THE DISEASE

The term Sickle Cell Anemia (SCA) is referred to Sickle Cell and Minor Disease Anemia.

Homozygous Sickle Cell Disease is a hereditary condition and it is referring to the gene pair that is responsible for the production of hemoglobin. Within the condition, abnormal hemoglobin is produced and as a result it causes the morphological disorder of the red blood cells. The shape of the red blood cells (the cells that contain hemoglobin and carry oxygen to the tissue) instead of being round, is sickle-like. These abnormal cells live less compared to the normal ones and also lack plasticity, become rigid or welded together and clog the small vessels where red cells are attached to the endothelium. Inflammation factors, oxidative stress and other factors are a part of the pathophysiological mechanism of the vaso-oclusive apparatus. The main outbreak of the disease are vaso-oclusive and painful bouts (when oxygen is not carried to the tissue), other bouts (like acute hemolytic and aplastic), chronic hemolytic anemia, chronic damage of vital organs and susceptibility to infections.

It’s the combination of Sickle cell and Beta Thalassemia that develops corresponding outbreaks.

The factors that affect the appearance of the symptoms are foremost genetic and incidentally environmental (dehydration, cold, heat, sudden changes of temperature, infections, diet, hypoxia etc.), also psychological (stress and sadness) and socio-economic. Initially, the treatment is curative and pertains to both the condition’s outbreaks (e.g. painful episodes) and the far-reaching consequences for various organs. Furthermore, prevention and avoidance of triggers play a significant role.

The outbreaks of the disease appear usually since infancy and/or early childhood and rarely, the individual can remain almost asymptomatic and manifest symptoms later in his/her life.

It’s about the mutation of a single gene of the B chains. This condition is nearly asymptomatic. Anemia doesn’t appear and sickling episodes may seldom occur possibly in severe hypoxia episodes (such as operations under general anesthesia, prolonged limb ligature, severe pneumonia, scuba diving, climbing at high altitudes). In laboratory terms, in the blood panel, hemoglobin, hematocrit and erythrocyte markers are within the normal ranges and the morphology of the red blood cells may appear normal. The sickling test is positive. The prognostic is very good and the person has an entirely normal life both individually and professionally. It doesn’t require any treatment but the administration of necessary genetic counseling to the carriers and their families is consequential.