We every one knows that how blood is important in all living creatures. Your blood is living tissue made up of liquid and solids. The liquid part is called plasma; made of water, salts, and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells, and platelets. Blood gave us the energy to run the body. Blood diseases and disorders affect one or more parts of the blood. Many blood diseases and disorders are caused by genes. Other causes include other diseases, side effects of medicines, and a lack of certain nutrients in your diet. Common blood disorders include anemia and bleeding disorders such as hemophilia. Sickle Cell Disease is also one of them which also known as Sickle Cell Anemia.
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What is Sickle Cell Disease?
Sickle Cell Disease is an inherited form of anemia. That means it’s passed down through families. It is a condition in which there aren’t enough healthy red blood cells to carry adequate oxygen throughout your body as people who have sickle cell disease have an abnormal protein in their red blood cells. Normally, Red Blood Cells (RBC) are flexible and round, moving easily through your blood vessels even the smallest blood vessels. However, in this disease, the RBCs have an abnormal crescent shape (C-Shaped) resembling a sickle. This makes them sticky and rigid. These irregularly shaped cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body. This can cause pain and tissue damage. Over a lifetime, sickle cell disease can harm a patient’s spleen, brain, eyes, lungs, liver, heart, kidneys, penis, joints, bones, or skin. Sickle cell disease is a lifelong illness. The severity of the disease varies widely from person to person.
There’s no cure for most people with sickle cell anemia. A blood and bone marrow transplant is currently the only cure for sickle cell anemia.
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Types of Sickle Cell Disease:
Red Blood Cells (RBC) contain a molecule called Hemoglobin which carries oxygen throughout the body. Hemoglobin is smooth, round, and flexible that allows RBCs to glide easily through your bloodstream. People who have sickle cell disease have abnormal hemoglobin, called Hemoglobin S or Sickle Hemoglobin and they inherit two abnormal hemoglobin genes, one from each parent. The types of sickle cell disease include the following:
- Hemoglobin SS: – Hemoglobin SS disease is the most common type and the most severe form of sickle cell disease. It occurs when you inherit copies of the hemoglobin S gene from both parents. This forms hemoglobin known as Hb SS. Individuals with this form experience the worst symptoms at a higher rate.
- Hemoglobin SC: – It is the second most common type of sickle cell disease and is less severe than Hb SS. It occurs when you inherit the Hb C gene from one parent and the Hb S gene from the other. Individuals with Hb SC have similar symptoms to individuals with Hb SS.
- Hemoglobin SD, Hemoglobin SE and Hemoglobin SO: – These types of sickle cell disease are rare and usually don’t have severe symptoms.
- Hemoglobin Sβ0 Thalassemia: – Sickle Sβ0 (beta zero) Thalassemia involves the beta-globin gene. It has similar symptoms to Hb SS anemia. However, sometimes the symptoms of beta zero thalassemias are more severe. It is associated with a poorer prognosis.
- Hemoglobin Sβ+ Thalassemia: – Hemoglobin Sβ+ (beta plus) Thalassemia affects beta-globin gene production. The size of the RBC is reduced because less beta protein is made. If inherited with the Hb S gene, you will have hemoglobin S beta-thalassemia. Symptoms are not as severe.
- Sickle Cell Trait: – People who only inherit a mutated gene (hemoglobin S) from one parent are said to have sickle cell trait. They may have no symptoms or reduced symptoms.
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Causes of Sickle Cell Disease:
Sickle Cell Disease is an inherited form of anemia which means it is passed from generation to generation called autosomal recessive inheritance. This means that both, the mother and the father must pass on the defective form of the gene for a child to be affected. If only one parent passes the sickle cell gene to the child, that child will have the sickle cell trait. With one normal hemoglobin gene and one defective form of the gene, people with the sickle cell trait make both normal hemoglobin and sickle cell hemoglobin. Their blood might contain some sickle cells, but they generally don’t have symptoms. But they are carriers of the disease, which means they can pass the gene to their children.
Sign & Symptoms of Sickle Cell Disease:
Signs & symptoms of sickle cell disease varies from person to person and changes over time. If a person has sickle cell disease, it is present at birth but most newborns do not have any problems from the disease until they are about 5 or 6 months of age but the parents are notified before the child has symptoms. Some children who have sickle cell disease will start to have problems early on, and some later. Early symptoms of sickle cell disease may include:
- Yellowish color of the skin, known as jaundice
- Whites of the eyes, known as icterus
- Fatigue or fussiness from anemia
- Painful swelling of the hands and feet, known as dactylitis
Some other symptoms are included:
- Skin ulcers
- Severe anemia
- Splenic sequestration
- Delayed growth
- Neurological complications
- Eye problems
- Hand-foot syndrome – Swollen hands & feet, leg ulcers
- Heart disease and chest syndrome
- Lung disease
Treatment of Sickle Cell Disease:
A blood and bone marrow transplant is currently the only cure for some patients who have sickle cell disease. After early diagnosis, your doctor may recommend medicines or transfusions to manage complications, including chronic pain. Blood transfusions improve transport of oxygen and nutrients as needed. Babies who have sickle cell disease may see a hematologist, a doctor who specializes in blood diseases such as sickle cell disease. For newborns, the first sickle cell disease visit should take place before 8 weeks of age.