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Sickle cell anaemia is:
[2009]
- a)caused by a change in a single base pair of DNA
- b)caused by substitution of glutamic acid by valine in the beta globin chain of haemoglobin
- c)characterized by elongated sickle like RBCs with a nucleus
- d)an autosomal linked dominant trait
Correct answer is option 'B'. Can you explain this answer?
Verified Answer
Sickle cell anaemia is:[2009]a)caused by a change in a single base pai...
Sickle cell anaemia is caused by a change in a single base pair of DNA. Sickle-cell anaemia is the name of a specific form of sickle-cell disease in which there is homozygosity for the mutation that causes HbS. Sickle-cell disease, or sicklecell anaemia (or drepanocytosis), is a life-long blood disorder characterized by red blood cells that assume an abnormal, rigid, sickle shape. Sickling decreases the cells flexibility and results in a risk of various complications. ‘
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Sickle cell anaemia is:[2009]a)caused by a change in a single base pai...
Sickle cell anemia is one of a group of disorders known as sickle cell disease. Sickle cell anemia is an inherited red blood cell disorder in which there aren't enough healthy red blood cells to carry oxygen throughout your body.
Normally, the flexible, round red blood cells move easily through blood vessels. In sickle cell anemia, the red blood are shaped like sickles or crescent moons. These rigid, sticky cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body.There's no cure for most people with sickle cell anemia. But treatments can relieve pain and help prevent complications associated with the disease.Signs and symptoms of sickle cell anemia usually appear around 5 months of age. They vary from person to person and change over time. Signs and symptoms can include:
1.Anemia. Sickle cells break apart easily and die, leaving you with too few red blood cells. Red blood cells usually live for about 120 days before they need to be replaced. But sickle cells usually die in 10 to 20 days, leaving a shortage of red blood cells (anemia).
Without enough red blood cells, your body can't get enough oxygen, causing fatigue
2.Episodes of pain. Periodic episodes of 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. Pain can also occur in your bones.
3.Swelling of hands and feet. The swelling is caused by sickle-shaped red blood cells blocking blood flow to the hands and feet.
4.Frequent infections. Sickle cells can damage your spleen, leaving you more vulnerable to infections. Doctors commonly give infants and children with sickle cell anemia vaccinations and antibiotics to prevent potentially life-threatening infections, such as pneumonia.
5.Vision problems. Tiny blood vessels that supply your 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
Normally, the flexible, round red blood cells move easily through blood vessels. In sickle cell anemia, the red blood are shaped like sickles or crescent moons. These rigid, sticky cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body.There's no cure for most people with sickle cell anemia. But treatments can relieve pain and help prevent complications associated with the disease.Signs and symptoms of sickle cell anemia usually appear around 5 months of age. They vary from person to person and change over time. Signs and symptoms can include:
1.Anemia. Sickle cells break apart easily and die, leaving you with too few red blood cells. Red blood cells usually live for about 120 days before they need to be replaced. But sickle cells usually die in 10 to 20 days, leaving a shortage of red blood cells (anemia).
Without enough red blood cells, your body can't get enough oxygen, causing fatigue
2.Episodes of pain. Periodic episodes of 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. Pain can also occur in your bones.
3.Swelling of hands and feet. The swelling is caused by sickle-shaped red blood cells blocking blood flow to the hands and feet.
4.Frequent infections. Sickle cells can damage your spleen, leaving you more vulnerable to infections. Doctors commonly give infants and children with sickle cell anemia vaccinations and antibiotics to prevent potentially life-threatening infections, such as pneumonia.
5.Vision problems. Tiny blood vessels that supply your 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
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Sickle cell anaemia is:[2009]a)caused by a change in a single base pai...
Sickle cell anaemia is caused by substitution of glutamic acid by valine in the beta globin chain of haemoglobin.
Sickle cell anaemia is a genetic disorder that affects the structure and function of red blood cells. It is caused by a specific mutation in the beta globin gene, which encodes one of the subunits of haemoglobin.
Understanding the mutation:
The mutation responsible for sickle cell anaemia is a single nucleotide substitution in the DNA sequence of the beta globin gene. Specifically, the codon that codes for the amino acid glutamic acid is changed to a codon that codes for the amino acid valine. This change occurs due to a point mutation where a single base pair in the DNA is altered.
Effects on haemoglobin structure:
Haemoglobin is a protein found in red blood cells that is responsible for carrying oxygen throughout the body. It is composed of four subunits, two alpha globin chains and two beta globin chains. In individuals with sickle cell anaemia, the mutation in the beta globin gene leads to the production of abnormal beta globin chains.
The substitution of glutamic acid by valine in the beta globin chain causes the haemoglobin molecules to become less flexible and more prone to forming aggregates when the oxygen level is low. This results in the formation of long, rigid strands of haemoglobin, distorting the shape of red blood cells and giving them a sickle-like appearance. These abnormal red blood cells are less efficient at carrying oxygen and have a shorter lifespan, leading to various complications associated with sickle cell anaemia.
Mode of inheritance:
Sickle cell anaemia is an autosomal recessive disorder, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease. If an individual inherits only one copy of the mutated gene, they are said to be carriers or have sickle cell trait. Carriers usually do not exhibit symptoms of the disease but can pass the mutated gene on to their offspring.
In conclusion, sickle cell anaemia is caused by a specific mutation in the beta globin gene, resulting in the substitution of glutamic acid by valine in the beta globin chain of haemoglobin. This mutation leads to the formation of abnormal haemoglobin molecules and sickle-shaped red blood cells, causing the symptoms and complications associated with the disease.
Sickle cell anaemia is a genetic disorder that affects the structure and function of red blood cells. It is caused by a specific mutation in the beta globin gene, which encodes one of the subunits of haemoglobin.
Understanding the mutation:
The mutation responsible for sickle cell anaemia is a single nucleotide substitution in the DNA sequence of the beta globin gene. Specifically, the codon that codes for the amino acid glutamic acid is changed to a codon that codes for the amino acid valine. This change occurs due to a point mutation where a single base pair in the DNA is altered.
Effects on haemoglobin structure:
Haemoglobin is a protein found in red blood cells that is responsible for carrying oxygen throughout the body. It is composed of four subunits, two alpha globin chains and two beta globin chains. In individuals with sickle cell anaemia, the mutation in the beta globin gene leads to the production of abnormal beta globin chains.
The substitution of glutamic acid by valine in the beta globin chain causes the haemoglobin molecules to become less flexible and more prone to forming aggregates when the oxygen level is low. This results in the formation of long, rigid strands of haemoglobin, distorting the shape of red blood cells and giving them a sickle-like appearance. These abnormal red blood cells are less efficient at carrying oxygen and have a shorter lifespan, leading to various complications associated with sickle cell anaemia.
Mode of inheritance:
Sickle cell anaemia is an autosomal recessive disorder, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease. If an individual inherits only one copy of the mutated gene, they are said to be carriers or have sickle cell trait. Carriers usually do not exhibit symptoms of the disease but can pass the mutated gene on to their offspring.
In conclusion, sickle cell anaemia is caused by a specific mutation in the beta globin gene, resulting in the substitution of glutamic acid by valine in the beta globin chain of haemoglobin. This mutation leads to the formation of abnormal haemoglobin molecules and sickle-shaped red blood cells, causing the symptoms and complications associated with the disease.
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Sickle cell anaemia is:[2009]a)caused by a change in a single base pair of DNAb)caused by substitution of glutamic acid by valine in the beta globin chain of haemoglobinc)characterized by elongated sickle like RBCs with a nucleusd)an autosomal linked dominant traitCorrect answer is option 'B'. Can you explain this answer? for NEET 2025 is part of NEET preparation. The Question and answers have been prepared according to the NEET exam syllabus. Information about Sickle cell anaemia is:[2009]a)caused by a change in a single base pair of DNAb)caused by substitution of glutamic acid by valine in the beta globin chain of haemoglobinc)characterized by elongated sickle like RBCs with a nucleusd)an autosomal linked dominant traitCorrect answer is option 'B'. Can you explain this answer? covers all topics & solutions for NEET 2025 Exam. Find important definitions, questions, meanings, examples, exercises and tests below for Sickle cell anaemia is:[2009]a)caused by a change in a single base pair of DNAb)caused by substitution of glutamic acid by valine in the beta globin chain of haemoglobinc)characterized by elongated sickle like RBCs with a nucleusd)an autosomal linked dominant traitCorrect answer is option 'B'. Can you explain this answer?.
Sickle cell anaemia is:[2009]a)caused by a change in a single base pair of DNAb)caused by substitution of glutamic acid by valine in the beta globin chain of haemoglobinc)characterized by elongated sickle like RBCs with a nucleusd)an autosomal linked dominant traitCorrect answer is option 'B'. Can you explain this answer? for NEET 2025 is part of NEET preparation. The Question and answers have been prepared according to the NEET exam syllabus. Information about Sickle cell anaemia is:[2009]a)caused by a change in a single base pair of DNAb)caused by substitution of glutamic acid by valine in the beta globin chain of haemoglobinc)characterized by elongated sickle like RBCs with a nucleusd)an autosomal linked dominant traitCorrect answer is option 'B'. Can you explain this answer? covers all topics & solutions for NEET 2025 Exam. Find important definitions, questions, meanings, examples, exercises and tests below for Sickle cell anaemia is:[2009]a)caused by a change in a single base pair of DNAb)caused by substitution of glutamic acid by valine in the beta globin chain of haemoglobinc)characterized by elongated sickle like RBCs with a nucleusd)an autosomal linked dominant traitCorrect answer is option 'B'. Can you explain this answer?.
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