Sickle cell anemia is a disorder in which that affects the normal capacity of red blood cells. RBC is vital cell required to supply oxygen and nutrients to the body. The shape of red blood cells of a person affected with sickle cell anemia resembles a sickle or crescent moon making it insufficient to supply the required blood to the organs. This condition can reduce the normal blood flow to all parts of the body.
This disorder is caused by gene mutation and is inherited. Treatment of this disease is oriented towards reducing the intensity of symptoms. The individual will inherit the abnormal hemoglobin which carries distorted shape of red blood cells. This condition can reduce the normal blood flow and sometimes damage the blood vessels leading to tissue damage and severe pain.
How sickle cells are inherited?
To inherit the disorder of sickle cell anemia, a child should inherit the mutated gene both from his father and mother. Some children may have only one sickle cell and they are just “carriers” of cell. Sickle cell anemia is an autosomal disorder. A child should have two sickle cells in his blood to develop this disease. A child that carries a sickle cell will not show any signs of this disorder. The problem occurs only if he gets married to a woman who is a carrier of sickle cell. Their children will have the highest risk of developing this disease.
Symptoms :
The most fortunate part of this disease is the symptoms can be observed as early as 4 months infant. The affected child will show one or more of the below signs.
Anemia :
Since sickle cells are weak they often break easily inside leading to depletion of red blood cells. Unlike normal RBC which can survive for 120 days these sickle cells will die in about 10 days. This causes acute shortage of red blood cells leading to anemic condition which in turn leads to fatigue and body pain.
Crises :
Crises are episodes of intense pain which is considered to be major sign of sickle cell anemia. Intense pain is felt when the affected RBC would block the normal blood flow causing pain in the abdomen, chest and joints. Episodes of pain may last for few hours or few weeks.
Hand Foot Damage :
The child affected with sickle cell anemia will have swollen hands and feet. Inflammation of extremities is caused by sickle shaped cells of the blood which blocks the blood flow leading to swelling.
Infections :
The child can have sickle cell anemia if he develops frequent infection.
Stunted Growth :
Since the child may not get enough quantities of oxygen and nutrients required for normal development, he may have delayed puberty or reduced growth rate.
Vision Problem :
Many people with this disease can experience vision problems if the tiny blood vessels get clogged with several sickle cells inside. This in turn damages the retina causing vision problem.
Causes :
Sickle cell anemia is an inherited disorder acquired by birth. Genetic factor plays a great role in this disease. The red blood cells of the affected child will become sticky and rigid due to the presence of abnormal hemoglobin. Both the father and the mother should pass on the affected gene to their offspring to develop this disease. It is caused by autosomal inheritance. Fertilized egg formed by the mating of two people (who are carriers of sickle cell) has 25% chance for having normal hemoglobin, 25% chance for having sickle cell anemia and 50% chance for producing a carrier child.
Who are at risk?
Certain ethnic races of Africans and Americans are prone to develop sickle cell anemia. Mutated genes are commonly seen in people of India, Saudi Arabia, Mediterranean peninsula, South and Central America.
Complications :
In some cases, sickle cell anemia can cause life threatening conditions like Stroke (if the blood flow of the brain gets blocked), acute chest syndrome (if the blood supply to the lungs are blocked), and pulmonary Hypertension (high Blood Pressure causing choking and shortness of breath). In all the above cases, it can cause life threatening conditions and can become fatal. Sometimes it can cause organ damage, if particular organ is affected by reduced blood flow. In some cases, it can cause vision problems, Skin Ulcers and gallstone formation.
Diagnosis :
Your doctor will request for blood test to check the level of hemoglobin S. Every infant will be screened for defective hemoglobin in the America to initiate early treatment. Even for adults, checking the blood sample will clearly indicate the presence of sickle cells. Nowadays, testing can also be done for unborn baby by taking sample of fluid from the uterus and screening it for sickle cell gene.
Treatment :
Bone marrow transplant is the first line treatment for sickle cell anemia. The entire procedure carries some risk and it is also difficult to find a donor. Children with sickle cell anemia should be checked with doctor regularly for assessing the red blood count and to monitor the health.
Medications :
Antibiotics are prescribed for infants to prevent from serious infections like Pneumonia. Pain relieving drugs like ibuprofen can be taken by adults to manage intense pain. Painful crises can be managed by taking hydroxyurea which will decrease the need for blood transfusions. This drug will eventually stimulate the production of fetal hemoglobin which will prevent formation of sickle cells further.
Blood transfusion is done for adults with severe symptoms. In this procedure healthy red blood cells are separated from the donor’s blood which is then injected intravenously into the person with sickle cell anemia. This will increase the production of normal RBC thus controlling anemic condition. Blood transfusion is done for children also who are at high risk for getting a stroke. This procedure carries some risk of building up excess of iron in the body damaging vital organs. Hence the health condition should be monitored carefully. People with acute chest syndrome can get supplemental oxygen to make breathing easy.
Bone Marrow Transplant :
In this procedure, stem cells of the donor are separated from the blood which is then injected intravenously to the affected person after depleting the diseased bone marrow by chemotherapy. These healthy cells will migrate to the bone marrow region to start producing healthy red blood cells.
This task carries high risk if the body of the concerned person rejects the healthy stem cells. Stem cell transplant is done only for rare cases if no other alternative is available. It is difficult to find a suitable donor in many cases. At present, gene therapy is under research to prevent formation of defective hemoglobin in the newborns.
Lifestyle Changes :
Folic acid is an essential substance for the development of healthy bone marrow. You can include folic acid supplement and also consume more of vitamins in your diet. Drink lot of liquids and avoid coffee and tea. Do not expose your body to extreme weather. Exercise regularly and do not use decongestant medications regularly. People with sickle cell anemia should carry supplementary oxygen while flying in high altitude.
Prognosis :
There are people who survive for many years with sickle cell anemia. With early intervention and suitable treatments many children can outgrow this problem. In severe cases there may be impairment of growth causing physical as well as emotional turmoil. In rare cases death occurs due to bacterial infection or stroke or Kidney Failure. Genetic counseling is appreciated for parents who carry the sickle cell and are preparing to have a child.
