DREPANOCYTOSE, GENETICAL DISEASE OF RED GLOBULES Red blood cells are blood compounds that contain haemoglobin. This protein (or more precisely, this protein complex) captures and transports oxygen to the organs through the bloodstream. Sickle cell disease is a hereditary disease that causes hemoglobin damage. It is a recessive autosomal disease, i.e. both parents carry the mutation gene and transmit it to their children. A person who has received only one mutated allele is therefore a healthy carrier, which means that she can transmit the gene, but does not suffer from sickle cell disease. Patients with sickle cell disease have distorted red blood cells. They take the form of sickles. Because of this characteristic, sickle cell disease is also called sickle cell anaemia. DREPANOCYTOSE: WHAT POPULATION? This disease affects about 5 million people worldwide, according to the World Health Organization (WHO). It reaches more specifically people from Africa, the West Indies, India or Mediterranean countries, but also African Americans in the United States. WHAT ARE THE DREPANOCYTOSIS SYMPTOMES? Symptoms of this genetic red blood cell disease are heavy: anemia, chronic fatigue, painful seizures that often require emergency hospitalization, chronic pain, brain complications, deterioration of vital organs, significant reduction in life expectancy. The invisible handicap affects all aspects of the lives of those who suffer from it. The large number of hospital admissions has affected the education of young students, leading them in almost one third of cases to repeat their studies, to reorient themselves in spite of this, or even to stop their studies early. In adulthood, absences due to painful crises slow down professional trajectories, when they do not destroy them. First genetic disease in the world, it remains paradoxically unknown to the general public. According to the World Health Organization (WHO), it affects 50 million people. Professor Gil Chernia, a specialist in blood disease, felt that "dispanocytosis almost perfectly illustrates inequalities in health...". WHAT ARE THE RISKS OF DREPANOCYTARY CRISISES? Other problems: when vaso-occlusive seizures affect the brain, they cause stroke or transient ischemic accidents (TIA). Children between the ages of 5 and 6 are more likely to be affected. The symptoms characteristic of these brain disorders are headaches, speech disorders, loss of attention, hemiplegia. strokes can potentially leave neurological or motor sequelae depending on their severity (paralysis, aphasia). HEMOGLOBINE S, THIS ANOMALY AT THE ORIGIN OF DREPANOCYTOSIS Defanocytosis is due to a genetic mutation that affects the gene involved in the synthesis of a protein entering the hemoglobin composition. It is a gene located on chromosome 11, which results in the production of beta-globin. Hemoglobin is then referred to as Hemoglobin S, as opposed to normal Hemoglobin A. As a result of this mutation, red blood cells take on a typical form, reminiscent of a sickle. As a result, they become less soluble in the blood, when the blood volume decreases in the event of dehydration, fever or hypoxia (decrease in the level of oxygen in the blood). WHEN TO CONSULT? It is not uncommon for sickle cell disease to be detected shortly after birth. If this is not your case and you experience chronic fatigue, jaundice, chronic or acute diffuse pain, anaemia and infectious diseases on a regular basis, it is important to consult a doctor. Especially if you are among the populations at risk, cited above. The doctor will prescribe a test for sickle cell disease, depending on the signs you have. REVIEWS AND DIAGNOSIS OF DREPANOCYTOSE Screening for sickle cell disease from birth is recommended, even if it is not systematically performed in all countries. The evidence of haemoglobin S confirms the diagnosis sickle cell disease. The genetic test is performed after a blood sample, in newborns or in people who have not been detected at birth, if the disease is suspected. In the newborn, this test is performed after the 72nd hour of life. Blood collection is done at the infant's heel. TREATMENT OF DREPANOCYTOSE The treatment of sickle cell disease is essentially symptomatic. It is therefore based on monitoring of anaemia (regular hemograms), prescribing analgesic treatments in anticipation of painful seizures, and monitoring of infections, which are treated from the first signs of onset. The treatment of infections is therefore based on broad-spectrum antibiotic administration, in order to maximize treatment efficiency. To limit the impact of anaemia, doctors prescribe folic acid supplementation. Sometimes blood transfusions are also needed, in order to limit the proportion of falciform hematia and improve blood circulation. In the most severe forms of anaemia, a transfusion exchange is recommended: the blood of a healthy donor is transfused, in order to partially replace that of the patient. This therapeutic approach is also called erythrocyte exchange. THE MONITORING OF DREPANOCYTOSE CHILD Early childhood surveillance is intensified. Its care is multidisciplinary and involves the treating physician or paediatrician, school nurse, hospital services, parents. Children's immunization schedule is strictly monitored. To the usual vaccines are added those against influenza, BCG and hepatitis A. Children under 5 years of age are subject to preventive antibiotic therapy and enhanced surveillance: blood tests every 2 to 3 months, with regular x-rays and ultrasound if necessary. A transcranial echo-doppler is also performed between 12 and 18 months. Parental education is essential at the level of care. They are trained to observe hygiene rules or to monitor warning signs related to the manifestations of the disease. WHAT SPERANCE OF LIFE? Through early screening and improved medical care, the life expectancy of patients with sickle cell disease has increased. She has grown from 20 to over 40 years since the 1980s. New treatments have emerged and gene therapy offers hope for improved future management of sickle cell disease. HOW TO PREVENT DREPANOCYTOSE? To prevent sickle cell disease, genetic testing is essential, especially when you are in high-risk populations or when a family history is known. When two parents are healthy carriers, they can perform a genetic test during pregnancy (prenatal diagnosis) to check whether their child is affected by the disease or not. Sources: Inserm, Health Science - Drépanocytosis Vidal - Drépanocytosis - symptoms, causes, treatments and prevention The manual MSD Version for Health Professionals - Drépanocytosis AP-HP - Robert Debré Hospital - Drépanocytosis Let's Talk Drépano by Vertex Pharmaceuticals MCGRE : Fiery Health Diseases Rares Magazine Female Current Lemonde.fr/science/article/2021/10/27/la-drepanocytosis-must-receive-l-attention-legitime-qu-elle-merite