World Sickle Cell Day

Let try this again. When I smile at you, you smile back. Okay? – T.A. (2008 – 2020)

Sickle cell disease, is an inherited blood disorder – more precisely, a condition of hemoglobin chain synthesis – that affects almost all organs.

The blood smear characterizes it by sickle-shaped red blood cells (erythrocytes). Erythrocytes transport oxygen from the lungs to all areas of the body. The oxygen in the erythrocytes is bound to the hemoglobin, the red blood pigment.

People with sickle cell disease do not have normal hemoglobin, hemoglobin A (HbA), but an altered red blood pigment called hemoglobin S (HbS). This changed hemoglobin turns the round, smooth, and well-moving erythrocytes into pointed, hard, and elongated cells that look like sickles and are therefore called sickle cells.

Sickle cell disease is a chronic, lifelong illness. Depending on the severity, the severity of the illness can range from asymptomatic to life-threatening, with life expectancy being shortened by an average of 20 years compared to healthy people.

According to an estimate by the WHO, 275,000 children with sickle cell disease are born worldwide every year. Although the disease mostly occurs in people of African descent, it is also found in the Mediterranean, the Middle East, India, the Caribbean, and South, and Central America. In Africa and India, up to 30% of people are affected. The disease is recognized by the WHO as a global health problem.

Causes
Sickle cell disease arises from a genetic mutation in the gene responsible for the production of part of the hemoglobin (the beta subunit). This mutation leads to the reduced solubility of the hemoglobin, clumping, and deforming the red blood cells.

The genetic change is inheritable, and if it is inherited from both the father and mother, it leads to sickle cell disease, also known as HbSS. Only the changed hemoglobin is found in the blood, making the erythrocytes long and pointed, i.e., sickle-shaped.

In addition to this mutation, there are other mutations in the hemoglobin gene that can correspondingly change the red blood pigment.

Symptoms
Sickle cell gene carriers have no symptoms. On the other hand, people who have both copies of the gene, one from each parent usually experience the consequences of this chronic disease for life.

The changed shape of the erythrocytes leads to blockage of the blood vessels, which in turn leads to a reduced blood supply to vital organs (infarctions in different organs) and a weakened immune system (due to a loss of spleen function).

The resulting symptoms and complications include:

1. Chronic anemia (chronic hemolytic anemia)
2. Acute pain crises (can affect all bones)
3. Headache, dizziness
4. Stroke already in childhood
5. Visual disturbances, blindness
6. Shortness of breath, chest pain, pulmonary hypertension
7. Jaundice
8. Gallstones
9. Hip necrosis
10. Chronic joint pain, damage to bones and joints
11. Enlarged spleen, recurrent infections
12. Painful swelling of the hands and feet
13. Chronic kidney failure

Developing countries are particularly affected by the sometimes life-threatening effects of sickle cell disease. But even in countries where there is a sound health system, many patients do not adhere to their ttreatment plan, which can lead to severe complications.

Diagnosis
In most developed countries, sickle cell disease in newborns at increased risk, for example, due to parentage, is diagnosed using genetic tests and so-called newborn screenings.

A hemoglobin analysis must be carried out to make the diagnosis if someone comes from a region in which sickle cell disease occurs and has anemia and frequent bone pain of unclear cause. A blood test can be used to determine whether you are a carrier of the sickle cell gene.

Treatment

Sickle cell disease is a disease that accompanies sufferers throughout their lives. It can only be cured by a bone marrow transplant, which is only carried out in rare cases due to the possible risks and the lack of donors.

Medical care includes penicillin prophylaxis (which must be taken daily by all patients at least in childhood), long-term treatment with hydroxyurea, professional treatment of acute problems, and regular preventive examinations in specialized centers.

Pain relievers and antibiotics
In particular, children are given preventive treatment by giving antibiotics such as penicillin and appropriate vaccinations against infections, such as pneumococci.

Since patients with sickle cell disease often have to deal with episodes of pain, the use of painkillers is often necessary. It may also be essential to administer morphine if the pain is very severe.

Blood transfusions
One way to treat sickle cell disease is to have regular blood transfusions. This increases the number of normal erythrocytes, helps to restore normal blood flow, and reduces the occurrence of serious complications such as a stroke.

A problem with this form of treatment is the risk of possible iron overload: The additional iron that enters the patient’s blood through the transfusions accumulates in the body because it has no mechanism to break down excess iron.

As a result, chronic iron overload can occur. This happens when the iron stores are overcrowded. That is why regular checks are essential to diagnose possible iron overload.

Cytostatics
A cytostatic is an agent that inhibits cell growth. Cytostatics are mainly used to treat cancer as part of chemotherapy. An active ingredient that falls into this category is hydroxycarbamide, also called hydroxyurea or hydroxyurea.

Hydroxycarbamide changes the composition of the red blood pigment hemoglobin and also affects the erythrocytes. It prevents blood vessels from becoming blocked.

In the meantime, there is experience with the long-term administration of this drug from preschool age.

What else can affected people do?
If the affected person knows that he has sickle cell disease, it is crucial to adhere to the prescribed therapy plan; otherwise, severe and often life-threatening complications can occur.

If new symptoms appear, you should see a doctor as soon as possible. It is, of course, possible to have children despite sickle cell disease. However, those affected should use a hemoglobin analysis to determine whether the partner is possibly the carrier of the disease.

Women with sickle cell disease often experience more pain crises or other complications during pregnancy and should, therefore, be carefully monitored.

This blog post is dedicated to T.A.(2008 – 2020) – Rest In Peace Little Angel.

Support

You can support The Sickle Cell Society by making a monthly or one-off donation.

The Sickle Cell Society exists to support those living with sickle cell to reach their full potential and they rely on your kind support to make that happen.