ABOUT THE DISEASE

SIGNS AND SYMPTOMS

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

● Its most common expression is painful crises. These crises occur due to obstruction (clogging) of the thinnest vessels, which leads to a decrease in the flow of blood and oxygen to certain organs, causing infarction of that organ (such as acute heart infarction), and consequently pain in that place The most affected parts of the body are usually the bones, muscles, tendons, abdomen and chest (which causes a syndrome also known as acute chest syndrome). Children can also experience very painful swelling of the hands and feet (dactylics), due to inflammation of the soft tissue around the wrist, ankle, finger, and toe joints.

● Intense pallor and enlargement of the spleen (due to the retention of a large volume of blood in this organ) characterize the condition known as a kidnapping crisis (emergency situation).

● Pallor (due to anemia) and easy tiredness, caused by the reduction of circulating oxygen.

● Jaundice: yellowish color more visible in the sclera (white of the eyes), due to the excess of bilirubin, pigment that is found inside the red blood cells that, when they rupture, release bilirubin that is impregnated especially in the skin and eyes.

● Choluria: darkened urine (Coke color), also due to the presence of bilirubin released in the urine.

● Retardation of growth and sexual maturation due to the presence of anemia, infections and interference in hormone production.

● Ulcers (sores), especially in the lower limbs. They usually start in adolescence and tend to become chronic due to increased blood viscosity and poor circulation in these thinner vessels.

● Stroke: the obstruction of the finest vessels can occur in any organ and unfortunately also in the brain, causing the cerebrovascular accident ( stroke ), the most common cause of stroke in children.

● Another very common symptom is priapism, which occurs due to the same obstruction, but now in the cavernous bodies of the penis, which causes continuous erection of the same with pain that varies from mild to unbearable.

Due to the high frequency of painful crises, which lead patients to seek the Emergency Room (usually the same services that are closest to their residence), these patients can often be taken as drug addicts by the health team, since the most potent and indicated analgesics are those of the opiate family (morphine, methadone, etc.). As, unfortunately, teams are not very familiar with the most current pain control protocols, patients often do not receive adequate analgesia, which can perpetuate even more the period of hospitalization and consequently the infectious risk with hospital germs that are more resistant and that put the lives of these patients at risk, since their immunity is also different from that of a healthy individual. It is worth noting that, in addition to everything, the fact of feeling a lot of pain, this situation is extremely embarrassing for patients who arrive at the health services in despair, as they have already been medicated at home with several oral analgesics without success.

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.