Albinism: Genetic Condition Quiz

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Questions and Answers

Which of the following genetic conditions causes a lack of pigmentation in the skin, hair, and eyes?

  • Sickle cell anemia
  • Cystic fibrosis
  • Mutation albinism (correct)
  • Marfan syndrome

What is the genetic condition characterized by a lack of melanin production?

  • Mutation albinism (correct)
  • Erythropoiesis
  • Alkaptonuria
  • Hemochromatosis

What is the term used to describe the absence of melanin production in the body?

  • Xeroderma
  • Osteogenesis imperfecta
  • Mutation albinism (correct)
  • Dysautonomia

Which genetic disorder results in a complete or partial absence of pigment in the skin, hair, and eyes?

<p>Mutation albinism (D)</p> Signup and view all the answers

Which structural abnormality is characteristic of red blood cells in sickle cell anemia?

<p>Loss of biconcave shape and development of a crescent or sickle shape (A)</p> Signup and view all the answers

What is the primary genetic cause of sickle cell anemia?

<p>Substitution of adenine for thymine in the beta-globin gene (A)</p> Signup and view all the answers

Which type of genetic inheritance pattern is associated with sickle cell anemia?

<p>Autosomal recessive inheritance (A)</p> Signup and view all the answers

What health complication can arise from sickle cell anemia due to the abnormal shape of red blood cells?

<p>Obstruction of small blood vessels leading to tissue damage and pain crises (B)</p> Signup and view all the answers

What is the primary genetic cause of sickle cell anemia?

<p>Point mutation in the HBB gene (B)</p> Signup and view all the answers

How does sickle cell anemia affect the shape of red blood cells?

<p>It causes the red blood cells to become elongated and pointed (B)</p> Signup and view all the answers

Which health complications can arise from sickle cell anemia?

<p>Higher susceptibility to bacterial infections (B)</p> Signup and view all the answers

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Study Notes

Albinism

  • Causes a lack of pigmentation in the skin, hair, and eyes due to a lack of melanin production
  • Characterized by a complete or partial absence of melanin production in the body

Sickle Cell Anemia

  • Results in a complete or partial absence of pigment in the skin, hair, and eyes
  • Characterized by a structural abnormality of red blood cells, specifically a sickle shape
  • Primary genetic cause is a mutation in the HBB gene
  • Inheritance pattern is autosomal recessive
  • Abnormal shape of red blood cells can lead to health complications such as
    • Blood clots
    • Infections
    • Organ failure
    • Stroke
    • Increased risk of infections
    • Jaundice
    • Fatigue
    • Pain episodes
    • Delayed growth and development
    • Vision problems
    • Increased risk of gallstones
    • Increased risk of pulmonary hypertension

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