cells also have a shorter lifespan, which can reduce oxygen delivery to tissues and organs.

A child develops SCD only if they inherit two defective genes, one from each parent. If a person inherits only one defective gene, they remain healthy but become a carrier of the disorder. When both parents are carriers, there is a one in four chance that their child will inherit SCD.

Effects of Sickle Cell Disease

• The abnormally shaped RBCs block blood vessels, hindering blood flow to organs.
• The cells die quickly, within 10-20 days, while normal RBCs live for 90-120 days. The rate at which they die is faster than the rate at which new cells are formed.

Symptoms

Symptoms appear early, within the first few months after birth. They include

• Irritability
• Swollen hands and feet
• Yellowing of the skin and the whites of the eyes

As the child grows, the symptoms increase and include:

• Breathing problem
• Dizziness
• Fast heart rate
• Fatigue
• Irritability
• Pale skin
• Delayed growth
• Delayed puberty
• Frequent infections
• Vision problems
• Bouts of pain called Pain Crisis

Pain Crisis

If you have a sickle cell disorder, pain will be your unwelcome and regular visitor. When the sickle cells block a blood vessel, cutting off the blood supply to tissues and organs, they become oxygen-starved. This results in intense, sudden pain that can be sharp or throbbing. These episodes are called pain crises and can occur in the arms, stomach, chest, lower back, or legs, depending on the position of the block. The pain can last a few hours or weeks and may sometimes require hospitalisation.

Complications

Sickle Cell Disorder increases your chances of stroke, heart disease, blindness, and bone problems, as blood flow to organs can be compromised, often leading to kidney, liver, heart, lung, and spleen damage.

What Does It Mean If You Have Sickle Cell Trait?

You will not have the disease, but you may want to be prepared when you start a family. A simple blood test will let you know if your partner has sickle cell trait.

If both parents carry the trait, their child has a 25% chance of having the disease and a 50% chance of inheriting the trait. If one of you has the trait, then your baby will not have the disease, but will have a 50% chance of having the trait and becoming a carrier. Talk to your doctor for guidance and support.

Treatment

Although Sickle Cell Disorder (SCD) has no universal cure, treatments help manage symptoms, prevent complications, and improve quality of life.

Medications and Supportive Care: Pain relievers, hydroxyurea, L-glutamine, Crizanlizumab, folic acid, and plenty of fluids help reduce pain crises and protect red blood cells. Antibiotics and vaccines prevent infections.

Blood Therapies: Blood transfusions and red blood cell exchanges treat anaemia, reduce sickled cells, and prevent complications like strokes.

Curative Options: Bone marrow or stem cell transplants can cure SCD in severe cases. Gene therapy is emerging as a potential long-term solution.

Lifestyle and Monitoring: Staying hydrated, following medications, and regular checkups help manage the disease and improve overall health.

Frequently Asked Questions