DEFINITION SICKLE CELL
Sickle Cell disease is a hereditary disease characterized by sickle-shaped red blood cells and chronic hemolytic anemia.
In sickle cell disease, red blood cells have an abnormally abnormal hemoglobin (oxygen transporting protein), reducing the amount of oxygen in the cell and causing the cell shape to become sickle-like. Sickle-shaped cells clog and damage the smallest blood vessels in the spleen, kidneys, brain, bones, other organs and lead to reduced oxygen supply to the organ.
The sickle cell is fragile and will break as it passes through the blood vessels, causing severe anemia, blockage of blood flow, organ damage and possibly death.
CAUSE SICKLE CELL
Sickle cell disease almost exclusively attacks blacks. About 10% of blacks in the US have only 1 gene for this disease (they have sickle cell chain) and do not suffer from sickle cell disease. About 0.3% have 2 genes and suffer from sickle cell disease.
SYMPTOMS SICKLE CELL
Patients always experience various levels of mild anemia and jaundice, but they have few other symptoms. Anything that causes a decrease in the amount of oxygen in the blood, (eg heavy exercise, mountain climbing, flying at altitudes without sufficient oxygen or disease) can lead to sickle cell crisis, characterized by:
- the worsening of anemia suddenly
- pain (often felt in the abdomen or long bones)
- sometimes shortness of breath.
Abdominal pain can be very severe and the patient may experience vomiting, this symptom is similar to appendicitis or an ovary cyst.
In children, the common form of sickle cell crisis is chest syndrome, characterized by severe chest pain and difficulty in breathing. The exact cause of this chest syndrome is unknown but is thought to be due to an infection or blockage of blood vessels due to blood clots or embolus (a fraction of blood clots clogging blood vessels).
Most sufferers experience enlarged spleen during childhood. At the age of 9 years, the spleen is severely injured so that it shrinks and does not work anymore. The spleen works to help fight infection, so the patient is prone to pneumococcal pneumonia or other infections. Viral infections can cause reduced blood cell formation, resulting in anemia becoming more severe.
Over time the liver becomes larger and often forms gallstones from broken pieces of ruptured red blood cells. The heart is usually enlarged and often found murmur sounds.
Children suffering from this disease often have relatively short bodies, but the arms, legs, fingers and toes are long. Changes in bone and bone marrow can cause bone pain, especially in the hands and feet.
There may be episodes of bone pain and fever, and the hip joint is severely damaged and ultimately has to be replaced with an artificial joint. Circulation to poor skin can cause open sores in the legs, especially on the ankles. Damage to the nervous system can cause a stroke.
In elderly patients, the lungs and kidneys have decreased function. Adult men can suffer from priapism (pain when having an erection). Sometimes the patient’s urine contains blood due to bleeding in the kidneys. If it is known that this bleeding is associated with a sickle cell chain, then the patient should not undergo exploration surgery with a needle.
DIAGNOSIS SICKLE CELL
Anemia, gastric pain, and bone pain, as well as nausea in a black person, is a sign typical for a sickle cell crisis. At the examination of blood samples under a microscope, can be seen red blood cells are crescent-shaped and broken from red blood cells are destroyed.
Electrophoresis may find abnormal hemoglobin and indicate whether a person has sickle cell disease or has only a sickle cell chain. The discovery of sickle cell chain is important for family planning, which is to determine the risk of having a child with sickle cell disease.
TREATMENT SICKLE CELL
Previously sickle cell disease patients rarely live until age over 20 years, but now they can usually live well until the age of 50 years. Sickle cell disease cannot be treated, therefore treatment is aimed at:
- to prevent a crisis
- controlling anemia
- reduce symptoms.
Patients should avoid activities that can cause a decrease in the amount of oxygen in their blood and should seek immediate medical help despite minor illnesses, such as viral infections. Patients have a high risk of infection, so have to undergo immunization with pneumococcal vaccine and Hemophilus influenzae.
The sickle-cell crisis requires hospitalization. Patients get large amounts of fluid through the blood vessels (intravenous) and drugs to reduce pain. Given blood and oxygen transfusion if anemia is estimated to be severe enough to cause a risk of stroke, heart attack or lung damage. Circumstances that may cause crises, such as infections, should be treated.
Drugs that control sickle cell disease (eg hydroxyurea), are still under investigation. Hydroxyurea increases the formation of a type of hemoglobin especially found in the fetus, which will decrease the number of red blood cells that turn into a crescent. Therefore, this drug reduces the frequency of sickle cell crisis.
To the patient can be grafted bone marrow from family members or other donors who do not have sickle cell gene. This transplant may be healing, but the risk is great and the transplant recipient should take a drug that suppresses immunity throughout life. Genetic therapy, which is a technique of planting normal genes into precursor cells (cells that produce blood cells), is still under study.