Sickle Cell Anemia - Causes, Symptoms, Treatment | Sickle Vs Normal Cell скачать в хорошем качестве

Sickle Cell Anemia - Causes, Symptoms, Treatment | Sickle Vs Normal Cell

What is Sickle Cell Anemia? It is a genetic blood disorder caused by abnormal red blood cells due to a gene mutation in beta globin chain of hemoglobin. The HBB gene called (Hemoglobin Subunit Beta) present on chromosome number 11 at locus p15.5 provides instructions for making the beta-globin protein, a component of hemoglobin found in red blood cells. So, it is an autosomal trait not sex linked and can equally spread in men and women. Sickle Cell Mutation: In this mutation, glutamic acid in normal chain is replaced by valine at 6th position during beta globin translation which enhances polymerization of hemoglobin molecules to form long chains which result in sickle or crescent shape of Red Blood Cells. This sickle shape produces many problems in normal blood flow in capillaries and hence the disease is called sickle cell. The word anemia means the sickle shaped cells lose the normal capability to perform what normal cells do and has short life span causing blood or hemoglobin deficiency and overall performance of blood is low. That’s why it is called anemia. If we talk about inheritance pattern then it is an autosomal recessive trait which means if both alleles of homologous pair are mutated then individual will be affected and if someone receive only one of the two alleles then he/she will be carrier of diseases. Inheritance Patterns of Sickle Cell Anemia: Example Discussed Comparison of a Sickle Cell and Normal Blood Cell 1. Shape: Normal RBCs are round, disc-like cells, while sickle cell anemia cells have a characteristic crescent or sickle shape. 2. Flexibility: Normal RBCs are highly flexible, allowing them to easily move through narrow blood vessels. Sickle cell anemia cells are rigid and less flexible, leading to difficulties in passing through blood vessels. 3. Lifespan: Normal RBCs have a lifespan of approximately 120 days, while sickle cell anemia cells have a significantly shorter lifespan, usually around 10-20 days. 4. Hemoglobin composition: Normal RBCs contain hemoglobin A, which efficiently binds with oxygen. In contrast, sickle cell anemia cells contain abnormal hemoglobin S, which can polymerize and cause the cell to deform under certain conditions. 5. Clumping: Sickle cell anemia cells tend to clump together, causing blockages in blood vessels, reducing blood flow, and leading to tissue damage and pain 6. Oxygen-carrying capacity: Both normal and sickle cell anemia cells carry oxygen, but sickle cells have a reduced oxygen-carrying capacity due to their abnormal shape and reduced ability to bind to oxygen. 7. Spleen function: The spleen is responsible for filtering and removing damaged RBCs from circulation. In sickle cell anemia, the spleen can become enlarged and dysfunctional due to the breakdown of sickle cells, leading to increased susceptibility to infections. 8. Organ damage: The abnormal shape and reduced lifespan of sickle cells can lead to damage in various organs, particularly the spleen, liver, bones, and kidneys. This comparison is very important to remember for you. Now let’s talk about some signs and symptoms which help to diagnose whether someone has sickle cell anemia or not Signs and Symptoms of Sickle Cell Anemia: 1. Fatigue: Sickle cells have a reduced lifespan, leading to a lower number of circulating RBCs, causing anemia. Anemia results in reduced oxygen delivery to tissues, leading to fatigue and weakness. 2. Pain Crises: Sickle cells can become stuck in small blood vessels, leading to blockages and reduced blood flow. These blockages can cause episodes of severe pain known as "sickle cell crises." Pain can occur in the bones, chest, abdomen, and joints. 3. Jaundice: Sickle cells are fragile and easily break apart, releasing hemoglobin. The breakdown of hemoglobin results in an excess of bilirubin, leading to jaundice, which causes a yellowish discoloration of the skin and eyes. 4. Swelling of Hands and Feet: Blocked blood flow can lead to swelling in the hands and feet, particularly in young children with sickle cell anemia. 5. Enlarged Spleen: Sickle cells can become trapped and destroyed in the spleen, leading to its enlargement (splenomegaly) and impairing its ability to filter blood. 6. Vision Problems: Sickle cells can block blood vessels in the eye, leading to vision problems and potentially causing retinal damage. 7. Leg Ulcers: Sickle cells can cause damage to the skin, leading to the formation of painful ulcers, usually on the legs. 8. Delayed Growth and Development: Chronic anemia and reduced oxygen supply can impair growth and development in children with sickle cell anemia Treatment of Sickle Cell Anemia: 1. Pain Management: 2. Hydroxyurea: 3. Blood Transfusions: 4. Hematopoietic Stem Cell Transplant (Bone Marrow Transplant): 5. Gene Therapy: 6. Antibiotics and Vaccinations: 7. Oxygen Therapy: 8. Folic Acid Supplements: #sicklecellanaemia #sicklecellanemia #sicklecelldisease