SICKLE CELL DISEASE

What Is Sickle Cell Disease?
   Sickle cell disease is a life-long illness. The term sickle cell disease (SCD) is an inherited red blood cell disorders. “Inherited” means that the disease is passed by genes from parents to their children. The sickle cell gene is passed from generation to generation in a pattern of inheritance called autosomal recessive inheritance. If only one parent passes the sickle cell gene to the child, that child will have the sickle cell trait. People with this condition can make both normal hemoglobin and sickle cell hemoglobin. Their blood may contain some sickle cells, which they can pass on to their children. Sickle cell disease is not contagious. A person cannot catch it, like a cold or infection, from someone else.
   Most children with SCD are pain free between painful crises, but adolescents and adults may also suffer chronic pain. The severity of the disease varies widely from person to person. But advances in the diagnosis and care of sickle cell disease have made the life expectancy of a person with sickle cell disease to Raise from 14 years to about 40–60 years in high income countries. Early diagnosis and regular medical care to prevent
complications also contribute to improved well-being.

Cause Of Sickle Cell Disease
   People with sickle cell disease have red blood cells that contain mostly hemoglobin S, an abnormal type of hemoglobin. They usually inherit two of these abnormal hemoglobin genes, one from each parent.
   Hemoglobin is the main substance of the red blood cell. It takes up oxygen in the lungs and carries it to all the tissues of the body. Cells in tissues need a steady supply of oxygen to work well. Normal red blood cells contain hemoglobin A. Hemoglobin S and C are abnormal types of hemoglobin.Normal red blood cells are soft and disc shaped. This shape makes the cells to be flexible so that and can squeeze through tiny blood  vessels to deliver oxygen. Sickle hemoglobin form stiff rods within the red blood cell, changing it into a misshapen, crescent, or sickle shape which are not flexible, thereby making it difficult for the red blood cells to pass through small blood vessels. They can also stick to vessel walls, causing a blockage that slows or stops the flow of blood. When sickle-shaped cells block small blood vessels, oxygen can’t reach nearby tissues and tissues that does not receive a normal blood flow eventually becomes damaged, which is the causes of complications of sickle cell disease. The lack of oxygen in the tissues can cause attacks of severe pain, called pain crises, which can occur suddenly and without warning. Sickle cells can’t change shape easily, so they tend to burst apart or hemolyze. Normal red blood cells live for about 120 before new ones replace them. Red blood cells containing mostly hemoglobin S do not live as long as normal red blood cells (normally about 10 to 20 days). In sickle cell disease the body may have trouble keeping up with how fast the cells are being destroyed. Because of this, the number of red blood cells is usually lower than normal. This condition is called anemia and it can make a person have less energy.
  
Symptoms Of Sickle Cell Disease
  Sickle Cell Disease is usually diagnosed in infancy. A baby born with sickle cell disease starts showing symptoms as early as at 4 months, when the fetal hemoglobin is replaced with Hemoglobin S and the cells become crescent shaped. Some of the signs to look out for include:
- Anemia
- Swollen hands and feet
- Abdominal swelling, especially if the area is tender to touch.
- Episodes of pain
- Delayed growth
- Fever
- increased risk of infection or frequent infections
- Sudden vision problems
- Yellow tint to the skin or whites of the eyes
- Pale skin or nail beds
- Trouble walking or talking
- Unexplained numbness
If you notice any of these symptoms,  contact a doctor immediately.

Types Of Sickle Cell Disease
There are several types of sickle cell disease. depending on the genes inherited, The most common are:
1. Sickle Cell Anemia (SS)- This is when the child receives Hemoglobin S genes from both parents. Patients with this condition have the most fatal anemias.
2. Sickle-Hemoglobin C Disease (SC)- When the child receives the Hemoglobin S gene from one parent and Hemoglobin C gene from anothe. The symptoms are less severe than in Hemoglobin SS type.
3. Sickle Beta-Plus Thalassemia or Hemoglobin S Beta Thalassemia (Sβ) - When the child receive the Hemoglobin B gene along with the Hemoglobin S gene, the hemoglobin production reduces along with the size of the red blood cells, but the biconcave structure remains.
4. Sickle Beta-Zero Thalassemia ( Sβ) - This is a severe form of beta thalassemia. The symptoms are as severe as in Hemoglobin SS type and it's complicated by no roduction of hemoglobin.
There's also Hemoglobin SD and Hemoglobin SE.

Risk Factor
  Sickle cell conditions are inherited from parents, so it comes down to genetics. The types of hemoglobin a person makes in the red blood cells depend upon what hemoglobin genes the person inherits from his or her parents. The gene is more common in families that come from Africa, India, Mediterranean countries, Saudi Arabia, the Caribbean Islands, and South and Central America.

Complications
- Stroke
- Skin ulcers
- Damage to most organs including the spleen, kidneys and liver.
- Priapism (painful prolonged erection)
- Acute chest syndrome
- Gallstones
- Pulmonary hypertension
- Blindness

Treatment
There's no cure for most people with sickle cell anemia. However, treatments can relieve pain and help prevent further problems associated with the disease. If diagnosed at infancy then health can be maintained with penicillin prophylaxis, vaccination against pneumococcus bacteria and folic acid supplementation. Complications are often treated with antibiotics, pain management, intravenous fluids, and surgery all backed by psychosocial support. Therapeutic methods are also available to aid in lengthening the patient's lifespan and managing the symptoms. Hydroxyurea is a therapeutic agent given to sickle cell disease patients with severe anemia, to reduce blood flow velocities in the brain so that chest pain and respiratory symptoms are kept in control. Patients experiencing vascular pain, in the hands and feet, are advised to consume water excessively to keep the blood cells mobile. Bone marrow transplants are administered in cases of severe anemia and respiratory difficulties. Early diagnosis preferably in the newborn period is the key to avoid complications of sickle cell disease.

Preventing Sickle Cell Disease
   Detecting the sickle cell trait before conceiving a baby is the only prevention measure. It is advised to go for blood test followed by a laboratory technique called Hemoglobin Electrophoresis  will determine the type of hemoglobin you have. Electrophoresis differentiates between normal hemoglobin (A), Sickle hemoglobin (S), and other different kinds of hemoglobin (such as C, D, E, etc.).