About the Sickle Cell and Haemoglobin Electrophoresis Blood Test
Sickle cell disease (SCD), also known as sickle cell anemia, is a genetic disorder that affects the red blood cells in the body. It is an inherited condition caused by a mutation in the HBB gene, which encodes a protein called hemoglobin. Hemoglobin is responsible for carrying oxygen from the lungs to the rest of the body's tissues. In individuals with sickle cell disease, a specific mutation causes the hemoglobin to form abnormal, rigid, and crescent-shaped red blood cells instead of the normal, flexible, round ones.
These abnormal red blood cells are less efficient at carrying oxygen, and they can easily become stuck in small blood vessels, leading to a range of health problems. Some of the key characteristics and complications of sickle cell disease include:
- Pain Crises: People with SCD often experience episodes of severe pain, called pain crises, which can occur anywhere in the body. These crises are the result of blocked blood flow and tissue damage due to the misshapen red blood cells.
- Anemia: SCD can lead to chronic anemia, which causes fatigue, weakness, and pale skin due to a reduced number of healthy red blood cells.
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Organ Damage: The blockage of blood vessels by sickle cells can cause damage to various organs, including the spleen, liver, lungs, and kidneys. Over time, this damage can lead to complications such as stroke, acute chest syndrome, and kidney problems.
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Infections: Individuals with SCD are more susceptible to infections because their spleen may not function properly, making it harder for the body to fight off certain infections.
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Delayed Growth: SCD can affect the growth and development of children.
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Hand-Foot Syndrome: This condition causes painful swelling of the hands and feet, often occurring in infants with SCD.
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Vision Problems: The abnormal blood flow can damage the blood vessels in the eyes, leading to vision problems.
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Priapism: Men with SCD may experience prolonged, painful erections due to blocked blood vessels in the penis.
- Gallstones: Sickle cell disease increases the risk of developing gallstones, which can cause abdominal pain.
Treatment for sickle cell disease focuses on managing symptoms and preventing complications. This may include pain management, blood transfusions, medication (such as hydroxyurea), and, in severe cases, bone marrow or stem cell transplantation. Early diagnosis and regular medical care are crucial for individuals with SCD to lead healthier lives and manage their condition effectively.
23 Biomarkers
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FULL BLOOD COUNT
- White Blood Cell Count (WBC)
- Red Blood Cell Count (RBC)
- Haemoglobin (HGB)
- Hematocrit (HCT)
- Mean Corpuscular Volume (MCV)
- Mean Corpuscular Haemoglobin (MCH)
- Mean Corpuscular Haemoglobin Concentration (MCHC)
- Red Cell Distribution Width (RDW)
- Platelets* (PLT)
- Mean Platelet Volume* (MPV)
- Lymphocytes* (LYM)
- Monocytes* (MON)
- Neutrophils* (NEU)
- Eosinophils* (EOS)
- Basophils* (BAS) -
EXCLUSIONS *
Markers with *symbol are not reported in Capillary/Home kit samples.
Platelets (PLT) - may not be reported in capillary samples if clots are present.
We always recommend a venous clinic sample for this test.
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SICKLE CELL AND HAEMOGLOBIN ELECTROPHORESIS MARKERS
- Haemoglobin A0
- Haemoglobin A2
- Haemoglobin Phenotype
- Sickle Solubility Test