Sickle cell disease: what is it?
Also known as sickle cell anemia, sickle cell disease is a disease of the blood, specifically hemoglobin. The red blood cells are deformed and have trouble circulating in the blood and can sometimes get stuck in blood vessels
2. What causes sickle cell ?
Sickle cell disease is an inherited genetic disorder. Clearly, the disease is transmitted by both parents, it is of course not contagious. In order to be sick, the child must receive from both parents an allele of the gene governing the structure of hemoglobin, the protein that transports oxygen in the blood. If he receives only one of these, he will not develop the disease, but he can transmit it if he has a child with a person in the same case as him. Two “healthy carriers” then have a one in four chance of having a sick child together.
✔️ Homozygous sickle cell disease ( S//S)
This is the most severe form. It means that both genes have undergone mutation. It occurs before the age of two, between 12 and 18 months and is characterized by:
- A pale complexion ;
- Abdominal pain;
- A high sensitivity to infections.
✔️ Heterozygous sickle cell disease( A//S)
The heterozygous form does not manifest itself. In fact, the person is a carrier of the disease on only one gene. The person can give birth to a sickle cell child if the other parent is also a carrier.
A child with a major sickle cell syndrome is very exposed to common or severe infections: pneumopathies, meningitis, septicemia, osteomyelitis, etc. These infections are severe especially in sickle cell children under 5 years old.
🔷Diagnosis of sickle cell disease.
To establish the diagnosis of the disease, the doctor recommends 3 reference examinations:
- Electrophoresis of hemoglobin for the diagnosis;
- Blood smear to observe sickle-shaped red blood cells;
- The CBC (blood count) shows a hemoglobin level between 7 and 9 g/dl.
🔷Treatment of sickle cell disease.
There is no cure for sickle cell disease, but it can be treated to relieve pain during crises, prevent the risk of serious infections, and prevent and manage complications. There are several types of treatments depending on the severity of the disease and how it manifests itself:
- Transfusions are discussed for hemoglobin levels below 7 g/dl using phenotyped and filtered erythrocyte concentrates ;
- Maintaining good hydration is paramount;
- Analgesics are adapted to the intensity of pain: paracetamol, nalbuphine (Nubain) etc ;
- The antibiotics are according to the localizations and germs (pneumococci, hemophilus, salmonella, mycoplasma, staphylococci…);
- Reserved for very severe forms, the only curative treatment is bone marrow transplantation