Question 1

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 2

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

Question 3

Correlate the mutation type to each of the following disorders:
a. α-thalassemia major
b. β-thalassemia major
c. α-thalassemia silent carrier

Accepted Answer

a. Deletio

Question 4

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 5

Thalassemia differs from hemoglobinopathies by what characteristic?

Accepted Answer

A)  The production of abnormal globin chains 
B)  The point of genetic mutations 
C)  A decreased synthesis of normal hemoglobin 
D)  A qualitative defect in the globin structure 
A)  The production of abnormal globin chains 
B)  The point of genetic mutations 
C)  A decreased synthesis of normal hemoglobin 
D)  A qualitative defect in the globin structure

Question 6

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 7

α-thalassemia major results from deletion in ________ alleles of the alpha chain gene.

Accepted Answer

A)  1 
B)  2 
C)  3 
D)  4 
A)  1 
B)  2 
C)  3 
D)  4

Question 8

A promoter mutation of a globin chain gene in thalassemia has which effect on the globin chain?

Accepted Answer

A)  Amino acid change 
B)  Change to a longer globin chain 
C)  Change to a shorter globin chain 
D)  Reduced or absent production 
A)  Amino acid change 
B)  Change to a longer globin chain 
C)  Change to a shorter globin chain 
D)  Reduced or absent production

Question 9

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 10

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 11

What is the typical electrophoresis pattern in each of the following disorders and what is the severity of each?
a. α-thalassemia minor
b. Hgb H disease, adult
c. β-thalassemia major, homozygous
d. β-thalassemia minor
e. HPFH, homozygous
f. Hydrops fetalis

Accepted Answer

a. Hgb Bart's at birth; normal as adult;

Question 12

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

Exam 14: Thalassemia

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

What is the treatment of choice for thalassemias?

Correlate the mutation type to each of the following disorders: a. α-thalassemia major b. β-thalassemia major c. α-thalassemia silent carrier

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

Thalassemia differs from hemoglobinopathies by what characteristic?

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

α-thalassemia major results from deletion in ________ alleles of the alpha chain gene.

A promoter mutation of a globin chain gene in thalassemia has which effect on the globin chain?

What red cell morphology marks most types of thalassemia?

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

What is the typical electrophoresis pattern in each of the following disorders and what is the severity of each? a. α-thalassemia minor b. Hgb H disease, adult c. β-thalassemia major, homozygous d. β-thalassemia minor e. HPFH, homozygous f. Hydrops fetalis

Impaired alpha chain production in alpha thalassemias causes:

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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