Question 1

Thalassemias are defined as:

Accepted Answer

A)   Qualitative defects in globin chain synthesis
B)   Quantitative defects in globin chain synthesis
C)   Kinetic defects of iron in heme synthesis
D)   Structural defects in heme synthesisE) A) and C)
F) None of the above B

Question 2

The geographic prevalence of -thalassemia is highest in which ancestry group?

Accepted Answer

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

Question 3

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 studiesE) All of the above
F) C) and D)

Question 4

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

Accepted Answer

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

Question 5

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 B)
F) A) and D)

Question 6

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) B) and D)
F) A) and C)

Question 7

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) B) and D)
F) All of the above

Question 8

List the predominating hemoglobins in each of the following disorders:
a. Hgb H disease
b. α-thalassemia minor
c. β-thalassemia major
d. β-thalassemia intermedia

Accepted Answer

a. Hgb H disease: Hb H in adul...

Question 9

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

Accepted Answer

A)   Loss of gene expression because of 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) C) and D)
F) A) and C)

Question 10

When a diagnosis of thalassemia is suspected, which test should always be done?

Accepted Answer

A)   Hemoglobin electrophoresis
B)   Bone marrow aspiration
C)   Iron studies
D)   Vitamin B12 assayE) A) and B)
F) B) and C)

Question 11

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) B) and C)
F) C) and D)

Question 12

What test could provide the diagnosis differential for -thalassemia minor and iron deficiency?

Accepted Answer

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

Question 13

A fatigued 15-year-old Italian girl visits her general practitioner for a yearly physical. Her RBC count is elevated with a low H & H. The PB smear shows moderate microcytosis and hypochromia. Moderate poikilocytosis with moderate target cells is also noted. Hemoglobin electrophoresis is performed. The results indicate elevated levels of F and A2. Based on these findings, what is the most probable thalassemia genotype of this patient?

Accepted Answer

A)   β0β0
B)   β0β+
C)   β+β
D)   ββE) A) and B)
F) B) and D)

Question 14

Why are bone changes and deformities common findings in β-thalassemias?

Accepted Answer

A)   The globin chain synthesis is increased.
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) C) and D)
F) None of the above

Question 15

All of the following morphology are typically seen in beta thalassemia patients except:

Accepted Answer

A)   Codocytes
B)   Polychromasia
C)   Microcytes
D)   DrepanocytesE) B) and C)
F) A) and D)

Question 16

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) All of the above
F) B) and D)

Question 17

Why are thalassemias considered a separate entity from hemoglobinopathies?

Accepted Answer

Hemoglobinopathies result from qualitative defects in globin chains. Thalassemias result from quantitative defects in globin chain synthesis.

Question 18

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 epsilon and zeta production after birthE) A) and C)
F) All of the above

Question 19

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 is 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) None of the above
F) All of the above B

Question 20

Choose the thalassemia with the best prognosis from the following choices.

Accepted Answer

A)   Hgb H disease
B)   Silent carrier alpha thalassemia
C)   Beta thalassemia minor
D)   Beta thalassemia intermediaE) C) and D)
F) None of the above

Exam 14: Thalassemia

Thalassemias are defined as:

Correct Answer
verified
B

The geographic prevalence of -thalassemia is highest in which ancestry group?

Correct Answer
verified

Correct Answer
verified

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

Correct Answer
verified

Laboratory findings in thalassemia often include which of the following?

Correct Answer
verified

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

Correct Answer
verified

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

Correct Answer
verified

List the predominating hemoglobins in each of the following disorders: a. Hgb H disease b. α-thalassemia minor c. β-thalassemia major d. β-thalassemia intermedia

Correct Answer
verified
a. Hgb H disease: Hb H in adul...
View Answer

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

Correct Answer
verified

When a diagnosis of thalassemia is suspected, which test should always be done?

Correct Answer
verified

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

Correct Answer
verified

What test could provide the diagnosis differential for -thalassemia minor and iron deficiency?

Correct Answer
verified

Correct Answer
verified

Why are bone changes and deformities common findings in β-thalassemias?

Correct Answer
verified

All of the following morphology are typically seen in beta thalassemia patients except:

Correct Answer
verified

Impaired beta chain production translates to what on hemoglobin electrophoresis?

Correct Answer
verified

Why are thalassemias considered a separate entity from hemoglobinopathies?

Correct Answer
verified
Hemoglobinopathies result from qualitative defects in globin chains. Thalassemias result from quantitative defects in globin chain synthesis.

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

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 is the expected finding?

Correct Answer
verified
B

Choose the thalassemia with the best prognosis from the following choices.

Correct Answer
verified

Exam 14: Thalassemia

Thalassemias are defined as:

Correct AnswerverifiedB

The geographic prevalence of -thalassemia is highest in which ancestry group?

Correct AnswerverifiedShow Answer

Correct AnswerverifiedShow Answer

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

Correct AnswerverifiedShow Answer

Laboratory findings in thalassemia often include which of the following?

Correct AnswerverifiedShow Answer

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

Correct AnswerverifiedShow Answer

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

Correct AnswerverifiedShow Answer

List the predominating hemoglobins in each of the following disorders: a. Hgb H disease b. α-thalassemia minor c. β-thalassemia major d. β-thalassemia intermedia

Correct Answerverifieda. Hgb H disease: Hb H in adul...View AnswerShow Answer

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

Correct AnswerverifiedShow Answer

When a diagnosis of thalassemia is suspected, which test should always be done?

Correct AnswerverifiedShow Answer

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

Correct AnswerverifiedShow Answer

What test could provide the diagnosis differential for -thalassemia minor and iron deficiency?

Correct AnswerverifiedShow Answer

Correct AnswerverifiedShow Answer

Why are bone changes and deformities common findings in β-thalassemias?

Correct AnswerverifiedShow Answer

All of the following morphology are typically seen in beta thalassemia patients except:

Correct AnswerverifiedShow Answer

Impaired beta chain production translates to what on hemoglobin electrophoresis?

Correct AnswerverifiedShow Answer

Why are thalassemias considered a separate entity from hemoglobinopathies?

Correct AnswerverifiedHemoglobinopathies result from qualitative defects in globin chains. Thalassemias result from quantitative defects in globin chain synthesis.

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

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 is the expected finding?

Correct AnswerverifiedB

Choose the thalassemia with the best prognosis from the following choices.

Correct AnswerverifiedShow Answer

Correct Answer
verified
B

Correct Answer
verified

Correct Answer
verified

Correct Answer
verified

Correct Answer
verified

Correct Answer
verified

Correct Answer
verified

Correct Answer
verified
a. Hgb H disease: Hb H in adul...
View Answer

Correct Answer
verified

Correct Answer
verified

Correct Answer
verified

Correct Answer
verified

Correct Answer
verified

Correct Answer
verified

Correct Answer
verified

Correct Answer
verified

Correct Answer
verified
Hemoglobinopathies result from qualitative defects in globin chains. Thalassemias result from quantitative defects in globin chain synthesis.

Correct Answer
verified

Correct Answer
verified
B

Correct Answer
verified