Introduction to Sickle cell disease

Sickle cell disease (SCD) is a genetic blood disorder that affects the shape of red blood cells, causing them to become rigid and form a crescent or 'sickle' shape, which can lead to various health complications.

Sickle cell disease is inherited in an autosomal recessive pattern, meaning a child must inherit two sickle cell genes, one from each parent. If one parent has sickle cell trait (one sickle cell gene), the child may inherit the trait but not the disease.

Common symptoms of sickle cell disease include episodes of pain (known as sickle cell crises), fatigue, jaundice, swelling in the hands and feet, and frequent infections.

Sickle cell disease is typically diagnosed through a blood test. In the United Kingdom, newborns are routinely screened for SCD as part of the Newborn Blood Spot Screening Programme.

Complications can include severe pain, anemia, infections, stroke, organ damage, acute chest syndrome, and vision problems.

Treatment may include pain management, blood transfusions, medications like hydroxyurea, and sometimes bone marrow or stem cell transplants. Management of SCD also involves regular medical checkups and vaccinations.

The only potential cure for sickle cell disease is a bone marrow or stem cell transplant, but it is not an option for everyone due to the associated risks and the difficulty of finding a suitable donor.

Staying hydrated, avoiding extreme temperatures, maintaining a healthy diet, managing stress, and avoiding high-altitude areas can help manage sickle cell disease.

With proper management and medical care, individuals with sickle cell disease can live into their 40s, 50s, or beyond, although life expectancy varies widely.

Yes, sickle cell trait means carrying one sickle cell gene and one normal gene, typically without symptoms, while sickle cell disease means having two sickle cell genes, leading to significant health issues.

Sickle cell disease is the most common genetic disorder in the UK, with over 15,000 people affected and a high prevalence in individuals of African or Caribbean descent.

A sickle cell crisis is a pain episode caused by blocked blood flow due to sickle-shaped cells clumping together. It can cause severe pain and require medical treatment.

Yes, organisations such as the Sickle Cell Society provide resources, support, and advocacy for people affected by sickle cell disease in the United Kingdom.

Yes, women with sickle cell disease can have high-risk pregnancies and may face complications like preterm labour and infection, requiring special medical care.

Yes, all newborns in the UK are offered screening for sickle cell disease as part of the NHS Newborn Blood Spot Screening Programme.