Sickle Cell Anemia

Sickle Cell Anemia

Overview of Sickle Cell Anemia

  1. dividuals more susceptible to infections
  2. Delayed growth and development: The body may prioritize fighting infections and managing anemia over growth and development
  3. Vision problems: The blood vessels in the eyes may become blocked or damaged, leading to vision issues


Diagnosis of sickle cell anemia usually occurs during infancy through newborn screening programs. Blood tests, such as the hemoglobin electrophoresis test, can detect the presence of abnormal hemoglobin. In some cases, prenatal testing may be performed to determine if a baby has the disorder before birth.Sickle cell anemia is an inherited blood disorder that affects the shape and function of red blood cells. Normal red blood cells are round and flexible, allowing them to move smoothly through blood vessels. However, in sickle cell anemia, red blood cells become crescent-shaped and rigid, leading to various health complications. This disorder is more prevalent in individuals of African, Mediterranean, Middle Eastern, and South Asian descent.


Sickle cell anemia is caused by a genetic mutation in the “HBB gene” responsible for producing hemoglobin, a protein in red blood cells that carries oxygen throughout the body. This mutation leads to the production of abnormal hemoglobin called hemoglobin S (HbS), which causes red blood cells to take on a sickle shape. The disorder is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disease.


Symptoms of sickle cell anemia can vary in severity and may include:

  1. Anemia: Fatigue, weakness, and pallor due to a shortage of red blood cells
  2. Pain crises: Sudden episodes of severe pain caused by sickle-shaped red blood cells blocking blood flow in small vessels
  3. Swelling in hands and feet: Resulting from blocked blood flow in the extremities
  4. Frequent infections: The spleen, an organ that helps fight infections, may be damaged by sickled cells, leaving in


Generally treatments aim to manage symptoms, prevent complications, and improve patients’ quality of life. Treatment options may include:

  1. Pain management: Over-the-counter pain relievers or prescription medications may be used to manage pain crises
  2. Hydroxyurea: A medication that can reduce the frequency of pain crises and lower the need for blood transfusions
  3. Blood transfusions: Used to treat or prevent severe anemia, reduce the risk of stroke, or manage acute chest syndrome (a lung-related complication)
  4. Vaccinations and antibiotics: To prevent and treat infections
  5. Supplemental oxygen: In cases of low blood oxygen levels due to respiratory issues

Role of Bone Marrow Transplantation

Bone marrow transplantation (BMT) is a potentially curative treatment for sickle cell anemia, as it replaces the patient’s defective bone marrow with healthy bone marrow from a compatible donor. This procedure allows the patient’s body to produce normal red blood cells, alleviating the symptoms of the disease.

However, BMT carries inherent risks, including graft-versus-host disease (GVHD) and complications related to the conditioning regimen, such as infections or organ damage. The success of a bone marrow transplant depends on finding a suitable donor, often a sibling or an unrelated matched donor. BMT is usually considered for patients with severe sickle cell anemia or those experiencing significant complications.

In conclusion, sickle cell anemia is a complex inherited blood disorder that requires ongoing care and management. While bone marrow transplantation offers a potential cure, its risks and challenges necessitate a careful evaluation by a healthcare

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