Sickle Cell Anaemia

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Sickle Cell Anaemia

1. AIM

To study the signs, symptoms, genetic nature, and progression of Sickle Cell Anaemia (SSA), with a focus on bone marrow transplantation as a potential cure.

2. WHAT IS SICKLE CELL ANAEMIA?

Sickle Cell Anaemia is a genetic disorder that affects red blood cells (RBCs), causing them to lose their normal disc shape.
Instead of the usual 120-day lifespan, these cells break down prematurely—often within 30-40 days.
RBCs take on a sickle shape, leading to blockages in blood vessels. This disrupts oxygen supply to tissues, resulting in sudden, severe pain called a Sickle Cell Crisis.
The disease is caused by abnormal hemoglobin (HbS), which leads to fragile, sickle-shaped RBCs that break apart easily, causing anemia.

3. A BRIEF HISTORY OF THE DISCOVERY OF SICKLE CELL ANAEMIA

1910 is recognized as the year of discovery, though the disease existed in Africa for thousands of years.
The disease was first identified in the U.S. by Dr. James B. Herrick, after his resident Dr. Ernest Irons observed sickle-shaped cells in the blood of Walter Clement Noel, a dental student from Grenada.
Herrick published the first medical description of sickle-shaped cells, marking the official discovery.

4. SICKLE CELL ANAEMIA AS A GENETIC DISORDER

Sickle Cell Anaemia is an autosomal recessive disorder, meaning both parents must carry the sickle cell gene to pass it on to their offspring.
It is caused by a mutation in the hemoglobin gene, where glutamic acid is replaced by valine at the sixth position of the beta-globin chain.
This results in abnormal hemoglobin (HbS), which polymerizes under low oxygen conditions, leading to the sickling of RBCs.

5. SYMPTOMS OF SICKLE CELL ANAEMIA

Anemia: Sickle cells break down prematurely, leading to a shortage of RBCs and causing fatigue.
Pain Crises: Blocked blood flow due to sickle-shaped cells causes intense pain, especially in the chest, abdomen, and joints.
Swelling: Hands and feet may swell due to blocked blood flow.
Infections: Damaged spleen increases vulnerability to infections.
Delayed Growth: Reduced oxygen and nutrient supply can slow growth in children.
Vision Problems: Blocked blood vessels in the eyes can cause damage to the retina, leading to vision issues.

6. WHAT CONDITIONS PROMOTE DISTORTION OF RED BLOOD CELLS?

Factors such as low oxygen levels, dehydration, and increased acidity can promote RBC sickling.
Organs with high oxygen demand (brain, muscles) or slow-moving blood (spleen, liver) are particularly susceptible to damage in sickle cell patients.

7. DIFFERENCE BETWEEN SICKLE CELL ANAEMIA AND SICKLE CELL TRAIT

Sickle Cell Trait: A person has one normal and one faulty hemoglobin gene, but does not develop the disease.
Sickle Cell Anaemia: Occurs when a person inherits two faulty genes, leading to sickle cell disease.
Individuals with the trait can pass the gene to their children. If both parents have the trait, there is a 25% chance their child will have sickle cell anaemia.

8. HOW IS SICKLE CELL CRISIS TREATED?

Treatment for Crisis: Patients are treated with fluids, painkillers, and sometimes blood transfusions.
Managing Fatigue: Sickle cell anemia causes chronic fatigue due to the rapid breakdown of RBCs. The body tries to compensate by producing more RBCs, but infections can halt this process, leading to aplastic crises.
Pain Management: Pain crises caused by blocked blood flow require pain medication, fluids, and in severe cases, blood transfusions.
Hydroxyurea: A medication that helps reduce the frequency of crises by increasing fetal hemoglobin levels, which is resistant to sickling.

9. WHAT IS THE OUTLOOK FOR SICKLE CELL ANAEMIA? CAN IT BE CURED?

Life expectancy for individuals with sickle cell anaemia is reduced, but with proper care, many can live beyond their 40s.
Major complications include pain crises, organ damage, and infections.
Research is focusing on gene therapy and bone marrow transplantation, both of which offer hope for a future cure.

10. CONCLUSION

This study provided insights into the genetic disorder Sickle Cell Anaemia, highlighting its symptoms, the challenges faced by patients, and the potential treatments available. Bone marrow transplantation shows promise as a cure, but continued research is necessary to improve treatment options and find a lasting solution for this debilitating condition.