Definition
Sickle cell anemia is an inherited form of anemia in which the number of circulating erythrocytes in the blood is so low that it does not guarantee adequate oxygen transport throughout the body. It is called "falciform" due to the particular structural shape of red blood cells: these cells are not roundish, biconcave and elastic, but take on the shape of a sickle, they tend to aggregate and are fragile and angular.
Causes
The cause that triggers the sickle cell anemia lies in a genetic mutation on the gene responsible for the production of hemoglobin, therefore it is not associated either with food deficiencies (eg sideropenic anemia) or with infections (eg pernicious anemia, which may depend on gastric insults of H. Pilory). Sickle cell anemia is an autosomal recessive disease.
Symptoms
Pain, headache and breathing and visual difficulties are the symptoms that characterize sickle cell anemia; more precisely, pain is often perceived at the level of the back, stomach, chest and bones, and can be of a variable amount, last a few minutes or last for hours or days. Breathing difficulties often coincide with sports activities, but can also appear during rest. Sickle cell anemia increases the risk of infections.
Information on Sickle Cell Anemia - Drugs for the Treatment of Sickle Cell Anemia is not intended to replace the direct relationship between health professional and patient. Always consult your doctor and / or specialist before taking Sickle Cell Anemia - Drugs for the Treatment of Sickle Cell Anemia.
drugs
Unfortunately, there is no pharmacological treatment that can ensure a complete cure from sickle cell anemia; however, some medications can relieve pain and prevent the onset of complications associated with the disease.
Bone marrow transplantation, on the other hand, is the only therapeutic option that definitively resolves sickle cell anemia, although this medical procedure is extremely complicated and involves serious risks, including death. It should be emphasized, however, that it is very complex to find a compatible donor.
Blood transfusions and oxygen supplementation are further therapeutic procedures useful for lightening the pain symptoms that accompany sickle-cell anemia.
Antibiotics : we have seen that sickle cell anemia increases the risk of contracting infections; for this reason, affected patients may undertake preventive antibiotic treatment. In particular:
- Penicillin G or benzylpenicillin (eg Benzil B, Benzil P): can be given to children as early as two months after birth; the administration of this antibiotic is always recommended up to 5 years, in order to prevent pneumonia and other more dangerous infections, especially for children. The dosage must always be established by the doctor; indicatively, the recommended dose for the prevention of streptococcal infections is expected to take 1-5 million intravenous units (loading dose), even several times during the day.
Painkillers (NSAIDs and corticosteroids) : since the pain is almost constant in all sickle cell disease patients, the administration of painkillers (which does not help to fight the triggering cause anyway) is a very important aid to lighten the symptoms.
Vaccination : since anemia favors infections, especially for children who are affected, immunization by vaccination is recommended. Consult your doctor.
Urea derivatives (hydroxyurea): the drug is generally used in the oncology field; however, some sick people with sickle cell disease are treated with this active ingredient, both because it lightens the pain associated with the disease, and because it reduces the need for blood transfusions. The drug works by stimulating the production of fetal hemoglobin (a type of hemoglobin in newborns able to prevent the development of sickled cells).
- Hydroxyurea (eg Onco-carbide): the dosage of this drug for sickle cell anemia foresees to take 15mg / kg once a day. The dose can be increased by 5 mg / kg / day every 3 months, up to a maximum of 35 mg / kg / day. Hydroxyurea can only be used in severe sickle cell anemia and in acute pain crises; do not use for long periods, as it seems to favor leukemia or other cancers.
Bronchodilators : sickle cell anemia is often accompanied by more or less intense respiratory difficulties (eg asthma), which can be controlled with bronchodilator drugs.
- Ipratropium bromide (eg Atem, Breva): the drug can be found in formulations made up of the only active ingredient, or in association with beta2-agonist drugs. Using aerosol, repeat 2 inhalations (36 mcg) 4 times a day (do not exceed 12 inhalations per day). Alternatively, take a 500 mg single-dose vial (nebulised solution), 3-4 times a day. The drug is indicated to treat asthma and severe breathing difficulties triggered by sickle cell anemia.
- Isoetarin: belonging to the class of bronchodilator drugs, isoetarin ensures a relaxing action on the bronchial smooth muscle.
- Theophylline (eg Aminomal Elisir, Diffumal, Respicur): theophylline is a xanthine drug used in therapy to reduce bronchoconstrictor stimulation even in the case of sickle cell disease. The drug should be taken at a loading dose of 5 mg / kg. Consult your doctor.
Integration of folic acid, vitamin E and zinc: in the case of sickle cell anemia the administration of vitamin B9 and zinc seems to be particularly suitable:
- Folic acid (eg Folina, Fertifol, Folidex): available both as soft capsules of 5 mg of active ingredient (to be taken 1-3 times daily), and as a solution for injection with 15 mg of folic acid (take once a day, intramuscularly). Vitamin B9 can prevent alterations and damage to blood vessels, a possible occurrence in the context of sickle cell disease.
- Vitamin E (eg Sursum, Ephynal, Rigentex): vitamin E, the antioxidant par excellence, reduces oxidative stress inside red blood cells in patients suffering from sickle cell disease and thalassemia. In general, it is recommended to take an active dose of 200 units (10 ml), orally (oral liquid formulation), once a day.
- Zinc (eg Zincomethyl, Ektogan, ZMA): indicatively, take 50 mg of active three times a day. Zinc supplementation reduces the frequency of painful crises in sickle cell disease.
Pharmacological expectations and hopes for the future: currently, sickle cell anemia is not curable, but researchers are hopeful and new treatments are being tested:
- Nitric Oxide Supplements: Reducing the viscosity of red blood cells and creating a dilation of blood vessels, nitric oxide could prevent the aggregation of sickled cells
- Gene therapy: by introducing a healthy gene in the bone marrow (responsible for the production of fetal hemoglobin) the level of physiological hemoglobin could be rebalanced.
- De-activation of the defective gene: given that sickle cell anemia is caused by an alteration of a gene, its deactivation could be a decisive strategy.
- Innovative drugs for the treatment of sickle cell anemia, aimed at increasing the synthesis of fetal hemoglobin, useful for preventing sickle cells from forming.
