Sickle Cell Anaemia: The Importance Of Early Diagnosis

What is sickle cell disease?

Sickle cell disease is a genetic disorder which affects the production of haemoglobin, an oxygen-carrying protein found in red blood cells. It is caused by a mutation in the HBB gene, responsible for making the beta-globin subunit of haemoglobin. Those affected with sickle cell disease have crescent-shaped red blood cells, preventing adequate blood flow and causing pain and organ damage. This hereditary condition is typically seen more in those from African descent, though it can also affect people from Hispanic, Middle Eastern, and Mediterranean backgrounds. Unfortunately, sickle cell anaemia cannot be cured – however treatments including medication to lessen the frequency and severity of crises, blood transfusions to boost the number of healthy RBCs, and bone marrow transplantation to replace unhealthy marrow with normal producing cells are available.

Sickle cell disease around the world

Sickle cell disease is a global health issue, but it is most prevalent in sub-Saharan Africa, where it is estimated that up to 25% of the population carries the sickle cell gene. The disease is also common in countries in the Middle East, the Mediterranean, and parts of India, as well as among people of African descent living in the United States, the Caribbean, South America, and Europe. In the United States, sickle cell disease affects about 100,000 people, the majority of whom are African American.

What are the symptoms of sickle cell anaemia?

Symptoms of sickle cell anaemia, a type of sickle cell disease, may include:

  1. Fatigue: People with sickle cell anaemia may feel tired or weak due to a lack of oxygen-rich red blood cells.
  2. Pain: Pain is a common symptom of sickle cell anaemia, as the sickle-shaped red blood cells can block blood flow and cause pain in the bones, joints, and other parts of the body.
  3. Shortness of breath: A lack of oxygen-rich red blood cells can cause shortness of breath, especially during physical activity.
  4. Paleness: People with sickle cell anaemia may appear pale due to a lack of red blood cells.
  5. Frequent infections: People with sickle cell anaemia may be more susceptible to infections due to a lack of healthy white blood cells.
  6. Delayed growth: Children with sickle cell anaemia may have delayed growth and development due to a lack of nutrients and oxygen.
  7. Dactylitis: Dactylitis, also known as hand-foot syndrome, is a painful condition that can occur in people with sickle cell anaemia. It is characterized by swelling and redness in the hands and feet.
  8. Eye problems: People with sickle cell anaemia may be at increased risk of developing eye problems, such as cataracts and glaucoma.
  9. Stroke: Children and adults with sickle cell anaemia may be at increased risk of stroke due to blood flow problems in the brain.

How is sickle cell anaemia detected?

Sickle cell anaemia can be detected through a blood test called haemoglobin electrophoresis. This test separates the different types of haemoglobin in a blood sample and can identify the presence of abnormal haemoglobin, such as the type found in people with sickle cell anaemia.

Other tests that may be used to diagnose sickle cell anaemia include:

  1. Complete blood count (CBC): A CBC measures the number of red blood cells, white blood cells, and platelets in a blood sample.
  2. Blood smear: A blood smear is a sample of blood that is placed on a microscope slide and examined under a microscope. It can help identify the presence of abnormal red blood cells, such as those found in people with sickle cell anaemia.
  3. Sickle cell solubility test: This test measures how quickly red blood cells break down in a solution. In people with sickle cell anaemia, the red blood cells break down more slowly than normal.
  4. Genetic testing: Genetic testing can confirm a diagnosis of sickle cell anaemia by identifying the presence of the abnormal gene that causes the disease.

It is important to diagnose sickle cell anaemia as early as possible, as early treatment can help prevent complications and improve the quality of life for people with the disease.

How can we improve sickle cell disease management?

There are several ways to improve the management of sickle cell disease, including:

  1. Early diagnosis and treatment: Early diagnosis and treatment can help prevent complications and improve the quality of life for people with sickle cell disease.
  2. Regular medical care: Regular medical care, including regular check-ups and blood transfusions, can help manage the symptoms of sickle cell disease and prevent complications.
  3. Pain management: Proper pain management is important for people with sickle cell disease, as the disease can cause severe and recurrent pain. This may involve the use of over-the-counter pain medications, prescription pain medications, or other treatments such as physical therapy or acupuncture.
  4. Antibiotic prophylaxis: Children with sickle cell disease are at increased risk of bacterial infections, so they may be prescribed antibiotics to prevent infections.
  5. Folic acid supplementation: Folic acid supplements may be recommended to help reduce the frequency of painful crises in people with sickle cell disease.
  6. Hydroxyurea therapy: Hydroxyurea is a medication that has been shown to reduce the frequency of painful crises and the need for blood transfusions in people with sickle cell disease.
  7. Bone marrow transplant: A bone marrow transplant, also known as a stem cell transplant, can cure sickle cell disease, but it is a complex and risky procedure that is generally only recommended for certain people with the disease.
  8. Genetic counselling: Genetic counselling can help people with sickle cell disease and their families understand the inherited nature of the disease and the risks of having children with the disease.

Conclusion

In conclusion, sickle cell disease is a genetic disorder causing a range of complications such as pain, organ damage and infections. This condition mainly affects people of African ancestry, but may also occur in those with Hispanic, Middle Eastern or Mediterranean backgrounds. Currently there is no cure for this disease; however, treatment can help manage the symptoms and reduce potential risks. Those suffering from its associated condition, sickle cell anaemia, may experience fatigue, pain, shortness of breath, pallor, recurrent infections and even stroke. Diagnosis can be made through various tests like haemoglobin electrophoresis or complete blood count (CBC), a blood smear, a sickle cell solubility test or genetic screening. Moreover, it is crucial to receive early diagnosis and proper treatment to prevent serious health problems and improve the life quality for people with sickle cell disease.

 

 

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