What is sickle cell disease?
Sickle cell disease, is a disease hereditary that must be transmitted by both parents for their child to be reached. It is especially widespread on the African continent, being able to concern, in certain regions, up to 30% approximately of the population.
But it is also found around the Mediterranean: in Italy, particularly in Sicily, Greece and Anatolia. Sickle cell disease is found in childhood at 6 months of age, but is rarely detected in infants.
Sickle cell disease is a chronic disease
The affected subjects have a delay of size and weight, a pubertal delay, nutritional deficits, in particular in folates, essential vitamin to the production of red blood cells. The volume of the heart is abnormally large, often associated with respiratory failure, the person has retinal abnormalities and a larger spleen, which gradually atrophies. Since it can no longer fulfill its role as a filter, the patients are then more susceptible to pneumococcal or meningococcal infections.
The disease can also be manifested by seizures
The patient suddenly experiences intense and brutal pain in one part of the body, including the hands, feet, hips or abdomen. This happens if a clot blocks an artery.
Or a crisis can lead to regenerative anemia because of the destruction of a large number of red blood cells. More fragile, patients are susceptible to infections, and their anemia worsen in case of infection with parvovirus B19. Children are particularly susceptible to pneumococcal infections.
In any case, the disease can lead to serious complications such as stroke or pulmonary arterial hypertension.
The identification of the disease can be done at the screening stage, from the parents' blood test at the beginning of the pregnancy, if they belong to a risk category. They are informed that in case of birth of a child conceived by two healthy carriers, the unborn child has 1 in 4 risk of suffering from the depranocytosis. The examination of the blood of the children makes it possible to make the diagnosis.
Symptoms can be treated with strong analgesics, including opiates, to reduce pain with oxygenation, the contribution of sports, blood transfusion or taking Hydréa, a drug used in the treatment of leukemias and certain cancers . Patients must also follow pneumococcal and meningococcal infections.
Transplants bone marrow, are effective in 85% of cases to suppress the disease by completely replacing the bone marrow of the affected person with that of a brother or sister.
Defectanocytosis requires a healthy lifestyle to prevent the factors triggering seizures: do not go above 1500 m altitude, do not take cold, but also avoid high heat, drink plenty of water, oxygenate well , avoid activities that require breathing, do not gain weight, wear loose clothing, do not block blood circulation, ensure daily iron intake in the diet and protect against respiratory infections.
Our advice
Parents can resort to fertilization in vitro with selection of compatible embryos for the transplant. This method is still subject to fierce controversy from an ethical point of view. The unborn baby, also called "baby drug" will provide a bone marrow transplant compatible with the affected child.
