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Introduction to Sickle cell disease

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Introduction to Sickle Cell Disease

Introduction to Sickle Cell Disease

What is Sickle Cell Disease?

Sickle Cell Disease (SCD) is a group of inherited health conditions that affect the red blood cells. The abnormal red blood cells have a crescent or 'sickle' shape, unlike the typical disc shape. This change in shape can cause blockages in blood flow, leading to serious health issues. Sickle Cell Disease is a lifelong condition that significantly impacts a person’s quality of life.

Prevalence in the United Kingdom

In the United Kingdom, SCD is notably more common among people of African or Caribbean descent. An estimated 15,000 people in the UK are affected by Sickle Cell Disease, making it the nation’s most common genetic blood disorder. Awareness and education about the disease are crucial for early diagnosis and effective management.

Symptoms and Complications

The symptoms and complications of SCD can vary in severity. Common symptoms include episodes of pain called sickle cell crises, fatigue, and anemia. Complications may range from increased risk of infections to stroke, and organ damage. Early diagnosis through newborn screening programs helps in better managing the condition.

Treatment and Management

Although there is no universal cure for Sickle Cell Disease, various treatments can help manage and alleviate symptoms. Options include pain relief during crises, blood transfusions, and medications such as hydroxyurea. Bone marrow and stem cell transplants can potentially cure the condition but carry significant risks and are not suitable for everyone.

Living with Sickle Cell Disease

Living with SCD requires ongoing medical care and lifestyle adjustments. Regular health check-ups, a balanced diet, staying hydrated, and avoiding extreme temperatures are crucial for managing the condition. Support from healthcare professionals, family, and patient support groups can play a vital role in improving the quality of life for those affected by SCD.

Frequently Asked Questions

What is 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.

How is sickle cell disease inherited?

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.

What are the symptoms of sickle cell 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.

How is sickle cell disease diagnosed?

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.

What are the complications of sickle cell disease?

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

How is sickle cell disease treated?

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.

Can sickle cell disease be cured?

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.

What lifestyle changes can help manage sickle cell disease?

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

What is the life expectancy for someone with 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.

Is there a difference between sickle cell disease and sickle cell trait?

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.

How common is sickle cell disease in the United Kingdom?

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.

What is a sickle cell crisis?

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.

Are there any support groups for individuals with sickle cell disease in the UK?

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

Can sickle cell disease affect pregnancy?

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

Is newborn screening for sickle cell disease mandatory in the UK?

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

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