What Is the Main Idea?
The authors of the open-access review article “Sickle Cell Disease”, published in the journal Transfusion Medicine and Hemotherapy, aimed to highlight the need to find better treatment options and treatment access for people with sickle cell disease.
What Else Can You Learn?
Access to treatment for sickle cell disease depends on where you live in the world. You can therefore become more aware of how structural racism affects the treatment of people with genetic diseases.
Take-Home Message
Sickle cell disease is a devastating blood disorder that is inherited. Very few people can be cured and most people need ongoing treatment throughout their life. Sickle cell disease affects many parts of the body, causing pain, infections, poor quality of life, and shorter life expectancy. Although it is possible to cure, many patients do not have access to these expensive treatments because of where they live.
What Is Sickle Cell Disease?
Sickle cell disease is a problem with blood cells. Various blood cell problems are grouped under the term sickle cell disease, but what these problems have in common is that they share a variant (genetic change) in a gene called β-globin. This variant results in an abnormality in hemoglobin, which is found in blood cells.
What Is Hemoglobin?
Hemoglobin is a protein found in our red blood cells. It carries oxygen in our blood. When there is a variant in the β-globin gene, this results in sickle cell hemoglobin. Sickle cell hemoglobin affects the red blood cells, changing how they work. Part of this change is that the usually round and soft cells become stiff and sickle-shaped (which is where the disease gets its name from). These changes affect blood flow throughout the body, causing blocks and damage to body organs. The changes also mean that the red blood cells do not “work” like healthy cells, and do not survive as long, leading to anemia.
What Is Anemia?
Anemia is when there are not enough healthy red blood cells to carry oxygen around the body. It results in tiredness, weakness and shortness of breath. There are many types and causes of anemia, some more serious than others.
Can I Catch Sickle Cell Disease?
Sickle cell disease is an inherited disease and cannot be “caught”. It is passed from parents to their child and is inherited recessively. This means that both parents must have the gene variant, and that the child must “receive” both of these from each parent to be affected. If the child receives only one variant from one parent, then they do not have sickle cell disease. However, this means that, like their parents, they will be a “carrier” and could pass it to their own children.
How Did Sickle Cell Disease Start?
It is thought that the genetic mutation happened thousands of years ago in areas of the world now known as Africa, India, and the Middle East. It has been passed in humans across the world through events such as the 17th century slave trade between Africa and the Americas, and 19th and 20th century migration to Europe. Due to this history, in Europe, the number of people with sickle cell disease is increasing. It is the highest in the UK and France.
How Many People Have Sickle Cell Disease?
The authors report that it is thought that worldwide, in 2010, around 312,000 children were born with sickle cell disease. Unfortunately, many of these children do not survive childhood, due to lack of access to best medical care. The rate of people who carry sickle cell disease is also increasing – about 5.5 million carriers of sickle cell disease are being born each year.
What Is It Like to Live with Sickle Cell Disease?
People with sickle cell disease can be very unwell. The disease causes severe pain in the joints and problems with other body organs such as the heart, kidneys, spleen and blood vessels. It can lead to dangerous infections and also causes anemia. The authors report that sickle cell disease causes so many health problems, that it affects a person’s quality of life as much as cancer would. Without good medical care, many people die early. In African countries, where most children with sickle cell disease are born, sadly just over 1 in 3 die before they are aged 5, because they do not have access to medical care. For people that reach adulthood, chronic pain, infection risks, and complications with body organs continue.
How Is Sickle Cell Disease Diagnosed?
Sickle cell disease can be diagnosed with genetic blood tests. This can even take place on an unborn baby. Other blood tests can also be taken after a baby is born. The World Health Organization recommends that all newborn babies are tested for sickle cell disease so that treatment can be started as soon as needed. In under-developed countries, however, this testing does not always happen.
How Is Sickle Cell Disease Treated?
Treatment is partly about preventing complications. For example, when a baby is diagnosed with sickle cell disease, they can receive daily medication to reduce the chance of a life-threatening infection. Their parents/caregivers are also taught how to monitor the baby’s spleen by gently pressing it with the fingers to feel for lumps (palpation). The spleen is an organ that sits above the stomach, just under the ribcage. For people with sickle cell disease, there is a big risk that the spleen can develop problems. Regular checks can help identify a problem early. Also, when a baby reaches toddler age, they will have their blood flow regularly measured (using ultrasound).
There are also some medications available. These can improve the symptoms of anemia, help prevent organ damage, and help prevent the blood problems that cause pain. In Europe, the two drugs used are hydroxyurea and voxelotor. Blood transfusions are also often used; however, these have risks such as bad reactions.
Can Sickle Cell Disease Be Cured?
There are two treatment possibilities to cure sickle cell disease:
- Allogeneic stem cell transplantation is when a brother or sister can donate their cells to replace the unhealthy cells. This works very well for young children.
- Gene therapy is a very new treatment, approved in the USA in December 2023 and in Europe in February 2024. It works similarly to allogeneic stem cell transplantation but uses healthy fetal hemoglobin.
Unfortunately, these are only available in high-income countries. Since most people with sickle cell disease live in countries with low-to-middle income, these treatments are only available to a small number of people.
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