Sickle cell anemia, or sickle cell disease, is an inherited disease that affects red blood cells (erythrocytes). Normally, RBCs are shaped like discs, which gives them the flexibility to move through even the smallest blood vessels. However, with this disease, the RBCs have an abnormal crescent shape resembling a sickle. This makes it sticky, hard, and prone to getting trapped in small vessels, preventing blood from reaching different parts of the body. This can cause pain and tissue damage.
TYPES
There are several types of sickle cell disease. The most common are:
- sickle cell anemia (SS)Sickle cell hemoglobin disease (SC),
- sickle beta plus thalassemia,
- sickle cell hemoglobin disease and
- Sickle beta zero thalassemias.
Sickle cell anemia (SS): When a child inherits alternate beta-globin genes (the sickle cell gene) from both parents, the child has sickle cell anemia (SS).
Sickle cell disease (SC): Individuals with sickle cell disease (SC) have a slightly different variant in the beta-globin genes that produce both hemoglobin C and hemoglobin S.
Sickle beta plus thalassemia: sickle beta plus thalassemia affects the production of the beta-globin gene. Red blood cells decrease in size due to less beta-protein production. If the hemoglobin S gene is inherited, you will develop hemoglobin S beta-thalassemia Symptoms are not severe.
Sickle-cell hemoglobin: Through research, hemoglobin D, a different variant of the beta-globin gene, has become from bees.
HISTORY
Symptoms related to sickle cell crises were known by various names in Africa, long before they were recognized in the Western Hemisphere. Symptoms of sickle cell anemia can be traced back to 1670 in one Ghanaian family.
It was in 1910 when James Herrick noticed, “freak elongated sickle-shaped red blood cells” in the blood of an anemic black medical student, and then the scientific community learned about it.
Emil’s 1917 discovery of the phenomenon of sickle, in vitro, in family members was the first to suggest the genetic basis of sickle cell. So it was discovered that it is a genetitakedition. Later it was explained that the sickle phenomenon, in the laboratory, was due to oxygen deprivation.
Huck and Sydenstricker, who performed the detailed pedigree analysis of Huck patients, concluded that the sickle cell phenomenon is inherited as a Mendelian recessive genetic trait.
SICKLE CELL ANEMIA SYMPTOMS
- Yellow eyes
- Painful swelling in the hands and feet
- Frequent episodes of pain
- stunted growth
- brain attack
- anemia (appears pale)
- dark urine
Statistics For Sickle Cell Anemia
The main pathology of sickle cell syndrome is a defect in the gene for hemoglobin, the protein that carries oxygen in the bloodstream. African populations typically carry the sickle cell form of this gene, with about 8% of African Americans carrying the vesicular disease gene. In other regions such as India and the Middle East, there are various abnormalities in the hemoglobin gene, causing a similar pattern of disease. This gene is relatively uncommon among the Caucasian population.
Sickle Cell Anemia Causes
The main cause of sickle cell anemia is hemoglobin, which is a component of red cells in the blood. The hemoglobin molecules in each red blood cell carry oxygen from the lungs to the organs and tissues and then return the carbon dioxide for removal by the lungs. In sickle cell anemia, this process is disrupted. After the hemoglobin molecules give up oxygen, some of them may clump together and form long like sticks which become stiff and take on a sickle shape and a genetic mutation also leads to the inheritance of one gene for hemoglobin S from each parent.
Diagnosis and screening of sickle cell anemia
A blood test can check for hemoglobin S – the defective form of hemoglobin that underlies sickle cell anemia.
Sickle cell disease in a fetus can be diagnosed by taking a sample of the fluid surrounding the baby in the mother’s womb (amniotic fluid) to look for the sickle cell gene.
DNA analysis: This test is used to investigate changes and mutations in the genes that produce the components of hemoglobin. It can be performed to determine whether a person has one or two copies of the Hb S mutation or has two different mutations in hemoglobin genes (for example, Hb S and Hb C).
Treatment and medication in modern trends
- Intravenous fluid therapy helps red blood cells return to their normal state. If you’re dehydrated, your red blood cells are more likely to distort and take the shape of a sickle.
- Treating the underlying or associated infection is an important part of crisis management, as the stress of infection can lead to a sickle cell crisis. Infection may also result from complications of the crisis.
- Blood transfusions improve the transport of oxygen and nutrients as needed. The stacked red cells are removed from the donated blood and given to patients.
- Supplemental oxygen is given through a mask. It makes breathing easier and improves oxygen levels in the blood.
- Pain medication such as morphine is used to relieve pain during a sickle crisis.
- Hydroxyurea (Droxia, Hydrea) helps increase fetal hemoglobin production. It may reduce the number of blood transfusions.
- Immunizations can help prevent infection. Patients tend to have lower immunity.
PREVENTION OF SICKLE CELL ANEMIA
- Drink plenty of water (hydration).
- Avoid extremely cold or hot temperatures.
- Avoid places or situations where oxygen is low, such as high altitudes, military training camps, or strenuous exercise.
- Get plenty of rest and take frequent breaks during exercise.
- Take hydroxyurea. People taking hydroxyurea should be monitored regularly by a doctor to make sure the right dose is given for the best effect.