Deck 12: Hemolytic Anemias: Intracorpuscular Defects: Iv Thalassemia

Question 1

The anemia of thalassemia is morphologically characterized as __________ anemia.

A) Macrocytic/hyperchromic
B) Microcytic/hypochromic
C) Normocytic/normochromic
D) Microcytic/normochromic
E) None of the above

Answer 1

Microcytic/hypochromic

Question 2

What lethal disease is characterized by homozygosity of the $\alpha$ ⁰-thalassemia gene haplotype in utero?

A) Hydrops fetalis
B) Hemolytic disease of the newborn (HDN)
C) Hemoglobin Portland disease
D) Hemoglobin H disease
E) Hemoglobin Zurich

Answer 2

Hydrops fetalis

Question 3

Homozygosity for the $\beta$ ⁰ or $\beta$ ⁺ thalassemia gene results in:

A) Hemoglobin H disease
B) Alpha thalassemia
C) Thalassemia major
D) Thalassemia minor
E) None of the above

Answer 3

Thalassemia major

Question 4

The distinguishing feature of both alpha thalassemia-one-trait and alpha thalassemia-two-trait conditions compared to Bart's hydrops fetalis or hemoglobin H disease is:

A) Lack of hemoglobin Bart's at birth
B) Disappearance of hemoglobin Bart's with development
C) Persistence of high levels of fetal hemoglobin into adulthood.
D) Excessive amounts of hemoglobin Portland at birth
E) None of the above

Question 5

Which of the following findings would not be indicative of heterozygous $\beta$ thalassemia?

A) Hemoglobin A₂ level of 3.5% to 7%
B) Hemoglobin F level of 2% to 5%
C) Hemoglobin A level of 65% to 85%
D) Hemoglobin A level of 90% to 95%
E) D and A are correct

Question 6

Which non-alpha thalassemias may be expected to have similar if not identical hemoglobin A, A₂, and F levels?

A) Homozygous hereditary persistence of fetal hemoglobin (HPFH) and homozygous delta-beta thalassemia
B) Homozygous Hgb Lepare and thalassemia intermedia
C) Thalassemia major and thalassemia minor
D) Heterozygous HPFH and homozygous HPFH
E) None of the above

Question 7

What hemoglobin structures make up hemoglobin A₂?

A) Zeta 2 epsilon 2
B) Alpha 2 beta 2
C) Alpha 2 gamma 2
D) Alpha 2 delta 2
E) None of the above

Question 8

The characteristic facial changes in a patient diagnosed with thalassemia major include hypertrophy of maxilla, widely spared eyes, and prominent cheekbones. This is the result of:

A) Expansion of marrow space
B) Extramedullary hematopoiesis
C) Vitamin B₁₂ deficiency
D) Increase in hemoglobins
E) None of the above

Question 9

Which type of $\beta$$\beta$ + thalassemia produces the least amount of beta chains?

A) Type 1
B) Type 2
C) Type 3
D) Type 4
E) None of the above

Question 10

What percentage of normal hemoglobin consists of hemoglobin A?

A) Gene addition
B) Gene fusion
C) Point mutation
D) Point elongation
E) None of the above

Question 11

It has been hypothesized that a person who is heterozygous for the thalassemia gene is resistant to malaria caused by __________.

A) Plasmodium ovale
B) Plasmodium falciparum
C) Plasmodium vivax
D) Plasmodium malariae
E) None of the above

Question 12

In contrast to beta thalassemia, alpha thalassemia usually manifests:

A) After age 40
B) At the onset of puberty
C) Immediately at birth
D) Only in postmenopausal women
E) After age 10

Question 13

All of the following comprise the clinical categories of alpha thalassemia except:

A) Bart's hydrops fetalis syndrome
B) Hemoglobin H disease
C) Hereditary persistence of fetal hemoglobin
D) Alpha thalassemia 1
E) Alpha thalassemia 2

Question 14

Gene deletions are the cause of the majority of alpha thalassemia cases because:

A) There are no areas of homology between the two closely linked alpha genes globin.
B) The $\alpha$ ₂ globin gene is expressed at two to three times the rate of $\alpha$ ₁ globin gene.
C) Great homology in the gene blocks render the areas more susceptible to deletion error during crossover.
D) Alpha genes are juxtapositioned to numerous transcriptional mutants.
E) None of the above

Question 15

Decreased or absent alpha-chain production will result in:

A) Decreased gamma chain production during fetal life and adult life
B) Excess gamma chain production during fetal life and at birth
C) No gamma chain production during fetal life
D) No gamma chain production during adult life
E) None of the above

Question 16

What is another name for thalassemia major?

A) Cooley's anemia
B) Fanconi's anemia
C) Alpha thalassemia
D) Schilling's syndrome
E) None of the above

Question 17

What hemoglobin consists of four gamma chains?

A) Hemoglobin H
B) Hemoglobin Bart's
C) Hemoglobin F
D) Hemoglobin A₂
E) None of the above

Question 18

A person native to Thailand would have more probability of presenting with:

A) Thalassemia major
B) Alpha thalassemia
C) Beta thalassemia
D) Gamma-beta thalassemia
E) None of the above

Question 19

Thalassemia is found:

A) Only in the Mediterranean Sea area
B) Only in Australia and South Pacific Islands
C) Only in Southeast Asia
D) Only on the African continent
E) Worldwide

Question 20

Hemoglobin A consists of:

A) Two alpha ( $\alpha$ ) chains and two gamma ( $\gamma$ ) chains
B) Two alpha chains and two delta ( $\delta$ ) chains
C) Two alpha chains and two beta ( $\beta$ ) chains
D) Two alpha chains and two epsilon ( $\varepsilon$ ) chains
E) None of the above

Question 21

A 13-year-old boy presents with the following hematologic results: RBC = 5.76 million, Hb, 10.4 g/dL; Hct, 35.9%; MCV (mean corpuscular volume), 63 fL: MCH (mean corpuscular hemoglobin), 18.2 pg; MCHC (mean corpuscular hemoglobin concentration), 29%; and RDW (red blood cell distribution width), 13.5. Morphology includes mild anisocytosis and occasional target cells. All iron studies are normal. Electrophoresis on cellulose acetate at pH 8.4 indicates an increase in HbF and HbA₂. What thalassemia syndrome is evident?

A) αα-thalassemia
B) ββ-thalassemia
C) Hemoglobin E disease
D) Sideroblastic anemia
E) None of the above

Question 22

Hemoglobin electrophoresis of a 2-year-old patient showed migration of A₂ and F on cellulose acetate at pH 8.4. Quantitation studies showed 5% A₂ and 95% F. What thalassemia is most likely present?

A) Alpha thalassemia
B) Beta thalassemia
C) Beta-sickle thalassemia
D) Alpha-sickle thalassemia
E) None of the above

Question 23

A 5-year-old boy presents with a hemoglobin and hematocrit of 10 g/dL and 30% respectively, a serum bilirubin of 3.0 mg/dL, a RBC count of 4.0 million/µL, and splenomegaly. Which clinical expression of thalassemia best correlates with the data?

A) Thalassemia major
B) Thalassemia minor
C) Thalassemia intermedia
D) Bart's hydrops fetalis
E) HPFH

Question 24

Which clinical expression of thalassemia is associated with a healthy silent carrier showing no clinical symptoms and minimal to no hematologic abnormalities?

A) Thalassemia major
B) Thalassemia minor
C) Thalassemia intermedia
D) Bart's hydrops fetalis
E) None of the above

Question 25

The main concern(s) regarding patients with thalassemia major treated with hypertransfusion include(s):

A) Iron overload
B) Alloimmunization
C) Transfusion-transmitted disease
D) All of the above
E) None of the above

Question 26

What is hemoglobin F composed of?

A) Alpha 2, beta 2
B) Alpha 2, gamma 2
C) Alpha 2, delta 2
D) Alpha 2, zeta 2
E) None of the above

Question 27

Therapy for thalassemia major patients may include:

A) High blood transfusion program
B) Splenectomy
C) Bone marrow transplant
D) All of the above
E) None of the above

Question 28

What thalassemia-associated variant will result in sickling crisis in severe hypoxic conditions?

A) Beta thalassemia/hemoglobin E
B) Beta thalassemia/hemoglobin C
C) Beta thalassemia/hemoglobin S
D) Alpha thalassemia/sickle cell
E) Hemoglobin SC

Question 29

Which abnormal hemoglobin is produced from a fusion of delta and beta chains?

A) Hemoglobin Lepore
B) Hemoglobin Portland
C) Hemoglobin Constant Spring
D) Hemoglobin Bart's
E) Hemoglobin Zurich

Question 30

Which form of HPFH is characterized by uniform distribution among red cells when stained by the Kleinhauer-Betke method?

A) Hypocellular
B) Pancellular
C) Heterocellular
D) Hypercellular
E) Acellular