Anemia Penyakit Sickle Cell

Summary

Sickle cell disease is a genetic disorder caused by a mutation in the beta-globin gene, leading to abnormal hemoglobin (HbS). This condition causes red blood cells to adopt a sickle shape, which can block blood vessels, leading to pain, organ damage, and anemia. The disease is inherited in an autosomal recessive pattern, meaning both parents must carry the gene for a child to be affected. Key factors like low oxygen, dehydration, and temperature changes can trigger the sickling of cells. Although most sickle cells return to normal after re-oxygenation, some remain permanently sickled, causing ongoing health complications.

Takeaways

• 😀 Sickle cell disease (SCD) is caused by a mutation in the gene that encodes hemoglobin.
• 😀 Hemoglobin is a protein in red blood cells responsible for transporting oxygen throughout the body.
• 😀 The mutation in SCD alters the sixth position amino acid in the beta-globin chain from glutamate to valine, creating Hemoglobin S (HbS).
• 😀 HbS causes red blood cells to deform into a sickle shape, which can block blood flow and lead to organ damage.
• 😀 The sickle-shaped cells are prone to clumping together when oxygen levels are low, leading to vascular occlusion and pain.
• 😀 Sickle cells break down faster than normal red blood cells, leading to anemia, specifically sickle cell anemia.
• 😀 Some sickle-shaped red blood cells can return to normal after reoxygenation and rehydration, but others may remain permanently deformed.
• 😀 Factors like low oxygen levels, low pH, dehydration, high plasma osmolarity, and low temperature can all trigger or worsen sickling.
• 😀 Sickle cell disease is inherited in an autosomal recessive pattern, meaning both parents must carry the sickle cell trait for a child to have the disease.
• 😀 The disease can cause recurrent pain crises, organ damage, and other long-term health complications, but with proper management, individuals can lead fulfilling lives.

Q & A

What is Sickle Cell Disease caused by?

Sickle Cell Disease is caused by a mutation in the gene that codes for hemoglobin, specifically the beta-globin polypeptide.

What is hemoglobin, and what is its function?

Hemoglobin is a protein found in red blood cells (erythrocytes) that functions to transport oxygen throughout the body.

How does the mutation in hemoglobin affect its structure?

The mutation causes a substitution of the amino acid glutamate with valine at position six of the beta-globin polypeptide, resulting in a mutated form of hemoglobin known as HbS (sickle hemoglobin).

What happens to the red blood cells when HbS is formed?

When HbS forms, the red blood cells become sickle-shaped instead of round, especially when oxygen levels drop. These sickle-shaped cells can block blood flow, leading to vascular occlusion and organ damage.

What are the consequences of sickle-shaped red blood cells?

Sickle-shaped cells can cause blockages in blood vessels, pain, organ infarction, and increased breakdown of red blood cells (hemolysis), leading to anemia.

Are sickle-shaped red blood cells permanent?

Not always. Some sickle-shaped cells can return to a normal shape after reoxygenation and rehydration, but others may permanently remain sickle-shaped due to damage to the cell membrane.

What factors influence the formation of sickle cells?

Factors such as low oxygen levels, low pH, dehydration, increased plasma osmolality, and low temperatures can all promote the formation of sickle cells.

Is Sickle Cell Disease a hereditary condition?

Yes, Sickle Cell Disease is a genetic condition inherited in an autosomal recessive manner, meaning a person must inherit the sickle cell gene from both parents to develop the disease.

What happens if only one parent passes on the sickle cell gene?

If only one parent passes on the sickle cell gene, the child will be a carrier of the sickle cell trait but will not have the disease.

Can Sickle Cell Disease be passed down through generations?

Yes, since Sickle Cell Disease is inherited in an autosomal recessive manner, it can be passed down to future generations if both parents carry the gene.