Sickle Cell Anemia - Symptom, Treatment And Causes

Sickle cell anemia is an abnormality of Red Blood Cells (RBCs). It is also known as sickle cell disease (SCD) and it is genetic. Normally the shape of RBCs are disc-like which make it flexible to travel within the smallest blood vessels. The disease is known as sickle cell anemia because of the fact that the shape of abnormal red blood cells resemble a sickle. The condition also include inflammation, pain as well as damaging of the tissues.

Below we have discussed all types of SCD with a brief description:

1. Hemoglobin SS disease: Being one of the most common types of sickle cell disease, it occurs when the patient inherits hemoglobin S gene copies from both parents. This is also known as Hb SS and is the most severe form of SCD.. Patients with Hb SS suffers worst symptoms.
2. Hemoglobin SC disease: this disease can be regarded as common kind of sickle cell disease. A patient will only suffer from this disease when he/she inherits Hb S gene from one parent and Hb C gene from another one. It is to be mentioned that patients who are suffering from Hb SC will have similar symptoms with those who have Hb SS.
3. Hemoglobin SB+ (beta) thalassemia: In this type, less beta protein is produced due to which the size of RBCs is reduced as it affects beta globin gene production. If this condition is inherited along with Hb S gene then the chances of a person to suffer from hemoglobin S beta thalassemia increases
4. Hemoglobin SB O (Beta-zero) thalassemia: It is the fourth type of SCD which involves beta-globin gene. The symptom of this type is similar to Hb SS anemia but are more severe.
5. Hemoglobin SD, SE, SO: They are very rare type of SCD and do not have severe symptoms.
6. Sickle cell trait: Patient is said to have sickle cell trait if he inherits a mutated gene (hemoglobin S) from one parent.

The symptoms of sickle cell anemia are usually seen in a patient who are above 6 months of their age. There are many symptoms which include:

• Fatigue
• Irritability
• Anemia
• Fussiness
• Bedwetting
• Jaundice
• Swelling and pain in hands and feet
• Infections
• Pain in chest
• Back pain
• Leg or arm pain

Infants and younger children present with fever, abdominal pain, pneumococcal bacterial infections, dactylitis, splenic infarcts. Influenced newborn children don't present with manifestations for the initial months as the fetal hemoglobin keeps the red platelets from sickling. Fetal hemoglobin is missing in red platelets delivered after birth. Hence, by approximately 5 months of age, sickling of red cells and relevant symptoms start.

Adolescents and young adults more commonly present with leg ulcers, aseptic necrosis, and eye damage. Adults typically present with intermittent pain episodes due to bone injury, muscle or internal organ injuries.

Sickle cell anemia is a disorder of the red blood cells. It results when any kind of change or mutation takes place in hemoglobin chains in red blood cells (the beta hemoglobin chains). Normally RBCs are disc shaped cells transfer to every blood vessel including the smaller ones to supply oxygen in the entire body. The one who is suffering from sickle cell anemia has RBCs which are stiff and sickle in shape.

Due to their sickle shape they are unable to move in small vessels of our body which causes pain or swelling and sometimes damage of the organ. It is to be mentioned that a lifespan of a healthy RBC is about 120 days but the RBCs of sickle cell anemic patient only live for 10 to 20 days. This results in the deficiency of RBC known as anemia.

A blood test can detect hemoglobin S-the abnormal hemoglobin in sickle cell anemia. You may likewise allude to a hereditary instructor. In children, a blood sample is taken from a finger or heels. The sample is screened for hemoglobin. In case, the screening is negative, no sickle cell gene is available however if the test positive, further tests are required to decide if a couple of sickle cell genes are available.

If sickle cell genes are detected, you may be tested for anemia. Further tests may be performed to check for complications of the disease. You may also be referred to a genetics specialist.

Sickle cell disease may also be diagnosed in a fetus by sampling the amniotic fluid for sickle cell genes. When either parent or both are diagnosed with the disease, it may be worth to undergo this screening. Also, referral to a genetic counselor is necessary to understand how to deal with the scenario.

Your doctor will provide you some medications which will help you in relieving the pain. If the condition is a bit serious, your medical practitioner will supply oxygen in your body through mask which will make breathing easier and will improve oxygen level in the blood. In some cases, the patient is hospitalized to provide a proper treatment.

Sickle Cell disease can’t be cured but can be treated or managed in some ways. The first important step is to eliminate the triggering factors that stimulate the risks of episodic pain. The things to be avoided include dehydration, facing extreme temperatures, going on high altitudes, strenuous exercise, stress, alcohol, and smoking.

Sickle Cell Anemia or SCD is an autosomal recessive disease and it can be inherited from both parents. In other words if a patient receives only one copy of defective HBB genes from his mother or father then he will not have sickle cell anemia and sickle cell trait. A child can suffer from Sickle anemia if:

• Traits of sickle cell are found in both the parents
• Both have sickle cell anemia
• One parent have SCT and the other has sickle cell anemia

Yes, SCD or Sickle Cell Disease can be cured. Your doctor will need to diagnose you and then after he will provide you the treatment. The treatment may include medications, bone marrow transplant, gene therapy.

Sickle cell anemia may cause a variety of complications like :

• Pulmonary hypertension-this is more common in adults than in children and may present with shortness of breath and fatigue. It may also be fatal.
• Stroke-occurs when sickle cells block the blood supply to an area of the brain. Signs of a stroke include weakness, seizures, numbness of arms and legs, slurred speech and loss of consciousness. A stroke may be fatal.
• Acute chest syndrome is a hazardous complexity and may cause chest torment, fever, and shortness of breath. It is caused by lung contamination or because of sickle cells obstructing the blood supply to the lungs. It may require antibiotics along with other treatments.
• Organ damage-sickle cells block the blood supply to various organs damaging them because of being deprived of oxygen and blood. In this illness, blood is low on oxygen in itself. Long-term deprivation of oxygen-rich blood may damage organs like kidneys, liver, spleen and many others. This may even be fatal.
• Blindness-This is due to sickle cells damaging the blood vessels to the eyes.
• Leg ulcers
• Gall stones-breakdown of red blood cells produces bilirubin whose high levels can cause gallstones.
• Priapism-It is a condition seen in men with sickle cell anemia where they have painful and long-lasting erections. This is because of sickle cells obstructing the veins to the penis. This can harm the penis and lead to ineptitude.

Based on the nutrients, calcium and vitamin-D-rich foods along with other nutrient sources are important in the case of Sickle Cell. Those include vitamin-D fortified milk, fruits, and vegetables, whole grains, protein such as egg, fish, chicken, meats, beans, tofu, nuts and seeds, calcium sources such as milk, yoghurt, cheese, etc., high-calorie rich foods like dried fruits, nuts, nut butter, smoothies and lots of water to avoid dehydration.

The cost may vary from 25,000 INR to 40,000 INR depending on the hospital. It may also depend on the severity of the patient’s condition. This amount includes the charges of tests, doctor’s fee, medications etc.

Sickle cell anemia is a genetic disorder and thus home remedies can only be supportive care. These should be employed as supportive care treatment rather than the alternative treatment option. Some of the home remedies for the treatment of sickle cell anemia are as follows:

• Over-the-counter drugs like aspirin and naproxen sodium must be used with caution if at all to be used because of its adverse effects on kidneys.
• Exercise regularly and after medical advice but don’t overdo it.
• Avoid extreme temperatures-Exposure to extreme heat or cold may provoke a sickle cell crisis.
• Folic acid supplement and healthy diet consumption daily-Bone marrow require folic acid and other nutrients to produce new red blood cells. A diet full of colorful fruits and vegetables and whole grains may prove beneficial in this regard.
• Drink plenty of water-Dehydration increases the risk of sickle cell crisis. Aim to drink at least 8 glasses of water a day and increase its intake provided you exercise or live in a hot climate to fight dehydration.

Summary: Sickle Cell Anemia is an incurable hereditary disease of the blood that seriously affects red blood cells. It is characterized by recurrent episodes of pain that vary in intensity i.e can be mild to severe. It can’t be cured but can be treated or managed in some ways. An important step is to eliminate the triggering factors that stimulate the risks of episodic pain. The things to be avoided include dehydration, facing extreme temperatures, going on high altitudes, strenuous exercise, stress, alcohol, and smoking.