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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 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?
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?
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
The inheritance of the condition is __________ dominant with variable expression; rarely it may be autosomal recessive. Answer: autosomal
True or false:The inheritance of the disease mentioned in the text is always autosomal dominant.
True or false:The inheritance of the disease mentioned in the text is always autosomal dominant.
What is the mode of inheritance for the condition discussed in the text?
What is the mode of inheritance for the condition discussed in the text?
What disorder has similar clinical and laboratory features to Hereditary spherocytosis but is usually milder?
What disorder has similar clinical and laboratory features to Hereditary spherocytosis but is usually milder?
Anemia can occur at any age between __________ and old age. Answer: infancy
Anemia can occur at any age between __________ and old age. Answer: infancy
What is the usual presentation of Hereditary elliptocytosis?
What is the usual presentation of Hereditary elliptocytosis?
At what age can anemia associated with the condition appear?
At what age can anemia associated with the condition appear?
How is the disorder usually discovered?
How is the disorder usually discovered?
What happens to red blood cells as they pass through the spleen and circulatory system?
What happens to red blood cells as they pass through the spleen and circulatory system?
True or false: Anemia only appears in individuals with this disease during infancy.
True or false: Anemia only appears in individuals with this disease during infancy.
True or false: The disorder discussed in the text is always clinically more severe than Hereditary spherocytosis.
True or false: The disorder discussed in the text is always clinically more severe than Hereditary spherocytosis.
Is there always evidence of haemolysis in individuals with this disorder?
Is there always evidence of haemolysis in individuals with this disorder?
Patients with haemolytic anaemia and Gilbert's disease often exhibit a changing __________. Answer: bilirubin
Patients with haemolytic anaemia and Gilbert's disease often exhibit a changing __________. Answer: bilirubin
What is the basic defect in Hereditary elliptocytosis?
What is the basic defect in Hereditary elliptocytosis?
Why do spherocytes die early?
Why do spherocytes die early?
True or false: The disorder discussed in the text is usually discovered by chance on a blood film.
True or false: The disorder discussed in the text is usually discovered by chance on a blood film.
What is Gilbert's disease?
What is Gilbert's disease?
True or false: Patients with Gilbert's disease may exhibit changing bilirubin levels.
True or false: Patients with Gilbert's disease may exhibit changing bilirubin levels.
What is the basic defect in individuals with this disorder?
What is the basic defect in individuals with this disorder?
What is the usual severity of Hereditary elliptocytosis?
What is the usual severity of Hereditary elliptocytosis?
What genetic condition can lead to defective spectrin dimer formation?
What genetic condition can lead to defective spectrin dimer formation?
True or false: Splenomegaly is not a common symptom in individuals with this disease.
True or false: Splenomegaly is not a common symptom in individuals with this disease.
Splenomegaly is seen in __________ individuals. Answer: most
Splenomegaly is seen in __________ individuals. Answer: most
True or false: Evidence of haemolysis is always present in the disorder discussed in the text.
True or false: Evidence of haemolysis is always present in the disorder discussed in the text.
What is a common symptom seen in most individuals with the condition?
What is a common symptom seen in most individuals with the condition?
Frequent __________ gallstones are a common occurrence. Answer: pigment
Frequent __________ gallstones are a common occurrence. Answer: pigment
Which of the following mutations can affect horizontal interactions in Hereditary elliptocytosis?
Which of the following mutations can affect horizontal interactions in Hereditary elliptocytosis?
True or false: The basic defect in the disorder discussed in the text is a failure of spectrin heterodimers to self associate into heterotetramers.
True or false: The basic defect in the disorder discussed in the text is a failure of spectrin heterodimers to self associate into heterotetramers.
What genetic mutations affect horizontal interactions in individuals with this disorder?
What genetic mutations affect horizontal interactions in individuals with this disorder?
What is the relationship between haemolytic anemia and pigment gallstones?
What is the relationship between haemolytic anemia and pigment gallstones?
True or false: Pigment gallstones are not frequently seen in individuals with this disease.
True or false: Pigment gallstones are not frequently seen in individuals with this disease.
What genetic condition can lead to defective spectrin-ankyrin associations?
What genetic condition can lead to defective spectrin-ankyrin associations?
How does this disorder differ from Hereditary spherocytosis?
How does this disorder differ from Hereditary spherocytosis?
True or false: The disorder discussed in the text is caused by a single genetic mutation affecting horizontal interactions.
True or false: The disorder discussed in the text is caused by a single genetic mutation affecting horizontal interactions.
What protein deficiency can lead to spherocytosis?
What protein deficiency can lead to spherocytosis?
Which of the following is not a type of Hereditary elliptocytosis?
Which of the following is not a type of Hereditary elliptocytosis?
True or false: Aplastic crises are never induced by parvovirus infection in individuals with this disease.
True or false: Aplastic crises are never induced by parvovirus infection in individuals with this disease.
Aplastic crises are often induced by __________ infection. Answer: parvovirus
Aplastic crises are often induced by __________ infection. Answer: parvovirus
What is an aplastic crisis?
What is an aplastic crisis?
What might be the reason that this disorder is usually a clinically milder disorder?
What might be the reason that this disorder is usually a clinically milder disorder?
What is the most common cause of aplastic crises associated with the condition?
What is the most common cause of aplastic crises associated with the condition?
True or false: The disorder discussed in the text is typically more severe than other red blood cell disorders.
True or false: The disorder discussed in the text is typically more severe than other red blood cell disorders.
The inheritance is __________ dominant with variable expression. Answer: autosomal
The inheritance is __________ dominant with variable expression. Answer: autosomal
True or false: The expression of the disease is always the same in individuals with autosomal dominant inheritance.
True or false: The expression of the disease is always the same in individuals with autosomal dominant inheritance.
What is the appearance of the blood film in Hereditary elliptocytosis?
What is the appearance of the blood film in Hereditary elliptocytosis?
What is the consequence of red blood cells losing their membrane?
What is the consequence of red blood cells losing their membrane?
What is the difference between autosomal dominant and autosomal recessive inheritance?
What is the difference between autosomal dominant and autosomal recessive inheritance?
Anemia can occur at any __________ between infancy and old age. Answer: age
Anemia can occur at any __________ between infancy and old age. Answer: age
Which of the following is not a symptom of Hereditary elliptocytosis?
Which of the following is not a symptom of Hereditary elliptocytosis?
True or false: Hereditary spherocytosis and the disorder discussed in the text have identical laboratory features.
True or false: Hereditary spherocytosis and the disorder discussed in the text have identical laboratory features.
True or false: Anemia can only occur in individuals with this disease during old age.
True or false: Anemia can only occur in individuals with this disease during old age.
What is the significance of spectrin heterodimers in individuals with this disorder?
What is the significance of spectrin heterodimers in individuals with this disorder?
Which genetic mutation is associated with hereditary elliptocytosis?
Which genetic mutation is associated with hereditary elliptocytosis?
True or false: Gilbert's disease is a result of liver damage.
True or false: Gilbert's disease is a result of liver damage.
What is the role of genetic mutations in this disorder?
What is the role of genetic mutations in this disorder?
What is the consequence of red blood cells becoming more spherical?
What is the consequence of red blood cells becoming more spherical?
Patients with haemolytic anaemia and Gilbert's disease often exhibit a __________ bilirubin. Answer: changing
Patients with haemolytic anaemia and Gilbert's disease often exhibit a __________ bilirubin. Answer: changing
What is the cause of Hereditary elliptocytosis?
What is the cause of Hereditary elliptocytosis?
What is the significance of variable expression in autosomal dominant inheritance?
What is the significance of variable expression in autosomal dominant inheritance?
True or false: The disorder discussed in the text is always diagnosed through a blood film.
True or false: The disorder discussed in the text is always diagnosed through a blood film.
__________ is seen in most individuals. Answer: Splenomegaly
__________ is seen in most individuals. Answer: Splenomegaly
What is the treatment for Hereditary elliptocytosis?
What is the treatment for Hereditary elliptocytosis?
What is the function of hepatic conjugation of bilirubin?
What is the function of hepatic conjugation of bilirubin?
True or false: Splenomegaly is only seen in some individuals with this disease.
True or false: Splenomegaly is only seen in some individuals with this disease.
Can this disorder be detected by laboratory tests?
Can this disorder be detected by laboratory tests?
True or false: The disorder discussed in the text is more common in females than males.
True or false: The disorder discussed in the text is more common in females than males.
What is the consequence of spherocytes not being able to cross the splenic microcirculation?
What is the consequence of spherocytes not being able to cross the splenic microcirculation?
What is the prevalence of Hereditary elliptocytosis?
What is the prevalence of Hereditary elliptocytosis?
Is this disorder commonly diagnosed or rare?
Is this disorder commonly diagnosed or rare?
What is the relationship between parvovirus infection and the condition discussed in the text?
What is the relationship between parvovirus infection and the condition discussed in the text?
Which protein deficiency can lead to spherocytosis?
Which protein deficiency can lead to spherocytosis?
Aplastic crises are often induced by __________ infection. Answer: parvovirus
Aplastic crises are often induced by __________ infection. Answer: parvovirus
True or false: Parvovirus infection can induce aplastic crises in individuals with this disease.
True or false: Parvovirus infection can induce aplastic crises in individuals with this disease.
True or false: The disorder discussed in the text is usually treated with a blood transfusion.
True or false: The disorder discussed in the text is usually treated with a blood transfusion.
Which of the following disorders has a similar basic defect as Hereditary elliptocytosis?
Which of the following disorders has a similar basic defect as Hereditary elliptocytosis?
True or false: The disorder discussed in the text can be caused by environmental factors.
True or false: The disorder discussed in the text can be caused by environmental factors.
The presence of Gilbert's disease causes a deficiency in hepatic conjugation of __________. Answer: bilirubin
The presence of Gilbert's disease causes a deficiency in hepatic conjugation of __________. Answer: bilirubin
What is the consequence of defective spectrin-ankyrin associations?
What is the consequence of defective spectrin-ankyrin associations?
True or false: Autosomal recessive inheritance is very common for this disease.
True or false: Autosomal recessive inheritance is very common for this disease.
Does this disorder have a specific name?
Does this disorder have a specific name?
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