This is one of the most common inherited blood cell disorders in Anguilla, and the disease is a life-long illness. The severity of the disease varies widely from person to person, but recent advances have allowed the life expectancy of a person with sickle cell disease to increase steadily – and it is now about 40–60 years in many countries.
What is sickle cell disease (SCD)?
This inherited red blood cell disorder mainly affects people of African, Caribbean, Middle Eastern, Eastern Mediterranean and Asian origin. Individuals with SCD have abnormal haemoglobin, called haemoglobin S or sickle haemoglobin, in their red blood cells.
Normally, your red blood cells are flexible and round, moving easily through your blood vessels. In sickle cell disease, the red blood cells become rigid and sticky and are shaped like sickles or crescent moons. These irregularly shaped cells can get stuck in small blood vessels which can slow or block blood flow and oxygen to parts of the body.
“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.
What causes sickle cell disease?
Sickle cell disease is caused by a mutation in the gene that tells your body to make the red, iron-rich compound that gives blood its red colour (haemoglobin). Haemoglobin allows red blood cells to carry oxygen from your lungs to all parts of your body.
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 hemoglobin S genes, Haemoglobin SS, the disease is called sickle cell anaemia. This is the most common and often most severe kind of SCD.
If only one parent passes the sickle cell gene to the child, that child will have the sickle cell trait. With 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 generally do not have symptoms. These individuals are carriers of the disease, which means they can pass the gene to their children.
Diagnosis
A blood test can be used to confirm the diagnosis of this blood cell disorder. The diagnosis can also be made prenatally, using special tests.
Screening tests are available in Anguilla to allow parents to know whether they carry a gene (i.e., have the trait) for abnormal haemoglobin that they could pass on to a child.
Couples who are planning to have children and know that they are at risk of having a child with sickle cell disease (SCD), may want to meet with a genetics counselor.
Treatment
Bone marrow transplant, also known as stem cell transplant, offers the only potential cure for sickle cell disease. It is usually reserved for people younger than age 16 because the risks increase for people older than 16. Finding a donor is difficult, and the procedure has serious risks, associated with it, including death.
In most cases of sickle cell disease, treatment is usually aimed at avoiding crises, relieving symptoms and preventing complications. Babies and children with sickle cell anemia should make frequent visits to a doctor for evaluation and management. In adults, close medical follow-up is also recommended. Treatments might include medications to reduce pain and prevent complications, blood transfusions, as well as a bone marrow transplant.
What are some symptoms of sickle cell disease?
Symptoms will vary from one individual to another. Some symptoms can occur at an early age in childhood but most children have few symptoms and lead normal lives most of the time.
The main symptoms of sickle cell disease are:
• painful episodes called sickle cell crises, which can be very severe and can last up to a week
• painful swelling of hands and feet
• vision problems
• an increased risk of serious infections
• anaemia, which can cause tiredness and shortness of breath
Some people also experience other problems such as delayed growth, strokes and lung problems
Complications of sickle cell disease?
Sickle cell anemia can lead to a host of complications, including:
• Stroke.
• Acute chest syndrome. This life-threatening complication causes chest pain, fever and difficulty breathing. Acute chest syndrome can be caused by a lung infection or by sickle cells blocking blood vessels in your lungs. It might require emergency medical treatment with antibiotics and other treatments.
• Pulmonary hypertension. People with sickle cell anemia can develop high blood pressure in their lungs (pulmonary hypertension).
• Organ damage. Sickle cells that block blood flow through blood vessels immediately deprive the affected organ of blood and oxygen.
• Blindness.
• Leg ulcers.
• Gallstones.
• Priapism. Men with sickle cell disease can have painful, long-lasting erections, a condition called priapism. As occurs in other parts of the body, sickle cells can block the blood vessels in the penis. This can damage the penis and lead to impotence.
The future
There is much research done relating to sickle cell disease. In many countries, including Anguilla, there are effective treatments that can reduce symptoms and prolong life. Early diagnosis and regular medical care to prevent complications have been shown to improve the well-being of individuals living with sickle cell disease. In Anguilla, the diagnosis of sickle cell disease is no longer a death sentence. Individuals with SCD are now living long and productive lives.
Conclusion
Sickle cell disease is an inherited blood cell disorder that occurs in many countries, including Anguilla. Many mediations are now available to help relieve symptoms of this disorder and prevent complications. Individuals with sickle cell disease should have regular medical check-ups, take appropriate medications and adopt healthy lifestyles. They can go on to have a long-life expectancy, despite the many challenges of this condition.
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 are 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).
