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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

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</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</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</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</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</p> Signup and view all the answers

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

    <p>False</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</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</p> Signup and view all the answers

    Why do spherocytes die early?

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

    What is Gilbert's disease?

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

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

    <p>True</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</p> Signup and view all the answers

    What genetic condition can lead to defective spectrin dimer formation?

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

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

    <p>False</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</p> Signup and view all the answers

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

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

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

    <p>False</p> Signup and view all the answers

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

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

    What protein deficiency can lead to spherocytosis?

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

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

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

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

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

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

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

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

    <p>False</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</p> Signup and view all the answers

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

    <p>False</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</p> Signup and view all the answers

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

    Signup and view all the answers

    What is the cause of Hereditary elliptocytosis?

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

    What is the function of hepatic conjugation of bilirubin?

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

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

    <p>False</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</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</p> Signup and view all the answers

    What is the prevalence of Hereditary elliptocytosis?

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

    Which protein deficiency can lead to spherocytosis?

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

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

    Signup and view all the answers

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

    <p>True</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</p> Signup and view all the answers

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

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

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

    <p>False</p> Signup and view all the answers

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

    Signup and view all the answers

    What is the consequence of defective spectrin-ankyrin associations?

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

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

    <p>False</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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