Sickle cell disease occurs in several Caribbean countries includingAnguilla. Sickle cell disease (SCD) is a genetic disorder and is common inindividuals of African descent, but can occur in other races. Many years ago, persons with sickle cell disease would have several complications and an early death. Fortunately, with improved care and treatment many individuals with sickle cell disease can live to beyond fifty years.
What is sickle cell disease?
Sickle cell disease is a group of disorders that affects haemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical haemoglobin molecules called haemoglobin S which can distort red blood cells into a sickle, or crescent, shape. Sickle cell anaemia is the most common form of sickle cell disease in many countries. Sickle cell trait is also very common inAnguillabut sickle-haemoglobin C (HbSC) disease is not so common. Sickle cell disease is not contagious.
Who gets sickle cell disease?
Sickle cell disease affects millions of people worldwide. It is most common among people whose ancestors come from Africa; Mediterranean countries such asGreece,TurkeyandItaly; the Arabian Peninsula;India; and Spanish-speaking regions in South America, Central America and parts of theCaribbean.
How do people inherit sickle cell disease?
This condition is inherited in an autosomal recessive pattern which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition, each carries one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. To clarify, an individual who has sickle cell disease – both parents must have defective genes and pass it to their offspring. Individuals with sickle cell trait often do not have symptoms under normal conditions. Sickle cell disease is not infectious. Sickle cell disease can neither be contracted nor passed on to another person by touching them etc. It is an inherited disorder.
What are the signs and symptoms of sickle cell disease?
The severity of sickle cell disease varies tremendously. Some people with sickle cell disease lead lives that are nearly normal. Others are less fortunate, and can suffer from a variety of complications. Signs and symptoms of sickle cell disease usually begin in early childhood. Characteristic features of this disorder include a low number of red blood cells (anaemia), repeated infections and periodic episodes of pain. The severity of symptoms varies from person to person. Some people have mild symptoms, while others are frequently hospitalized for more serious complications.
The signs and symptoms of sickle cell disease are caused by the sickling of red blood cells. When red blood cells sickle, they break down prematurely, which can lead to anaemia. Anaemia can cause shortness of breath, fatigue and delayed growth and development in children. The rapid breakdown of red blood cells may also cause yellowing of the eyes and skin, which are signs of jaundice. Painful episodes can occur when sickled red blood cells, which are stiff and inflexible, get stuck in small blood vessels. These episodes deprive tissues and organs of oxygen-rich blood and can lead to organ damage especially in the lungs, kidneys, spleen and brain. A particularly serious complication of sickle cell disease is high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Pulmonary hypertension occurs in about one-third of adults with sickle cell disease and can lead to heart failure.
Sickle cell disease can also cause permanent damage to the brain, heart, kidneys, liver, spleen and bones. The severity and symptoms vary greatly from person to person, even within the same family.
What is Sickle cell crisis?
Individuals with sickle cell disease can develop a sickle cell crisis. This refers to a number of signs and symptoms that can suddenly develop and, if not correctly treated, can have serious consequences.Symptoms of sickle cell crisis include the following:
• Severe pain
• Anaemia
• Chest pain and difficulty breathing
• Strokes
• Joint pain and arthritis
• Blockage of blood flow in the spleen or liver
• Severe infections
Are There Tests That Can Tell Me Whether I Have Sickle Cell Disease?
The answer is yes. Most people with sickle cell trait have normal routine blood counts. Only a special test, called a “haemoglobin electrophoresis,” indicates reliably whether a person has sickle trait or sickle cell disease. In addition, the haemoglobin electrophoresis will detect haemoglobin C and b-thalassemia in adults.
Sickle-shaped red blood cells can be seen when a blood sample is examined under a microscope, but this is not diagnostic.
Treatment of sickle cell crisis
The management of sickle cell patients must be carried out by professionals who are knowlegeable about this disorder. Treatment will vary from one individual to another, but key to management are pain control, maintaining good hydration, stabilisation of vital signs and prevention of complications. Stem cell transplant is the only curative treatment for sickle cell disease at this time.
Various treatment options have resulted in patients with this disorder living longer and having a better quality of life. Prior to 1970, many people with sickle cell disease did not live longer than the age of 20, but now many patients with sickle cell disease live beyond the age of 60. Improved housing, improved socio-economic status of patients, as well as improved health care, have all led to this improved survival rates. Patient education about the disease is also important in the management of the genetic disorder.
Many researchers are working on developing new forms of medications for treating patients with sickle cell disease. Some of these new treatments are already being tested in patients and the future looks promising.
Complications of sickle cell disease
Complications of sickle cell disease will vary tremendously from one individual to another. The following are some common complications that might develop in individuals with the disease:
• Hand-Foot Syndrome
• Pain Episode
• Anaemia
• Infection
• Acute Chest Syndrome
• Splenic Sequestration
• Vision Loss
• Leg Ulcers
Conclusion
Sickle cell disease affects some Anguillian families. Sickle cell disease is an inherited condition. Two genes for the sickle haemoglobin must be inherited from one’s parents in order to have the disease. A person who receives a gene for sickle cell disease from one parent, and a normal gene from the other, has a condition called “sickle cell trait.” Sickle cell trait produces no symptoms or problems for most people. An individual with sickle cell disease may have a variety of signs and symptoms, and the severity of these might vary tremendously. Treatment options are now available for individuals with sickle cell disease. The disease can have severe complications, but with improved care many individuals can live productive and healthy lives.
Ask Your Doctor is a health education column and is not a substitute for medical advice from your physician. Dr Brett Hodge is an Obstetrician/Gynaecologist and Family Doctor who has over twenty eight years in clinical practice. Dr Hodge has a medical practice in theJohnsonBuildingin The Valley.
