Question 1

Laboratory findings in thalassemia often include which of the following?

Accepted Answer

A)  Microcytic hyperchromic anemia
B)  Microcytic hypochromic anemia
C)  Macrocytic hyperchromic anemia
D)  Macrocytic hypochromic anemiaE) A) and C)
F) A) and B)

Question 2

A fusion of delta and beta globin chains produces which of the following hemoglobins?

Accepted Answer

A)  Hemoglobin F
B)  Hemoglobin Lepore
C)  Hemoglobin Bart's
D)  Hemoglobin PortlandE) A) and B)
F) A) and C)

Question 3

The hemoglobin Constant Spring variant of alpha thalassemia is caused by:

Accepted Answer

A)  A gamma chain fused to an existing beta chain.
B)  A beta chain fused to an existing alpha chain.
C)  An elongated alpha chain.
D)  An elongated beta chain.E) A) and D)
F) B) and C)

Question 4

Impaired beta chain production translates to what on hemoglobin electrophoresis?

Accepted Answer

A)  An increase in Hb H
B)  An increase in Hb A1
C)  An increase in Hb F and Hb A2
D)  A decrease in Hb SE) None of the above
F) A) and B) C

Question 5

When three of the four alpha genes are deleted, the disorder is known as what?

Accepted Answer

A)  α-thalassemia
B)  β-thalassemia
C)  Hydrops fetalis
D)  Hemoglobin H diseaseE) B) and D)
F) B) and C)

Question 6

Thalessemia differs from hemoglobinopathies by what characteristic?

Accepted Answer

A)  The production of abnormal globin chains
B)  The point of genetic mutations
C)  Decreased synthesis of normal hemoglobin
D)  Qualitative defect in the globin structureE) B) and D)
F) A) and B)

Question 7

Correlate the mutation type to each of the disorders below:
A)Alpha thal major
B)Beta thal major
C)Alpha thal silent carrier

Accepted Answer

a.Alpha thal major: deletion
b...

Question 8

Hemoglobin H disease can be detected by which of the following laboratory methods?

Accepted Answer

A)  Complete blood count
B)  PB smear for Heinz bodies
C)  Bone marrow aspirate
D)  Brilliant cresyl blue staining for Hb H inclusionsE) C) and D)
F) None of the above

Question 9

What can explain the imbalanced synthesis of either the alpha or beta chain in thalassemia?

Accepted Answer

A)  Deletions of any of the gene clusters
B)  Abnormal production of gamma chains
C)  Presence of abnormal hemoglobin chains
D)  Continued synthesis of psilon and zeta production after birthE) None of the above
F) All of the above A

Question 10

A physician diagnoses a patient with iron-deficiency anemia, and begins treatment with iron supplementation.He scheduled a repeat appointment in six months that included routine blood work.Her blood work at this repeat appointment indicates a microcytic normochromic picture with elevated iron levels.Based on these findings, what should the doctor do next?

Accepted Answer

A)  Order a bone marrow aspirate.
B)  Order a hemoglobin electrophoresis.
C)  Order a repeat CBC.
D)  Repeat the iron studies.E) A) and B)
F) A) and C)

Question 11

What is the treatment of choice for thalassemias?

Accepted Answer

A)  Supportive transfusions
B)  Bone marrow transplant
C)  Chemotherapy
D)  RadiationE) B) and C)
F) A) and D)

Question 12

Why are thalassemias considered a separate entity from hemoglobinopathies?

Accepted Answer

Hemoglobinopathies result from...

Question 13

All of the following can lead to the development of thalassemias except:

Accepted Answer

A)  Deletion mutation.
B)  Substitution mutation.
C)  Exposure to a mutagenic agent.
D)  Frameshift mutation.E) None of the above
F) A) and C)

Question 14

The geographic prevalence of alpha thalassemia is greatest in people of this ancestry:

Accepted Answer

A)  Mediterranean, American Indians.
B)  Asian, Mediterranean, African.
C)  Canadian, African, Indian.
D)  South American, African, Asian.E) All of the above
F) None of the above

Question 15

Molecular analysis on a 4-month-old Chinese patient revealed three alpha genes deleted on chromosome 16.The physician ordered a hemoglobin electrophoresis on this patient.What would be the expected finding?

Accepted Answer

A)  80% F; 15% A1; 5% A2
B)  95% Hgb H
C)  95% Hgb Bart's
D)  80% A1; 10% F; 10% A2E) A) and B)
F) C) and D)

Question 16

Most defects in beta thalassemia are a result of what genetic defect?

Accepted Answer

A)  Loss of gene expression due ti promoter region methylation
B)  Point mutations in regions of the DNA controlling gene expression
C)  Deletion of the structural globin gene
D)  Omission of the alpha globin chainE) All of the above
F) None of the above

Question 17

What is another name for the phenotype of α-thalassemia major?

Accepted Answer

A)  Hemoglobin H disease
B)  Hydrops fetalis
C)  Silent carrier
D)  β-thalassemia majorE) A) and B)
F) A) and C)

Question 18

Nucleated red blood cells in the peripheral blood are a common finding in beta thalassemia patients.Explain why.

Accepted Answer

As a result of impaired globin chain syn...

Question 19

Why are bone changes and deformities common findings in beta thalassemias y?

Accepted Answer

A)  Because of increased globin chain synthesis
B)  The impaired globin chain synthesis causes erythroid hypoplasia.
C)  The impaired globin chain synthesis causes increased erythropoiesis resulting in bone marrow expansion.
D)  The impaired globin chain synthesis causes impaired oxygen delivery to the bone tissue, which causes bone deformities.E) None of the above
F) A) and B) C

Question 20

What test could provide the differential diagnosis between beta thalassemia minor and iron deficiency?

Accepted Answer

A)  PB smear
B)  Iron studies
C)  Hemoglobin electrophoresis
D)  Bone marrow aspirateE) B) and D)
F) A) and C)

Exam 11: Thalassemia

Laboratory findings in thalassemia often include which of the following?

Correct Answer
verified

A fusion of delta and beta globin chains produces which of the following hemoglobins?

Correct Answer
verified

The hemoglobin Constant Spring variant of alpha thalassemia is caused by:

Correct Answer
verified

Impaired beta chain production translates to what on hemoglobin electrophoresis?

Correct Answer
verified
C

When three of the four alpha genes are deleted, the disorder is known as what?

Correct Answer
verified

Thalessemia differs from hemoglobinopathies by what characteristic?

Correct Answer
verified

Correlate the mutation type to each of the disorders below: A)Alpha thal major B)Beta thal major C)Alpha thal silent carrier

Correct Answer
verified
a.Alpha thal major: deletion
b...
View Answer

Hemoglobin H disease can be detected by which of the following laboratory methods?

Correct Answer
verified

What can explain the imbalanced synthesis of either the alpha or beta chain in thalassemia?

Correct Answer
verified
A

Correct Answer
verified

What is the treatment of choice for thalassemias?

Correct Answer
verified

Why are thalassemias considered a separate entity from hemoglobinopathies?

Correct Answer
verified
Hemoglobinopathies result from...
View Answer

All of the following can lead to the development of thalassemias except:

Correct Answer
verified

The geographic prevalence of alpha thalassemia is greatest in people of this ancestry:

Correct Answer
verified

Molecular analysis on a 4-month-old Chinese patient revealed three alpha genes deleted on chromosome 16.The physician ordered a hemoglobin electrophoresis on this patient.What would be the expected finding?

Correct Answer
verified

Most defects in beta thalassemia are a result of what genetic defect?

Correct Answer
verified

What is another name for the phenotype of α-thalassemia major?

Correct Answer
verified

Nucleated red blood cells in the peripheral blood are a common finding in beta thalassemia patients.Explain why.

Correct Answer
verified
As a result of impaired globin chain syn...
View Answer

Why are bone changes and deformities common findings in beta thalassemias y?

Correct Answer
verified
C

What test could provide the differential diagnosis between beta thalassemia minor and iron deficiency?

Correct Answer
verified

Exam 11: Thalassemia

Laboratory findings in thalassemia often include which of the following?

Correct AnswerverifiedShow Answer

A fusion of delta and beta globin chains produces which of the following hemoglobins?

Correct AnswerverifiedShow Answer

The hemoglobin Constant Spring variant of alpha thalassemia is caused by:

Correct AnswerverifiedShow Answer

Impaired beta chain production translates to what on hemoglobin electrophoresis?

Correct AnswerverifiedC

When three of the four alpha genes are deleted, the disorder is known as what?

Correct AnswerverifiedShow Answer

Thalessemia differs from hemoglobinopathies by what characteristic?

Correct AnswerverifiedShow Answer

Correlate the mutation type to each of the disorders below: A)Alpha thal major B)Beta thal major C)Alpha thal silent carrier

Correct Answerverifieda.Alpha thal major: deletionb...View AnswerShow Answer

Hemoglobin H disease can be detected by which of the following laboratory methods?

Correct AnswerverifiedShow Answer

What can explain the imbalanced synthesis of either the alpha or beta chain in thalassemia?

Correct AnswerverifiedA

Correct AnswerverifiedShow Answer

What is the treatment of choice for thalassemias?

Correct AnswerverifiedShow Answer

Why are thalassemias considered a separate entity from hemoglobinopathies?

Correct AnswerverifiedHemoglobinopathies result from...View AnswerShow Answer

All of the following can lead to the development of thalassemias except:

Correct AnswerverifiedShow Answer

The geographic prevalence of alpha thalassemia is greatest in people of this ancestry:

Correct AnswerverifiedShow Answer

Molecular analysis on a 4-month-old Chinese patient revealed three alpha genes deleted on chromosome 16.The physician ordered a hemoglobin electrophoresis on this patient.What would be the expected finding?

Correct AnswerverifiedShow Answer

Most defects in beta thalassemia are a result of what genetic defect?

Correct AnswerverifiedShow Answer

What is another name for the phenotype of α-thalassemia major?

Correct AnswerverifiedShow Answer

Nucleated red blood cells in the peripheral blood are a common finding in beta thalassemia patients.Explain why.

Correct AnswerverifiedAs a result of impaired globin chain syn...View AnswerShow Answer

Why are bone changes and deformities common findings in beta thalassemias y?

Correct AnswerverifiedC

What test could provide the differential diagnosis between beta thalassemia minor and iron deficiency?

Correct AnswerverifiedShow Answer

Correct Answer
verified

Correct Answer
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Correct Answer
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Correct Answer
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C

Correct Answer
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Correct Answer
verified

Correct Answer
verified
a.Alpha thal major: deletion
b...
View Answer

Correct Answer
verified

Correct Answer
verified
A

Correct Answer
verified

Correct Answer
verified

Correct Answer
verified
Hemoglobinopathies result from...
View Answer

Correct Answer
verified

Correct Answer
verified

Correct Answer
verified

Correct Answer
verified

Correct Answer
verified

Correct Answer
verified
As a result of impaired globin chain syn...
View Answer

Correct Answer
verified
C

Correct Answer
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