Question

write a 500 report on sickle cell anemia: origin, diagnosis, and its treatment.  

Answer 1

Sickle cell anemia

Sickle cell anemia is an inherited autosomal recessive disorder, which is caused by mutation in the hemoglobin-Beta gene found on chromosome 11. The red blood cells become rigid and sticky with a crescent moon appearance due to the defect in hemoglobin and and prone to get trapped in blood vessels and block the blood flow which cause tissue damage and pain due to insufficient oxygen supply to the tissues. The abnormal Red blood cells has less life span as they get broken easily compared to normal red blood cells which cause hemolysis and anemia.

The origin of the disorder is said to be approximately 70-150,000 years ago, in Africa and middle east countries like Saudi Arabia and India. The disease was first observed by Dr. James. B. Herrick who was a cardiologist and professor in medicine in 1910. The people from the mediterranean areas and middle east shown more cases in world wide. It is a single gene mutation disorder, so both parents needs to be the carriers to get the children affected with sickle cell disease. If one of the parent is affected, the child born will be having sickle cell traits or carriers.

Sickle cell anemia is due to low levels of RBC in the blood as the defective RBC will be destroyed with in 10 - 20 days where as the normal life span is 100 - 120 days. This cause fatigue due to inadequate oxygen supply to the body organs. The common symptoms are episodes of pain, swelling and ulcers in hands and feet, frequent infections due to organ damage, slow growth and development and vision problems.

The diagnosis of sickle cell anemia include newborn screening of blood, detailed patient history regarding the signs and symptoms of the condition, blood tests like sickle solubility test, Blood smear to find abnormally shaped red blood cells, complete blood count. It can be detected before birth by amniocentesis if one of the parents are sickle cell traits. Hb electrophoresis is the best method to confirm the disease as it can measure different types of hemoglobin level in the blood.

The treatment of sickle cell anemia is usually focused on management of symptoms and prevention of complications. They are rehydration therapy as it can prevent deformation of RBC and also help to return back the deformed RBS to normal state in some extent. The immunization can prevent the infections and treatment of infections can help to prevent sickle cell crisis. Blood transfusions and oxygen therapy can improve oxygen levels in the body and analgesics are used to relieve pain episodes. The common medications used to manage the condition are, Hydroxyurea (Droxia, Hydrea, Siklos) which reduce pain and increase fetal hemoglobin production and thereby reduce the need of blood transfusions and narcotics. The other recently FDA approved drugs are,Voxelotor (Oxbryta)  to improve anemia and L-glutamine oral powder (Endari), Crizanlizumab (Adakveo) to relieve pain episodes.

Sickle cell anemia is not curable, although we can reduce the incidence of disease by genetic testing and counselling and also it can be managed by certain medications and measures to provide maximum comfort to the affected individual.