Sickle Cell Anemia: Everything You Need To Know

Sickle cell anemia is a hereditary congenital disease. In the most severe cases, it can cause as much pain as childbirth.

Sickle cell anemia is an inherited disorder of the red blood cells. The red blood cells of those who suffer from this disease have an abnormal hemoglobin, the so-called sickle hemoglobin, which affects the correct performance of their function.

Remember that hemoglobin is the protein that carries oxygen, which is transported to all the cells of the body thanks to the mobility of red blood cells through blood vessels. Taking into account that tissues need a constant supply of oxygen in order to function properly, if oxygen is not transported properly, in the long term it can cause serious damage to the body.

Sickle cell anemia accompanies the individual who suffers from it throughout their life. Also, its level of severity varies from person to person, and depends on how severe the hemoglobin defect is. Until just about five decades ago, the life expectancy of a person with this disease was only 14 years. Currently, in developed countries, life expectancy  has increased to 40-60 years.

Genetics and sickle cell anemia

Sickle cell anemia is due to a genetic defect. It is a recessive disease, that is, we have to receive the defective gene from both our mother and our father. This makes a special type of hemoglobin, called occurring hemoglobin S . In the case of sickle cell anemia, we speak of hemoglobin SS.

When someone inherits a single defective gene from one parent, their hemoglobin is said to have sickle-shaped traits. They rarely have problems similar to those with sickle cell disease. However, they are carriers of a genetic defect.

If your partner is also a carrier and they decide to have a child, there is a high probability that the child will inherit the disease. Anyone can tell if their hemoglobin is type S with a simple blood test.

When both parents have a normal and a defective hemoglobin gene,  the chances that the child will inherit one or the other gene are as follows:

• 25% of inheriting the two normal genes.
• A 50% chance of inheriting both genes.
• 25% of inheriting the two abnormal genes and, consequently, developing the disease.

Symptoms of sickle cell anemia

Sickle cell anemia is present from birth, that is, it is a congenital disease. However, most newborns do not have any symptoms. These begin to appear from 5 or 6 months of age. There are also cases when the manifestations of the disease appear much later.

The early symptoms are as follows:

• Dactylitis , that is, inflammation of the hands and feet, usually accompanied by pain.
• Malaise and exhaustion. It is one of the direct effects of any type of anemia.
• Jaundice, that is, yellowing of the skin and the whites of the eyes due to a deficiency in hemoglobin or, in this case, to defects in its structure.

Sickle cell anemia causes severe pain crises. Some experts argue that the level of this pain is higher than that experienced after surgery or childbirth. It usually appears on the arms, legs, chest, lower back, or abdomen. Although some patients develop chronic pain that is difficult to manage,  in most cases the episodes of pain are triggered by various factors:

• Stress.
• Dehydration
• Geographic altitude.
• Changes in temperature
• Diseases derived from sickle cell anemia.

Diagnosis and complications

The diagnosis of sickle cell anemia is usually made by a blood test. The earlier it is done, the greater the treatment possibilities. Neonatal and even prenatal screening programs have been implemented in many parts of the world, in which case the amniotic fluid is analyzed.

Sickle cell anemia can cause many complications, especially in the medium and long term. The most common are the following:

• Severe anemia. If the deficit of functional red blood cells increases too much, the patient is in serious danger of death. It is sometimes present in younger babies.
• Spleen damage. In this case, the risk of contracting bacterial diseases of all kinds increases dramatically.

• Acute chest syndrome. If the lungs do not receive enough oxygen, some areas will suffer some damage, preventing the lungs from carrying out their function normally. It is a serious problem that must be treated urgently in the hospital.
• Brain complications. Up to 24% of people with sickle cell disease have strokes before the age of 45.

Other common complications are retinal damage, pulmonary hypertension, heart and kidney problems, painful erections, gallstones, liver complications, leg ulcers, and joint pain. Growth is also likely to be stunted and pregnancies to be risky.