What is Sickle Cell Anemia(Sickle Cell Disease)?: Symptoms, Causes, Drugs for Treatment and Prevention
Causes
The cause that triggers sickle cell anemia lies in a genetic mutation on the gene responsible for the production of hemoglobin, therefore it is not associated either with nutritional deficiencies (e.g. iron deficiency anemia) or with infections (e.g. pernicious anemia, which can depend on gastric insults of H. Pilory). Sickle cell anemia is an autosomal recessive disease.
The information on Sickle Cell Anemia – Medicines 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 – Medicines for the Treatment of Sickle Cell Anemia.
Medicines
Unfortunately, there is no pharmacological treatment capable of ensuring complete recovery from sickle cell anemia; however, some medications can relieve pain and prevent complications associated with the disease.
Bone marrow transplant, however, is the only therapeutic option that definitively resolves sickle cell anemia, even if this medical procedure is extremely complicated and involves serious risks, including death. It should be underlined, however, that it is very complex to find a compatible donor.
Blood transfusions and oxygen supplementation are additional therapeutic procedures useful for alleviating the painful symptoms that accompany sickle cell anemia.
Below are the classes of drugs most used in therapy against sickle cell anemia, and some examples of pharmacological specialties; it is up to the doctor to choose the most suitable active ingredient and dosage for the patient, based on the severity of the disease, the patient’s state of health and his response to the treatment:
Antibiotics: we have seen that sickle cell anemia increases the risk of contracting infections; for this reason, patients who are affected can undertake preventive antibiotic treatment. In particular:
- Penicillin G or benzylpenicillin (e.g. 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 of age, 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 infections caused by streptococci involves taking 1-5 million units intravenously (loading dose), even several times during the day.
Painkillers (NSAIDs and corticosteroids): since pain is almost a constant in all sickle cell anemia sufferers, the administration of painkillers (which, however, does not help fight the underlying cause) constitutes a very important aid in alleviating the symptoms.
Vaccination: since anemia favors infections, especially for children who are affected by it, immunization through vaccination is recommended. Consult your doctor.
Urea derivatives (hydroxyurea): the drug is generally used in the oncology field; however, some sickle cell anemia patients are treated with this active ingredient, both because it relieves the pain associated with the disease and because it decreases the need for blood transfusions. The drug works by stimulating the production of fetal hemoglobin (a type of hemoglobin in newborns that can prevent the development of sickle cells).
- Hydroxyurea (e.g. Onco-carbide): the dosage of this drug for sickle cell anemia involves taking 15mg/kg once a day. It is possible to increase the dose by 5 mg/kg/day every 3 months, up to a maximum of 35mg/kg/day. Hydroxyurea can only be used in severe forms of sickle cell anemia and in acute painful crises; do not use for long periods, as it seems to favor leukemia or other forms of cancer.
Bronchodilators: sickle cell anemia is often accompanied by more or less intense breathing difficulties (e.g. asthma), which can be controlled with bronchodilator drugs.
- Ipratropium bromide (e.g. Atem, Breva): the drug is available in formulations consisting of the active ingredient alone, or in combination with beta2-agonist drugs. Via aerosol, repeat 2 inhalations (36 mcg) 4 times a day (do not exceed 12 inhalations per day). Alternatively, take a single-dose 500 mg vial (nebulized solution), 3-4 times a day. The drug is indicated to treat asthma and severe breathing difficulties triggered by sickle cell anemia.
- Isoetarine: belonging to the class of bronchodilator drugs, isoetarine ensures a relaxing action on bronchial smooth muscles.
- Theophylline (e.g. Aminomal Elixir, Diffumal, Respicur): theophylline is a xanthine drug used in therapy to reduce the bronchoconstrictor stimulus even in the case of sickle cell anemia. The drug should be taken at a loading dose of 5 mg/kg. Consult your doctor.
Supplementation of folic acid, vitamin E and zinc: in case of sickle cell anemia the administration of vitamin B9 and zinc seems to be particularly suitable:
- Folic acid (e.g. Folina, Fertifol, Folidex): available both as soft capsules of 5 mg of active ingredient (to be taken 1-3 times a day), and as an injectable solution of 15 mg of folic acid (to be taken once a day , intramuscularly). Vitamin B9 can prevent alterations and damage to blood vessels, which is possible in the context of sickle cell anemia.
- Vitamin E (e.g. Sursum, Ephynal, Rigentex): vitamin E, antioxidant par excellence, reduces oxidative stress within red blood cells in patients suffering from sickle cell anemia 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 (e.g. Zincometil, Ektogan, ZMA): approximately, take 50 mg of active ingredient three times a day. Zinc supplementation allows you to reduce the frequency of painful crises in the context of sickle cell anemia.
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: By reducing the viscosity of red blood cells and creating dilation of blood vessels, nitric oxide may prevent the aggregation of sickle cells
- Gene therapy: introducing a healthy gene into the bone marrow (responsible for the production of fetal hemoglobin) could rebalance the physiological hemoglobin level.
- Deactivation of the defective gene: since sickle cell anemia is caused by an alteration of a gene, deactivating it could be a solution strategy.
- Innovative drugs for the treatment of sickle cell anemia, aimed at increasing the synthesis of fetal hemoglobin, useful for preventing sickle cell cells from forming.
