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Questions and Answers

True or false:The disorder discussed in the text has clinical and laboratory features similar to Hereditary spherocytosis.

True (A)

What disorder has similar clinical and laboratory features to Hereditary spherocytosis?

  • Hereditary elliptocytosis (correct)
  • Hereditary pyropoikilocytosis
  • Hereditary stomatocytosis
  • Hereditary xerocytosis

What is the consequence of lipid bilayer components not being maintained by the skeleton?

  • Membrane loss (correct)
  • Increased surface area
  • Decreased volume
  • Improved cell function

The inheritance of the condition is __________ dominant with variable expression; rarely it may be autosomal recessive. Answer: autosomal

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True or false:The inheritance of the disease mentioned in the text is always autosomal dominant.

<p>False (B)</p> Signup and view all the answers

What is the mode of inheritance for the condition discussed in the text?

<p>Autosomal dominant with variable expression (A)</p> Signup and view all the answers

What disorder has similar clinical and laboratory features to Hereditary spherocytosis but is usually milder?

<p>The disorder is characterized by a failure of spectrin heterodimers to self-associate into heterotetramers.</p> Signup and view all the answers

Anemia can occur at any age between __________ and old age. Answer: infancy

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What is the usual presentation of Hereditary elliptocytosis?

<p>Discovered by chance on a blood film (A)</p> Signup and view all the answers

At what age can anemia associated with the condition appear?

<p>At any age between infancy and old age (C)</p> Signup and view all the answers

How is the disorder usually discovered?

<p>The disorder is usually discovered by chance on a blood film.</p> Signup and view all the answers

What happens to red blood cells as they pass through the spleen and circulatory system?

<p>They become more spherical (A)</p> Signup and view all the answers

True or false: Anemia only appears in individuals with this disease during infancy.

<p>False (B)</p> Signup and view all the answers

True or false: The disorder discussed in the text is always clinically more severe than Hereditary spherocytosis.

<p>False (B)</p> Signup and view all the answers

Is there always evidence of haemolysis in individuals with this disorder?

<p>No, there may be no evidence of haemolysis in individuals with this disorder.</p> Signup and view all the answers

Patients with haemolytic anaemia and Gilbert's disease often exhibit a changing __________. Answer: bilirubin

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What is the basic defect in Hereditary elliptocytosis?

<p>A failure of spectrin heterodimers to self associate into heterotetramers (A)</p> Signup and view all the answers

Why do spherocytes die early?

<p>They cannot cross the splenic microcirculation (A)</p> Signup and view all the answers

True or false: The disorder discussed in the text is usually discovered by chance on a blood film.

<p>True (A)</p> Signup and view all the answers

What is Gilbert's disease?

<p>A deficiency in hepatic conjugation of bilirubin (A)</p> Signup and view all the answers

True or false: Patients with Gilbert's disease may exhibit changing bilirubin levels.

<p>True (A)</p> Signup and view all the answers

What is the basic defect in individuals with this disorder?

<p>The basic defect is a failure of spectrin heterodimers to self-associate into heterotetramers.</p> Signup and view all the answers

What is the usual severity of Hereditary elliptocytosis?

<p>Clinically milder (B)</p> Signup and view all the answers

What genetic condition can lead to defective spectrin dimer formation?

<p>Hereditary elliptocytosis (A)</p> Signup and view all the answers

True or false: Splenomegaly is not a common symptom in individuals with this disease.

<p>False (B)</p> Signup and view all the answers

Splenomegaly is seen in __________ individuals. Answer: most

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True or false: Evidence of haemolysis is always present in the disorder discussed in the text.

<p>False (B)</p> Signup and view all the answers

What is a common symptom seen in most individuals with the condition?

<p>An enlarged spleen (C)</p> Signup and view all the answers

Frequent __________ gallstones are a common occurrence. Answer: pigment

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Which of the following mutations can affect horizontal interactions in Hereditary elliptocytosis?

<p>Spectrin beta chain mutations (B)</p> Signup and view all the answers

True or false: The basic defect in the disorder discussed in the text is a failure of spectrin heterodimers to self associate into heterotetramers.

<p>True (A)</p> Signup and view all the answers

What genetic mutations affect horizontal interactions in individuals with this disorder?

<p>A number of genetic mutations affecting horizontal interactions can occur in individuals with this disorder.</p> Signup and view all the answers

What is the relationship between haemolytic anemia and pigment gallstones?

<p>Haemolytic anemia can cause pigment gallstones (B)</p> Signup and view all the answers

True or false: Pigment gallstones are not frequently seen in individuals with this disease.

<p>False (B)</p> Signup and view all the answers

What genetic condition can lead to defective spectrin-ankyrin associations?

<p>Hereditary elliptocytosis (A)</p> Signup and view all the answers

How does this disorder differ from Hereditary spherocytosis?

<p>This disorder has similar clinical and laboratory features to Hereditary spherocytosis except for the appearance of the blood film, and it is usually a clinically milder disorder.</p> Signup and view all the answers

True or false: The disorder discussed in the text is caused by a single genetic mutation affecting horizontal interactions.

<p>False (B)</p> Signup and view all the answers

What protein deficiency can lead to spherocytosis?

<p>Protein 4.1 deficiency (A)</p> Signup and view all the answers

Which of the following is not a type of Hereditary elliptocytosis?

<p>Hereditary spherocytosis (D)</p> Signup and view all the answers

True or false: Aplastic crises are never induced by parvovirus infection in individuals with this disease.

<p>False (B)</p> Signup and view all the answers

Aplastic crises are often induced by __________ infection. Answer: parvovirus

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What is an aplastic crisis?

<p>A condition where the bone marrow stops producing red blood cells (A)</p> Signup and view all the answers

What might be the reason that this disorder is usually a clinically milder disorder?

<p>The reason for this disorder being usually a clinically milder disorder is not mentioned in the text.</p> Signup and view all the answers

What is the most common cause of aplastic crises associated with the condition?

<p>A viral infection (B)</p> Signup and view all the answers

True or false: The disorder discussed in the text is typically more severe than other red blood cell disorders.

<p>False (B)</p> Signup and view all the answers

The inheritance is __________ dominant with variable expression. Answer: autosomal

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True or false: The expression of the disease is always the same in individuals with autosomal dominant inheritance.

<p>False (B)</p> Signup and view all the answers

What is the appearance of the blood film in Hereditary elliptocytosis?

<p>Oval cells (B)</p> Signup and view all the answers

What is the consequence of red blood cells losing their membrane?

<p>They become more spherical (A)</p> Signup and view all the answers

What is the difference between autosomal dominant and autosomal recessive inheritance?

<p>Autosomal dominant inheritance means that the gene is always expressed, while autosomal recessive inheritance means that the gene is only expressed if both copies are present (C)</p> Signup and view all the answers

Anemia can occur at any __________ between infancy and old age. Answer: age

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Which of the following is not a symptom of Hereditary elliptocytosis?

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

True or false: Hereditary spherocytosis and the disorder discussed in the text have identical laboratory features.

<p>False (B)</p> Signup and view all the answers

True or false: Anemia can only occur in individuals with this disease during old age.

<p>False (B)</p> Signup and view all the answers

What is the significance of spectrin heterodimers in individuals with this disorder?

<p>In individuals with this disorder, spectrin heterodimers fail to self-associate into heterotetramers, which is the basic defect.</p> Signup and view all the answers

Which genetic mutation is associated with hereditary elliptocytosis?

<p>α- or β-spectrin mutants (A)</p> Signup and view all the answers

True or false: Gilbert's disease is a result of liver damage.

<p>False (B)</p> Signup and view all the answers

What is the role of genetic mutations in this disorder?

<p>Genetic mutations affecting horizontal interactions can occur in individuals with this disorder, leading to its development.</p> Signup and view all the answers

What is the consequence of red blood cells becoming more spherical?

<p>Loss of surface area relative to volume (A)</p> Signup and view all the answers

Patients with haemolytic anaemia and Gilbert's disease often exhibit a __________ bilirubin. Answer: changing

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What is the cause of Hereditary elliptocytosis?

<p>Inherited genetic mutations (A)</p> Signup and view all the answers

What is the significance of variable expression in autosomal dominant inheritance?

<p>It means that the severity of the condition can vary among individuals who inherit the gene (C)</p> Signup and view all the answers

True or false: The disorder discussed in the text is always diagnosed through a blood film.

<p>False (B)</p> Signup and view all the answers

__________ is seen in most individuals. Answer: Splenomegaly

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What is the treatment for Hereditary elliptocytosis?

<p>Splenectomy (B)</p> Signup and view all the answers

What is the function of hepatic conjugation of bilirubin?

<p>To break down red blood cells (B)</p> Signup and view all the answers

True or false: Splenomegaly is only seen in some individuals with this disease.

<p>False (B)</p> Signup and view all the answers

Can this disorder be detected by laboratory tests?

<p>Yes, this disorder can be detected by laboratory tests through the appearance of the blood film.</p> Signup and view all the answers

True or false: The disorder discussed in the text is more common in females than males.

<p>False (B)</p> Signup and view all the answers

What is the consequence of spherocytes not being able to cross the splenic microcirculation?

<p>They die early (A)</p> Signup and view all the answers

What is the prevalence of Hereditary elliptocytosis?

<p>1 in 10,000 (B)</p> Signup and view all the answers

Is this disorder commonly diagnosed or rare?

<p>The text does not provide information on the commonality or rarity of this disorder.</p> Signup and view all the answers

What is the relationship between parvovirus infection and the condition discussed in the text?

<p>Parvovirus infection can cause the condition (B)</p> Signup and view all the answers

Which protein deficiency can lead to spherocytosis?

<p>Protein 4.1 deficiency (A)</p> Signup and view all the answers

Aplastic crises are often induced by __________ infection. Answer: parvovirus

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True or false: Parvovirus infection can induce aplastic crises in individuals with this disease.

<p>True (A)</p> Signup and view all the answers

True or false: The disorder discussed in the text is usually treated with a blood transfusion.

<p>False (B)</p> Signup and view all the answers

Which of the following disorders has a similar basic defect as Hereditary elliptocytosis?

<p>Hereditary stomatocytosis (C)</p> Signup and view all the answers

True or false: The disorder discussed in the text can be caused by environmental factors.

<p>False (B)</p> Signup and view all the answers

The presence of Gilbert's disease causes a deficiency in hepatic conjugation of __________. Answer: bilirubin

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What is the consequence of defective spectrin-ankyrin associations?

<p>Hereditary elliptocytosis (A)</p> Signup and view all the answers

True or false: Autosomal recessive inheritance is very common for this disease.

<p>False (B)</p> Signup and view all the answers

Does this disorder have a specific name?

<p>The text does not mention a specific name for this disorder.</p> Signup and view all the answers

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