Question 1

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 D

Question 2

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 3

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 D

Question 4

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

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

Question 6

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 7

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 
A) Deletion mutation 
B) Substitution mutation 
C) Exposure to a mutagenic agent 
D) Frameshift mutation

Question 8

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 9

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 10

Why are thalassemias considered a separate entity from hemoglobinopathies?

Accepted Answer

Hemoglobinopathies result from

Question 11

Impaired alpha chain production in alpha thalassemias causes:

Accepted Answer

A) Overproduction of hemoglobin F and A₂ 
B) Production of Hb Bart's and Hb H. 
C) Normal hemoglobin distribution 
D) Fusion of alpha and gamma chains 
A) Overproduction of hemoglobin F and A₂ 
B) Production of Hb Bart's and Hb H. 
C) Normal hemoglobin distribution 
D) Fusion of alpha and gamma chains

Question 12

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

Question 13

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 
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

Question 14

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 15

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 16

What red cell morphology marks most types of thalassemia?

Accepted Answer

A) Target cells 
B) Basophilic stippling 
C) Polychromasia 
D) Normal findings 
A) Target cells 
B) Basophilic stippling 
C) Polychromasia 
D) Normal findings

Question 17

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)   
B)   
C)   
D)   
A)   
B)   
C)   
D)

Question 18

The geographic prevalence of α-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 19

Which of the following statements is true regarding hemoglobinopathies but false in thalassemia?

Accepted Answer

A) Abnormal hemoglobin polymerizes inside erythrocytes,altering red cell shape. 
B) Novel hemoglobins composed of abnormal combinations of normal globin chains can be detected on hemoglobin electrophoresis. 
C) Elevations in embryonic and fetal hemoglobins can be observed. 
D) The amino acid sequence of the globin chains of the abnormal hemoglobins is normal. 
A) Abnormal hemoglobin polymerizes inside erythrocytes,altering red cell shape. 
B) Novel hemoglobins composed of abnormal combinations of normal globin chains can be detected on hemoglobin electrophoresis. 
C) Elevations in embryonic and fetal hemoglobins can be observed. 
D) The amino acid sequence of the globin chains of the abnormal hemoglobins is normal.

Question 20

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

Exam 14: Thalassemia

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

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?

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

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

Laboratory findings in thalassemia often include which of the following?

Impaired beta chain production translates to what on hemoglobin electrophoresis?

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

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

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

Why are thalassemias considered a separate entity from hemoglobinopathies?

Impaired alpha chain production in alpha thalassemias causes:

Thalassemias are defined as:

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

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

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

What red cell morphology marks most types of thalassemia?

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

Which of the following statements is true regarding hemoglobinopathies but false in thalassemia?

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

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 Laboratory

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

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