Understand sickle cell

A condition where there aren’t enough healthy red blood cells to carry adequate oxygen throughout the body, leading to fatigue, weakness, and pale skin. In sickle cell disease, anemia is due to the rapid breakdown of misshaped red blood cells that don’t live as long as normal cells.

A treatment that can potentially cure sickle cell disease by replacing the diseased bone marrow with healthy marrow from a donor. However, BMT is complex, costly, and best for young patients with a matched sibling donor. Advances in transplant techniques are making this option safer and more widely available.

A sudden episode of severe pain caused by the blockage of blood vessels by sickle-shaped cells. Painful crises vary in frequency and intensity, can last hours or days, and require medication and hydration for relief. Preventative treatments, such as hydroxyurea and L-glutamine, can reduce the frequency of crises.

An advanced genetic engineering tool used to edit DNA sequences, including the genes that cause sickle cell disease. Clinical trials are exploring CRISPR as a potential cure by modifying blood stem cells to produce normal hemoglobin. This treatment could offer a permanent cure but is still experimental.

Extreme tiredness experienced by people with sickle cell, often due to chronic anemia. Management strategies include staying hydrated, pacing activities, and getting enough sleep.

A treatment under research where a patient’s own stem cells are modified to correct or bypass the sickle cell mutation. Unlike a bone marrow transplant, gene therapy doesn’t require a donor and could potentially cure sickle cell in more patients.

A service that provides information and support to families with a history of sickle cell disease. Genetic counsellors explain inheritance patterns, the risks of passing on sickle cell, and options for family planning.

The specific genetic makeup that determines whether someone has sickle cell disease or just carries the trait. For instance, SS genotype means the person has sickle cell disease, while AS means they carry the trait but do not have the disease.

A protein in red blood cells that binds and carries oxygen to tissues. Sickle cell disease is caused by an abnormal type of hemoglobin (hemoglobin S), which forms rigid, sickle-shaped cells that can block blood flow.

An FDA-approved medication that reduces the frequency and severity of pain episodes and the need for blood transfusions. Hydroxyurea works by increasing fetal hemoglobin, which prevents red blood cells from sickling. Recent studies show that it can benefit even very young children.

Sickle cell disease is inherited in an autosomal recessive pattern. This means both parents must carry the sickle cell trait (*AS*) for a child to have a chance of inheriting the disease (*SS* genotype). Genetic counselling can help families understand these patterns and options.

Yellowing of the skin and eyes, often seen in people with sickle cell, caused by the buildup of bilirubin from the breakdown of red blood cells. Severe jaundice may require medical treatment to prevent complications.

An FDA-approved supplement for sickle cell that helps reduce pain crises by improving cell hydration and reducing oxidative stress on red blood cells. It is one of the few newer treatments available.

A change in a gene that can cause a disease. Sickle cell disease is caused by a mutation in the hemoglobin gene, leading to the production of abnormal hemoglobin S. This mutation originated as a defence against malaria.

An herbal-based drug developed in Nigeria shown to help reduce pain crises in sickle cell patients. Though not widely available, it offers a potential low-cost treatment option for developing countries.

The blockage of blood vessels by sickle-shaped red blood cells, causing pain and potentially damaging organs. This is a key contributor to sickle cell complications.

Long-term sickle cell disease can lead to damage in organs like the liver, kidneys, heart, and lungs due to restricted blood flow. Monitoring and preventative treatments can reduce this risk.

The essential gas that red blood cells carry to tissues. Sickle cells deliver less oxygen due to their shape, which can worsen symptoms and cause complications like hypoxia. Oxygen therapy may be used in hospitals for sickle cell patients in crisis.

Cells that carry oxygen throughout the body. In sickle cell disease, these cells are stiff and sickle-shaped, causing blood flow blockages. This leads to pain and damage to tissues and organs over time.

Testing for sickle cell disease or trait, often done at birth or before pregnancy, to understand genetic risk. Prenatal and newborn screenings are standard in many countries, helping families plan and manage the disease from an early stage.

An organ that helps filter blood and fight infection. In sickle cell patients, the spleen is often damaged from the destruction of red blood cells, which increases infection risk. Some people may require vaccinations or antibiotics to prevent infections.

A serious complication of sickle cell disease caused by blocked blood flow to the brain. Regular screenings and preventative treatments, like blood transfusions, can help reduce stroke risk in children with sickle cell.

A procedure where blood from a donor is given to a sickle cell patient to increase the number of healthy red blood cells. Transfusions are commonly used to manage severe anemia, prevent strokes, and treat crises.

A newer FDA-approved drug that helps red blood cells retain their round shape, reducing the risk of occlusions and anemia. Voxelotor improves oxygen levels and quality of life in people with sickle cell.