Sickle Cell and Thalassaemia Ireland (SCTI)

Blood Disorders

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Sickle cell disease

Sickle Cell Disease is caused by a mutation in the gene that tells the body how to make hemoglobin. This leads to the production of abnormal hemoglobin known as hemoglobin S. Red blood cells containing this type of hemoglobin become rigid and shaped like a crescent or “sickle,” rather than the normal round, flexible shape.

These sickle-shaped cells can:

Block blood flow in small vessels
Cause pain episodes (called “sickle cell crises”)
Lead to complications such as anemia, infections, stroke, and organ damage

Thalassaemia

Thalassemia is a group of inherited blood disorders caused by mutations in the genes responsible for hemoglobin production. People with thalassemia produce either less hemoglobin than normal or abnormal forms of it, leading to chronic anemia.

There are two main types:

Alpha Thalassemia – caused by problems in alpha-globin gene production
Beta Thalassemia – caused by mutations in the beta-globin genes

Depending on the severity, symptoms can range from mild fatigue to severe anemia requiring regular blood transfusions and other treatments.

SCTI Information Resources