An inherited condition in which someone develops sickle cells which block the circulation, causing anaemia and pains in the joints and abdomen.
Hereditary disease due to the presence of a particular form of haemoglobin which causes deformities of the red blood cells.
A hereditary genetic disorder involves an abnormality in the red blood cells where they contain a variant type of hemoglobin known as hemoglobin S. In circumstances of low oxygen levels (triggered by factors such as atmospheric conditions, infections, or dehydration), hemoglobin S undergoes crystallization as the red cells navigate through capillaries, which are the tiniest blood vessels. This process causes the cells to take on a sickle-like shape and become fragile, leading to a type of anemia known as hemolytic anemia. Furthermore, due to the difficulty these aberrant cells encounter in passing through capillaries, they periodically obstruct the blood supply to organs. This gives rise to episodes referred to as sickle cell crises, which can also materialize without any discernible cause.
Predominantly affecting individuals of black African descent, sickle cell anemia is a condition that arises from inheriting a flawed gene from both parents. In cases where the gene is transmitted from just one parent, it leads to a condition called sickle cell trait. In this scenario, individuals who are carriers of the gene are potentially capable of passing it on to their offspring.
Typically, symptoms become evident around six months of age and frequently commence with painful inflammation of the hands and feet. The presence of chronic hemolytic anemia brings about sensations of weariness, headaches, breathlessness during exertion, paleness, and jaundice. Sickle cell crises manifest suddenly, often accompanied by severe pain (particularly in the bones), presence of blood in urine (indicative of kidney impairment), or damage to the lungs or intestines. In instances where the brain is impacted, seizures, strokes, or loss of consciousness might ensue.
Among certain afflicted children, enlargement of the spleen occurs, leading to the entrapment of red blood cells at an exceptionally high rate. This gives rise to a potentially life-threatening variant of anemia. Following adolescence, the spleen commonly ceases to operate effectively, consequently elevating the vulnerability to infections in those who are affected.
Individuals possessing sickle cell trait typically do not experience any impairment and might even enjoy protection against falciparum malaria. However, under conditions of reduced oxygen levels, they might encounter analogous occurrences of blood vessel blockages.
The diagnosis is established through the examination of a blood smear and electrophoresis, which identifies the presence of hemoglobin S. Supportive treatment measures encompass the administration of folic acid supplements, penicillin, and vaccinations aimed at safeguarding against infections. Addressing life-threatening crises necessitates intravenous fluid infusions, oxygen therapy, antibiotic courses, and analgesic medications for pain relief. If the crisis remains unresponsive, a procedure called exchange blood transfusion might be undertaken. For individuals experiencing recurrent and severe crises, this exchange blood transfusion could become a regular intervention.