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1. BIOLOGY INVESTIGATORY PROJECT TOPIC- SICKLE CELL ANEMIA

2. INDEX INTRODUCTION CAUSES SYMPTOMS DIAGNOSIS TREAREMENT PREVENTION STEPS BY GOVERNMENT CONCLUSION

3. INTRODUCTION Sickle cell disease (SCD) is a group of inherited red blood cell disorders. Red blood cells contain hemoglobin, a protein that carries oxygen. Healthy red blood cells are round, and they move through small blood vessels to carry oxygen to all parts of the body. In someone who has SCD, the hemoglobin is abnormal, which causes the red blood cells to become hard and sticky and look like a C-shaped farm tool called a “sickle.” The sickle cells die early, which causes a constant shortage of red blood cells. Also, when they travel through small blood vessels, they get stuck and clog the blood flow. This can cause pain and other serious complications (health problems) such as infection, acute chest syndrome and stroke.

4. CAUSES Sickle cell disease occurs when a person inherits two abnormal copies of the  β-globin gene  ( HBB ) that makes haemoglobin , one from each parent. This gene occurs in  chromosome 11 .   Several subtypes exist, depending on the exact  mutation  in each haemoglobin gene. An attack can be set off by temperature changes, stress,  dehydration , and high altitude. A person with a single abnormal copy does not usually have symptoms and is said to have  sickle cell trait .  Such people are also referred to as  carriers .  

5. SYMPTOMS Signs and symptoms of sickle cell anemia usually appear around 6 months of age. They vary from person to person and may change over time. Signs and symptoms can include : Anaemia- Red blood cells usually live for about 120 days before they need to be replaced. But sickle cells typically die in 10 to 20 days, leaving a shortage of red blood cells (anemia). Without enough red blood cells, the body can't get enough oxygen and this causes fatigue . Swelling of hands and feet.  The swelling is caused by sickle-shaped red blood cells blocking blood circulation in the hands and feet. Frequent infections.  Sickle cells can damage the spleen, increasing vulnerability to infections. Infants and children with sickle cell anemia commonly receive vaccinations and antibiotics to prevent potentially life-threatening infections, such as pneumonia. Delayed growth or puberty.  Red blood cells provide the body with the oxygen and nutrients needed for growth. A shortage of healthy red blood cells can slow growth in infants and children and delay puberty in teenagers. Vision problems.  Tiny blood vessels that supply the eyes can become plugged with sickle cells. This can damage the retina — the portion of the eye that processes visual images — and lead to vision problems.

6. Episodes of pain.  Periodic episodes of extreme pain, called pain crises, are a major symptom of sickle cell anemia. Pain develops when sickle-shaped red blood cells block blood flow through tiny blood vessels to your chest, abdomen and joints.

7. DIAGNOSIS Seek emergency care for symptoms of stroke, which include: One-sided paralysis or weakness in the face, arms or legs Confusion Difficulty walking or talking Sudden vision changes Unexplained numbness Severe headache High Fever TREATEMENT There is no cure for sickle cell anemia. However, stem cell or bone marrow transplants can cure the disease, but these come with several risks.

8. PREVENTION There are simple steps that people with SCD can take to help prevent and reduce the occurrence of pain crises, including the following: Drink plenty of water. Try not to get too hot or too cold. Try to avoid places or situations that cause exposure to high altitudes (for example, flying, mountain climbing, or cities with a high altitude). Try to avoid places or situations with exposure to low oxygen levels (for example, mountain climbing or exercising extremely hard, such as in military boot camp or when training for an athletic competition).

9. STEPS BY GOVERNMENT Sickle cell disease is common in some ethnic groups of central India, [139]  where the prevalence has ranged from 9.4 to 22.2% in endemic areas of  Madhya Pradesh ,  Rajasthan , and  Chhattisgarh Union Budget 2023 presentation on Wednesday, Finance Minister Nirmala Sitharaman announced  a mission to eliminate sickle cell anemia by the year 2047 . The finance minister said that the program will entail awareness creation and universal screening of 7 crore people in the age group of 0-40 years in affected tribal areas . Counselling sessions through collaborative efforts of central ministries and state governments, added Nirmala Sitharaman .

10. CONCLUSION Sickle cells that block blood flow to organs  deprive the affected organs of blood and oxygen . In sickle cell anemia, blood is also chronically low in oxygen. This lack of oxygen-rich blood can damage nerves and organs, including kidneys, liver and spleen, and can be fatal. Hence, sickle cell disease is a very critical condition and its spread is needed to be stopped

11. THANK YOU BY ADITYA NARAYAN SINGH XI B ROLL NO 09