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Our blood transports oxygen and nutrients to every single cell. Around half of the blood volume consists of cells - primarily red blood cells. These oxygen transporters use the red blood pigment hemoglobin. If our blood cells do not transport enough oxygen, the whole body suffers. Organs are undersupplied or even fail. Treatment methods are limited and often have side effects.

What is sickle cell disease?

Sickle cell disease or drepanocytosis is a hereditary disease of the red blood cells that affects a large number of families in Africa. Instead of the healthy blood pigment hemoglobin, those affected produce sickle cell hemoglobin (hemoglobin S). This causes the normally round blood cells to deform into sickle-shaped structures. This faulty version of the blood pigment cannot transport as much oxygen as the normal form. The sickle cells are stiff, sticky and can therefore block blood vessels throughout the body and prevent the blood flow to the vessels of organs from being supplied with oxygen. This can cause pain and organ damage or, in worse cases, can lead to organ failure. The life expectancy of patients with sickle cell disease is only 40-50 years, accompanied by severe pain attacks.

Hand of a 20-month-old infant with sickle cell disease.

How sickle cell disease is inherited

Children develop the disease if both parents have passed on a genetic trait for hemoglobin S. Even in babies in the third or fourth month, vessels that supply the bone marrow become blocked. A build-up of fluid forms, which presses on the periosteum from the inside and causes severe pain. The hands and feet swell and the children can no longer grip, walk or stand. Older children or adults experience severe pain in the bones of the arms and legs, the spine and the pelvis. If the altered gene is passed on by only one parent, this usually does not lead to symptoms of the disease or only rarely.

The life-threatening complications

Brain damage (stroke)

One in ten children with sickle cell disease suffers at least one stroke before the age of 18.

Pneumonia

There is a risk that the oxygen content in the arterial blood is low.

Spleen failure

The spleen, which normally removes pathogens from the blood, is severely damaged. By the end of the first year of life, some children no longer have a spleen function and serious bacterial infections can spread rapidly. The risk of this type of blood poisoning is around 800 times higher than in healthy children and can be fatal within hours.

Does this disease only affect dark-skinned people?

The disease is most common in Africa, but due to centuries of migration it is now also found in the Middle East and the eastern Mediterranean. Turkish, Greek or Italian sickle cell patients usually have light skin, even if they can still be genetically identified as having West African ancestors from the area of ​​present-day Benin.

What treatment options are available?

Fluid supply
Infusion
Blood transfusion

If acute pain occurs due to vascular blockages, the treatment consists of administering fluids - ideally by drinking plenty of fluids as instructed by medical staff, and if necessary by infusions. In some cases, blood transfusions may also be necessary in an acute situation to replace sickle cells with healthy red blood cells and thereby improve the oxygen supply.

Painkiller

Paracetamol, metamizole sodium or ibuprofen are pain-relieving and antipyretic drugs.

Prevention of pain and other complications of sickle cell disease

Litalir or hydroxyurea inhibits the growth of cells and is used to treat blood diseases.

"The only cure at the moment is a bone marrow transplant"

The bone marrow

In adults, blood stem cells are mainly found in the bone marrow. Red and white blood cells, immune cells and platelets can develop from a stem cell. The stem cells can be easily isolated and preserved by freezing. Thawed stem cells find their way to the bone marrow after being infused into the bloodstream. There they grow and can replace a person's entire system of blood cells within a reasonable period of time.

Risks of treatment

Acute and sometimes severe allergic reactions can occur. The patient must therefore be closely monitored. Medication is available in case of an emergency. Certain medications help to prevent incidents. During the infusion of the stem cells, a doctor monitors the cardiovascular system.