September is observed as Sickle Cell Awareness Month in many countries. During the month activities are organized to draw attention to sickle cell disease (SCD), a genetic disease that affects individuals in many countries including Anguilla.
What is sickle cell disease?
The term sickle cell disease (SCD) describes a group of inherited red blood cell disorders. People with SCD have abnormal haemoglobin, called haemoglobin S or sickle haemoglobin, in their red blood cells.
Haemoglobin is a protein in red blood cells that carries oxygen throughout the body.
In those individuals with SCD, their red blood cells become hard and sticky and look like a C-shaped farm tool called a “sickle”. The sickle-shaped cells die early, which causes a constant shortage of red blood cells.
“Inherited” means that the disease is passed by genes from parents to their children. SCD is not contagious. A person cannot catch it, like a cold or infection, from someone else.
People who have SCD inherit two abnormal haemoglobin genes, one from each parent. In all forms of SCD, at least one of the two abnormal genes causes a person’s body to make haemoglobin S. When a person has two haemoglobin S genes, Haemoglobin SS, the disease is called sickle cell anemia. This is the most common and often most severe kind of SCD.
Who gets sickle cell disease?
Sickle cell disease (SCD) affects people of many racial and ethnic groups but is more common in individuals of African descent. Other people affected include those of Mediterranean, Middle Eastern, and Asian origin. In addition, more than 2 million people carry the sickle cell gene that allows them potentially to pass the disease on to their children.
What are some signs and symptoms of sickle cell disease?
If a person has sickle cell disease (SCD), it is present at birth, but most infants do not have any problems from the disease until they are about 5 or 6 months of age.
Some children with SCD will start to have problems early on, and some later. Early symptoms of SCD may include:
• Painful swelling of the hands and feet
• Fatigue or fussiness from anaemia
• A yellowish colour of the skin, known as jaundice, or whites of the eyes, known as icteris.
The signs and symptoms of SCD will vary from person to person and can change over time. Most of the signs and symptoms of SCD are related to complications of the disease.
Major Complications of Sickle Cell Disease
Acute Pain (Sickle Cell or Vaso-occlusive) Crisis
Pain episodes (crises) can occur without warning when sickle cells block blood flow and decrease oxygen delivery. People describe this pain as sharp, intense, stabbing, or throbbing. Severe crises can be even more uncomfortable than post-surgical pain or childbirth.
Pain can strike almost anywhere in the body and in more than one spot at a time. But the pain often occurs in the lower back, legs, arms, abdomen and chest.
A crisis can be brought on by illness, temperature changes, stress and dehydration. Very often a person does not know what triggers, or causes, the crisis.
Chronic Pain
Many adolescents and adults with SCD suffer from chronic pain. This kind of pain has been hard for people to describe, but it is usually different from crisis pain or the pain that results from organ damage.
Severe Anaemia
People with SCD usually have mild to moderate anaemia. At times, however, they can have severe anaemia. Severe anaemia can be life threatening.
No matter the cause, severe anaemia may lead to symptoms that include:
• Shortness of breath
• Being very tired
• Feeling dizzy
• Having pale skin
Babies and infants with severe anaemia may feed poorly and seem very sluggish.
Infections
The spleen is important for protection against certain kinds of germs. Sickle cells can damage the spleen and weaken or destroy its function early in life.
People with SCD who have damaged spleens are at risk for serious bacterial infections that can be life-threatening.
Acute Chest Syndrome
Sickling in blood vessels of the lungs can deprive a person’s lungs of oxygen. When this happens, areas of lung tissue are damaged and cannot exchange oxygen properly. This condition is known as acute chest syndrome. In acute chest syndrome, at least one segment of the lung is damaged.
This condition is very serious and should be treated right away at a hospital.
Acute chest syndrome often starts a few days after a painful crisis begins. A lung infection may accompany acute chest syndrome.
Brain Complications
Clinical Stroke
A stroke occurs when blood flow is blocked to a part of the brain. When this happens, brain cells can be damaged or can die. In SCD, a clinical stroke means that a person shows outward signs that something is wrong. The symptoms depend upon what part of the brain is affected.
Eye Problems
Sickle cell disease can injure blood vessels in the eye.
Heart Disease
People with SCD can have problems with blood vessels in the heart and with heart function. The heart can become enlarged.
Kidney Problems
The kidneys are sensitive to the effects of red blood cell sickling.
SCD causes the kidneys to have trouble making the urine as concentrated as it should be. This may lead to a need to urinate often and to have bedwetting or uncontrolled urination during the night (nocturnal enuresis). This often starts in childhood.
Priapism
Males with SCD can have unwanted, sometimes prolonged, painful erections. This condition is called priapism.
Priapism happens when blood flow out of the erect penis is blocked by sickled cells. If it goes on for a long period of time, priapism can cause permanent damage to the penis and lead to impotence.
If priapism lasts for more than 4 hours, emergency medical care should be sought to avoid complications.
Gallstones
When red cells haemolyze, they release haemoglobin. Haemoglobin gets broken down into a substance called bilirubin. Bilirubin can form stones that get stuck in the gallbladder. The gallbladder is a small, sac-shaped organ beneath the liver that helps with digestion. Gallstones are a common problem in SCD.
Gallstones may be formed early on but may not produce symptoms for years.
If problems continue or recur, a person may need surgery to remove the gallbladder.
Leg Ulcers
Sickle cell ulcers are sores that usually start small and then get larger and larger.
The number of ulcers can vary from one to many. Some ulcers will heal quickly, but others may not heal and may last for long periods of time. Some ulcers come back after healing. People with SCD usually do not get ulcers until after the age of 10.
Joint Complications
Sickling in the bones of the hip and, less commonly, the shoulder joints, knees, and ankles, can decrease oxygen flow and result in severe damage. This damage is a condition called avascular or aseptic necrosis. This disease is usually found in adolescents and adults.
Pregnancy
Pregnancies in women with SCD can be risky for both the mother and the baby.
Mothers may have medical complications including:
• Infections
• Blood clots
• High blood pressure
• Increased pain episodes
They are also at higher risk for:
• Miscarriages
• Premature births
• “Small-for-dates babies” or underweight babies.
Mental Health
As in other chronic diseases, people with SCD may feel sad and frustrated at times. The limitations that SCD can impose on a person’s daily activities may cause them to feel isolated from others. Sometimes they become depressed.
People with SCD may also have trouble coping with pain and fatigue, as well as with frequent medical visits and hospitalizations.
How Is Sickle Cell Disease Diagnosed?
Screening Tests
People who do not know whether they make sickle haemoglobin (hemoglobin S) or another abnormal haemoglobin (such as C, ? thalassemia, E) can find out by having their blood tested. This way, they can learn whether they carry a gene (i.e., have the trait) for an abnormal haemoglobin that they could pass on to a child. These tests can be done in Anguilla.
Living with sickle cell disease
Sickle cell disease is a life-long illness. The severity of the disease varies widely from person to person.
People with SCD can live productive lives and enjoy most of the activities that people without SCD do. These are some things that people with SCD can do to stay as healthy as possible:
• Get regular checkups. Regular health checkups with a primary care doctor can help prevent some serious problems.
• Prevent infections. Common illnesses, like influenza can quickly become dangerous for a child with SCD. The best defense is to take simple steps to help prevent infections.
In the last twenty years the life expectancy of a person with SCD has increased dramatically in many countries, including Anguilla. In some countries, the life expectancy of a person with SCD is now about 40–60 years. Advances in the diagnosis and care of SCD have made this improvement possible.
At the present time, haematopoietic stem cell transplantation (HSCT) is the only cure for SCD. Unfortunately, most people with SCD are either too old for a transplant or do not have a relative who is a good enough genetic match for them to act as a donor. A well-matched donor is needed to have the best chance for a successful transplant.
There are effective treatments that can reduce symptoms and prolong life. Early diagnosis and regular medical care to prevent complications also contribute to improved well-being.
Pregnancy
Pregnant women with SCD are at greater risk for problems. They should always see an obstetrician who has experience with SCD and high-risk pregnancies and deliveries.
The obstetrician should work with other medical doctors who are well informed about SCD and its complications.
Pregnant women with SCD need more frequent medical visits so that their doctors can follow them closely. The doctor may prescribe certain vitamins and will be careful to prescribe pain medicines that are safe for the baby.
A pregnant woman with SCD may need to have one or more blood transfusions during her pregnancy to treat complications, such as worsening anaemia or an increased number of pain or acute chest syndrome events.
Conclusion
Sickle cell disease is a hereditary blood disorder affecting red blood cells. The cells become sickled shaped hence the name. The disorder is passed on to a child from his or her parents, but it is not an infective or contagious condition. It is a life long illness, but its signs and symptoms vary from one individual to another. If you or your child has sickle cell disease (SCD), you should learn as much as you can about the disease. Your healthcare providers are there to help you, and you should feel comfortable asking questions.
Ask Your Doctor is a health education column and is not a substitute for medical advice from your physician. The reader should consult his or her physician for specific information concerning specific medical conditions. While all reasonable efforts have been made to ensure that all information presented is accurate, as research and development in the medical field is ongoing, it is possible that new findings may supersede some data presented.
Dr Brett Hodge MB BS DGO MRCOG, is an Obstetrician/Gynaecologist and Family Doctor who has over thirty-two years in clinical practice. Dr Hodge has a medical practice in The Johnson Building in The Valley (Tel: 264 4975828).
