ABOUT THE DISEASE

WHAT IS IT

The Sickle Cell Disease gene causes changes in hemoglobin, a pigment found in red blood cells that is responsible for oxygenating the blood and all the tissues of the body.

This alteration causes the cell to elongate, which loses its original shape, similar to a bean grain, and takes on a more elongated shape, resembling a sickle. Hence, the name Sickle Cell Anemia.

In addition to the change in shape, sickle cell disease makes the cell more rigid, less elastic. This interferes with their circulation in the blood. When transiting through thinner blood vessels (the capillaries), the cells are unable to proceed, which leads to blockage (blockage) of the vessel.

As a result, an area of tissue will be without blood supply, that is, without oxygenation. This area is called infarcted or vaso-occluded.

This phenomenon can occur in all tissues, so Sickle Cell Disease is considered systemic, that is, it can affect various parts of the body.

In each of them it will cause local infarction: in the heart it will result in some heart disease, in the lungs it can cause pneumonitis, the bones can develop necrosis and so on.

Silent Threat

A person can go their whole life without knowing they have the Trait, since the presence of the same has no clinical expression of sickle cell disease and its diagnosis can only be performed by a specialized test: hemoglobin electrophoresis, which is not routinely requested by the general practitioner, unless there is some evidence of anemia.

What is it?

The Sickle Cell Disease gene causes changes in hemoglobin, a pigment found in red blood cells that is responsible for oxygenating the blood and all the tissues of the body.

Signs and Symptoms

Do I have sickle cell disease? As the pathology is little known, it is important to know what symptoms it causes.

Trait or Disease?

Since sickle cell disease is genetic and therefore hereditary, it will have been passed on by a combination of the genes of the father and mother.