Sickle cell anemia

" sickle cell anemia

Symptoms and Complications

Sickle cell anemia, like all anemic forms, is accompanied by pallor, asthenia (tiredness and easy fatigue), cold skin (especially in the extremities) and headache.

Although sickle cell anemia is present from birth, most newborns do not show any particular signs or symptoms before the age of four. The anemic picture, although varying in degree among patients, is usually severe.

In homozygotes, the most characteristic symptom of sickle cell anemia, also known as sickle cell disease, is linked to the so-called painful crises; these are periodic and isolated episodes, with sudden onset and variable in intensity and duration (from a few hours to a few weeks) . The reason for these crises is to be found in the obstruction of blood flow, determined by the aggregation of sickle-shaped red blood cells. This "engorgement" can occur in the joints, chest, abdomen or particular organs (painful episodes are confined to the territory where vascular insufficiency occurs). The frequency of painful episodes is also variable; some people affected by sickle cell anemia experience them very rarely, while other individuals suffer rather frequent seizures, up to the dozen or more at " year. In more severe episodes, hospitalization may be necessary to relieve pain with intravenous drugs.

Other common symptoms among patients with sickle cell anemia are jaundice (yellow discoloration of the skin and ocular sclerae due to excessive hemolysis), swelling and pain in the hands and feet (due to circulatory block and the consequent appearance of edema), growth retardation in children, delayed puberty, visual problems and increased susceptibility to infections (due to lesions of the spleen linked to excessive catabolism of abnormal red blood cells).

The increased hemolysis (process of destruction of red blood cells) can lead to systemic iron overload and excessive bilirubin formation, with hyperbilirubinemia and pigment gallstones. Chronic bone marrow hyperactivity causes typical bone changes, which become visible on radiological examination, while the compensatory activity of the heart (which beats more rapidly to compensate for hypoxia), can lead to its excessive dilation.

Acute pulmonary syndrome is one of the most dangerous complications of sickle cell anemia, as well as the main cause of death. Similar to pneumonia, it is caused by the infiltration of red blood cells in the lungs or by infectious processes of the same.

The possible occlusion of the capillaries that carry blood to the brain predisposes patients to a greater risk of stroke. Capillary stasis and thrombosis can also cause secondary heart attacks in the bones, kidney, liver and retina.At the level of the lungs, the obstruction to circulation can cause pulmonary arterial hypertension, while the marked outflow of blood from the erect penis causes priapism.

Treatment, Cure and Therapy

For further information: Drugs for the Treatment of "Sickle Cell Anemia"

The absence of antifungal drugs has limited the treatment of sickle cell anemia to interventions aimed at improving living conditions. Liquids and analgesics are particularly useful in painful crises, while blood transfusions are necessary in the most severe anemic pictures.

Preventive treatment with antibiotics from early infancy makes it possible to limit the risks of infection, while adequate nutrition, rest and a healthy life contribute to limiting the effects of the disease. In this sense, the patient must avoid as much as possible the conditions favoring the sickling of red blood cells, reducing stress, keeping himself well hydrated, avoiding high temperatures and stays in the high mountains. Regular low-intensity exercise, as prescribed by the specialist, is important, but excessive efforts must be avoided; for the diet, however, particular attention should be paid to the intake of folic acid (present in fresh green leafy vegetables) . Adopting these behavioral rules also significantly reduces the risk of suffering acute painful crises.

Hydroxyurea, a drug normally used in oncology, can reduce the frequency of painful crises and the need for transfusions, thanks to its ability to stimulate the synthesis of fetal hemoglobin (a protein, typical of newborns, which helps prevent the formation sickle red blood cells) The utility of hydroxyurea is limited by some concerns about the increased risk of leukemia in patients undergoing chronic therapy. For this and other possible side effects, the methods of treatment with hydroxyurea can only be established by a doctor specialized in the treatment of sickle cell anemia. Currently, other medicines and natural extracts are being tested that can have the same stimulating action on the synthesis of Fetal hemoglobin: For some years now, concrete hopes have also been going on in the revolutionary sector of stem cells and gene therapy.

Bone marrow transplantation is based on the replacement of the marrow affected by sickle cell anemia with something else from a healthy donor. This intervention can represent an effective cure, but unfortunately it is a rather complicated and risky procedure, difficult to implement also due to the great difficulties in finding donors.

Thanks to numerous treatments and adequate prophylaxis, the life span of patients affected by sickle cell anemia has constantly increased, up to the current 50 years. The most common causes of death are intercurrent infections, diffuse pulmonary embolism, thrombosis of vital arteries and renal failure.