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 synthesis 
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 synthesis B

Question 2

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 3

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

Question 4

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 inclusions 
A)  Complete blood count 
B)  PB smear for Heinz bodies 
C)  Bone marrow aspirate 
D)  Brilliant cresyl blue staining for Hb H inclusions

Question 5

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

Accepted Answer

A)  Codocytes 
B)  Polychromasia 
C)  Microcytes 
D)  Drepanocytes 
A)  Codocytes 
B)  Polychromasia 
C)  Microcytes 
D)  Drepanocytes

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 major 
A)  Hemoglobin H disease 
B)  Hydrops fetalis 
C)  Silent carrier 
D)  β-thalassemia major

Question 7

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, Asian 
A)  Mediterranean, American Indian 
B)  Asian, Mediterranean, African 
C)  Canadian, African, Indian 
D)  South American, African, Asian

Question 8

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 birth 
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 birth

Question 9

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 10

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)  ββ 
A)  β0β0 
B)  β0β+ 
C)  β+β 
D)  ββ

Question 11

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 disease 
A)  α-thalassemia 
B)  β-thalassemia 
C)  Hydrops fetalis 
D)  Hemoglobin H disease

Question 12

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

Question 13

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 assay 
A)  Hemoglobin electrophoresis 
B)  Bone marrow aspiration 
C)  Iron studies 
D)  Vitamin B12 assay

Question 14

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 intermedia 
A)  Hgb H disease 
B)  Silent carrier alpha thalassemia 
C)  Beta thalassemia minor 
D)  Beta thalassemia intermedia

Question 15

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. 
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.

Question 16

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 aspirate 
A)  PB smear 
B)  Iron studies 
C)  Hemoglobin electrophoresis 
D)  Bone marrow aspirate

Question 17

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 anemia 
A)  Microcytic hyperchromic anemia 
B)  Microcytic hypochromic anemia 
C)  Macrocytic hyperchromic anemia 
D)  Macrocytic hypochromic anemia

Question 18

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 S 
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 S

Question 19

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 Portland 
A)  Hemoglobin F 
B)  Hemoglobin Lepore 
C)  Hemoglobin Bart's 
D)  Hemoglobin Portland

Question 20

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 chain 
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 chain

Exam 14: Thalassemia

Thalassemias are defined as:

Why are thalassemias considered a separate entity from hemoglobinopathies?

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?

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

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

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

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

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

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

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

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

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

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

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

Laboratory findings in thalassemia often include which of the following?

Impaired beta chain production translates to what on hemoglobin electrophoresis?

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

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

Introduction

Cellular Homeostasis

Structure and Function of Hematopoietic Organs

Hematopoiesis

The Erythrocyte

Hemoglobin

Granulocytes and Monocytes

Lymphocytes

The Platelet

The Complete Blood Count and Peripheral Blood Smear Evaluation

Introduction to Anemia

Anemias of Disordered Iron Metabolism and Heme Synthesis

Hemoglobinopathies: Qualitative Defects

Megaloblastic and Nonmegaloblastic Macrocytic Anemias

Hypoproliferative Anemias

Hemolytic Anemia: Membrane Defects

Hemolytic Anemia: Enzyme Deficiencies

Hemolytic Anemia: Immune Anemias

Hemolytic Anemia: Nonimmune Defects

Nonmalignant Disorders of Leukocytes: Granulocytes and Monocytes

Nonmalignant Lymphocyte Disorders

Introduction to Hematopoietic Neoplasms

Myeloproliferative Neoplasms

Myelodysplastic Syndromes

Acute Myeloid Leukemias

Precursor Lymphoid Neoplasms

Mature Lymphoid Neoplasms

Hematopoietic Stem Cell Transplantation

Morphologic Analysis of Body Fluids in the Hematology

Primary Hemostasis

Secondary Hemostasis and Fibrinolysis

Disorders of Primary Hemostasis

Disorders of Secondary Hemostasis

Thrombophilia

Hemostasis: Laboratory Testing and Instrumentation

Hematology Procedures

Bone Marrow Examination

Automation in Hematology

Flow Cytometry

Chromosome Analysis of Hematopoietic and Lymphoid Disorders

Molecular Analysis of Hematologic Diseases

Quality Assessment in the Hematology Laboratory

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