Question 1

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. 
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. C

Question 2

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 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 psilon and zeta production after birth A

Question 3

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 C

Question 4

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 chain 
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 chain

Question 5

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 structure 
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 structure

Question 6

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

Question 7

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 8

Why are thalassemias considered a separate entity from hemoglobinopathies?

Accepted Answer

Hemoglobinopathies result from

Question 9

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

Question 10

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

Question 11

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 12

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 13

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 14

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 15

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 16

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 17

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

Question 18

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 19

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 20

What is the treatment of choice for thalassemias?

Accepted Answer

A) Supportive transfusions 
B) Bone marrow transplant 
C) Chemotherapy 
D) Radiation 
A) Supportive transfusions 
B) Bone marrow transplant 
C) Chemotherapy 
D) Radiation

Exam 11: Thalassemia

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

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

Impaired beta chain production translates to what on hemoglobin electrophoresis?

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

Thalessemia differs from hemoglobinopathies by what characteristic?

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?

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

Why are thalassemias considered a separate entity from hemoglobinopathies?

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

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

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

Laboratory findings in thalassemia often include which of the following?

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

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

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

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

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

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

What is the treatment of choice for thalassemias?

Introduction

Cellular Homeostasis

Hematopoiesis

Structure and Function of Hematopoietic Organs

The Erythrocyte

Hemoglobin

The Leukocyte

Introduction to Anemia

Anemias of Disordered Iron Metabolism and Heme Synthesis

Hemoglobinopaties: Qualitative Defects

Megaloblastic and Nonmegaloblastic Macrocytic Anemias

Introduction to Hemolytic Anemia

Hemolytic Anemia: Membrane Defects

Hemolytic Anemia: Enzyme Deficiencies

Hemolytic Anemia: Immune Anemias

Hemolytic Anemia: Nonimmune Defects

Nonmalignant Granulocyte and Monocyte Disorders

Nonmalignant Lymphocyte Disorders

Introduction to Hematopoietic Neoplasms

Myeloproliferative Disorders

Myelodysplastic Syndromes

Acute Myeloid Leukemias

Acute Lymphoblastic Leukemias

Lymphoid Malignancies: Chronic Lymphoid Leukemias, Lymphomas, and Plasma Cell 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

Hematology Procedures and Hemostasis

Bone Marrow Examination

Automation in Hematology and Hemostasis

Flow Cytometry

Chromosome Analysis of Hematopoietic and Lymphoid Disorders

Molecular Analysis of Hematologic Diseases

Laboratory Testing in Coagulation

Quality Assessment in the Hematology Laboratory

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