Facts about Sickle Cell Disease

S ICKLE cell disease is a group of inherited red blood cell disorders.

Healthy red blood cells are round, and they move through small blood vessels to carry oxygen to all parts of the body. In sickle cell disease, the red blood cells become hard and sticky and look like a C-shaped farm tool called a sickle. The sickle cells die early, which causes a constant shortage of red blood cells. Also, when they travel through small blood vessels, they get stuck and clog the blood flow. This can cause pain and other serious problems.

What causes sickle cell disease?

Sickle cell disease is a genetic condition that is present at birth. It is inherited when a child receives two sickle cell genes – one from each parent.

How is it diagnosed?

Sickle cell disease is diagnosed with a simple blood test

Because children with sickle cell disease are at an increased risk of infection and other health problems, early diagnosis and treatment are important.

What are the symptoms and complications and how are they treated?

People with sickle cell disease start to have symptoms during the first year of life, usually around five months of age. Symptoms and complications of sickle cell disease are different for each person and can range from mild to severe.

Hand-foot syndrome

This is usually the first symptom of sickle cell disease. Swelling in the hands and feet, often along with a fever, is caused by the sickle cells getting stuck in the blood vessels and blocking the flow of blood in and out of the hands and feet.

Treatment: Pain medicine and fluids, such as water.

Pain episodes or crisis

This is the most common complication, and the top reason that people with sickle cell disease go to the emergency room or hospital. When sickle cells travel through small blood vessels, they can get stuck and clog the blood flow. This causes pain that can start suddenly, it can be mild to severe, and can last for any length of time.

Treatment: Pain medicine

Anemia

This is a very common complication.

With sickle cell disease, the red blood cells die early. This means there are not enough healthy red blood cells to carry oxygen throughout the body. When this happens, a person might have:

Tiredness
Irritability
Dizziness and lightheadedness
Fast heart rate
Difficulty breathing
Pale skin color

Jaundice (yellow colour to the skin and white part of the eyes)

Slow growth
Delayed puberty

Treatment: Blood transfusions are used to treat severe anemia.

A sudden worsening of anemia resulting from infection or enlargement of the spleen is a common reason for a transfusion.

Taking iron supplements will not help people with sickle cell disease. This type of anemia is not caused by too little iron in the blood; it is caused by not having enough red blood cells.

In fact, taking iron supplements could harm a person with sickle cell disease because the extra iron builds up in the body and can cause damage to the organs.

Infection

People with sickle cell disease, especially infants and children, are more at risk for harmful infections. Pneumonia is a leading cause of death in infants and young children with sickle cell disease.

Prevention: Vaccinations can protect against harmful infections. Babies and children with sickle cell disease should have all of the regular childhood vaccinations.

In addition, children with sickle cell disease should receive a daily dose of penicillin, an antibiotic medicine, to help prevent infections. This can begin in at two months of age and continue until the child is at least five years of age.

Treatment: Infections are treated with antibiotic medicines and sometimes blood transfusions. At the first sign of an infection, such as a fever, it is important for people with sickle cell disease to see a doctor. Early treatment of infection can help prevent problems.

Acute chest syndrome

This can be life-threatening and should be treated in a hospital. It is similar to pneumonia and symptoms include chest pain, coughing, difficulty breathing, and fever

Treatment: Depending on the cause, treatment might include oxygen, medicine to treat an infection, medicine to open up blood vessels to improve blood flow, and blood transfusions.

Splenic Sequestration

This can be life-threatening and should be treated in a hospital. It happens when a large number of sickle cells get trapped in the spleen and cause it to suddenly get large. Symptoms include sudden weakness, pale lips, fast breathing, extreme thirst, abdominal (belly) pain on the left side of the body, and fast heartbeat. Parents of a child with sickle cell disease should learn how to feel and measure the size of their child’s spleen.

Prevention: For those who have had a very severe, life-threatening episode of splenic sequestration or who have had many episodes in the past, it might be necessary to have regular blood transfusions or the spleen can be removed (called splenectomy) to stop it from happening again.

Treatment: Treatment typically is a blood transfusion.

Vision loss

Vision loss including blindness, can occur when blood vessels in the eyes becomes blocked with sickle cells and the retina gets damaged.

Prevention: People with sickle cell disorder should have their eyes checked every year. If possible, this should be done by an eye doctor (ophthalmologist) who specializes in diseases of the retinal.

Leg ulcers

This usually occurs on the lower part of the leg. They happen more often in males than in females and usually appear from 10 through 50 years of age. The cause of leg ulcers is unclear.

Treatment: Leg ulcers can be treated with wound dressing. Leg ulcers can be painful, and patients can be given strong pain medicine. Bed rest and keeping the leg (or legs) raised to reduce swelling is helpful, although not always possible.

Stroke

A stroke can happen if sickle cells get stuck in a blood vessel and clog blood flow to the brain. About 10% of children with sickle cell disease will have a stroke. Stroke can cause lifelong disabilities and learning problems.

Prevention: Doctors can sometimes identify children who are at risk for stroke using a special type of exam called, Transcranial Doppler ultrasound. In some cases, a doctor might recommend frequent blood transfusions to help prevent a stroke.

People who have frequent blood transfusions must be watched closely because there are serious side effects. For example, too much iron can build up in the body, causing life-threatening damage to the organs.

Other possible complications

Damage to body organs, tissues, or bones because not enough blood is flowing to the affected area(s).

Priapism

Painful erection of the penis, called priapism, which can last less than two hours or more than four hours. If it lasts more than four hours, the person should get urgent medical help. It can lead to impotence.

Is there a cure?

The only cure for SCD is bone marrow/stem cell transplant.

Bone marrow is a soft, fatty tissue inside the center of the bones where blood cells are made. A bone marrow/stem cell transplant is a procedure that takes healthy cells that form blood from one person – the donor – and puts them into someone whose bone marrow is not working properly.

Bone marrow/stem cell transplants are very risky, and can have serious side effects, including death. For the transplant to work, the bone marrow must be a close match. Usually, the best donor is a brother or sister. Bone marrow/stem cell transplants are used only in cases of severe sickle cell disease for children who have minimal organ damage from the disease

Sickle Cell Foundaton Nigeria Editorial Committee.

Can a person be infected with sickle cell disease from someone who has it?

No, a person cannot be infected with sickle cell disease from another person. Sickle cell disease is a genetic condition that is inherited when a child receives two sickle cell genes – one from each parent.

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