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Hemoglobinopathies

Total questions: 23

Worksheet time: 12mins

Name
Class
Date
1.

Production of alpha globin chains is regulated by genes found in which chromosome?

a)

11

b)

16

c)

7

d)

6

2.

True or false: In the synthesis of all globin chains, there is one copy of each globin gene per chromatid, for a total of two genes per diploid nucleus.

a)

True

b)

False

3.

Which genetic mutation is the most common type of genetic mutation occurring in hemoglobinopathies

a)

deletion

b)

insertion

c)

fusion

d)

point mutation

4.

The American physician and clinical cardiologist who first observed and describe sickle cell anemia in 1910

a)

James Herrick

b)

Victor Emmel

c)

Vernon Hahn

d)

Linus Pauling

5.

In HbS homozygotes, the sickling process begins at oxygen saturation levels below:

a)

60

b)

70

c)

85

d)

95

6.

True or false: In HbS, glutamic acid is replaced by lysine at the 6th position of the beta chain

a)

True

b)

False

7.

Which clinical manifestation is the hallmark of sickle cell disease?

a)

splenic sequestration

b)

vasoocclusive crisis

c)

acute chest syndrome

d)

chronic hemolysis

8.

remnants of RBC nuclei

a)

Howell-Jolly bodies

b)

Pappenheimer bodies

c)

Heinz bodies

d)

None of the choices

9.

The presence of which RBC morphology is the hallmark of sickle cell disease

a)

drepanocytes and acanthocytes

b)

codocytes and drepanocytes

c)

schistocytes and stomatocytes

d)

spherocytes and codocytes

10.

The most common screening test for HbS

a)

capillary electrophoresis

b)

tandem mass spectrometry

c)

hemoglobin solubility test

d)

high performance liquid chromatography

11.

The only curative therapy for sickle cell disease

a)

hematopoietic stem cell transplantation

b)

blood exchange transfusion

c)

hydroxycarbamide

d)

L-glutamine

12.

The most common consequence of transfusion therapy in sickle cell disease

a)

transfusion reactions

b)

hepatitis B infection

c)

iron overload

d)

none of the choices

13.

This protein is responsible for iron overload in non-transfusion-dependent beta thalassemia

a)

hepcidin

b)

erythroferrone

c)

ferritin

d)

transferrin

14.

Which iron-chelating agent is administered orally once daily?

a)

deferasirox

b)

deferoxamine

c)

deferiprone

d)

none of the choices

15.

Which is the only curative therapy for thalassemia major?

a)

hematopoietic stem cell transplantation

b)

transfusion therapy

c)

iron chelation

d)

hydroxyurea

16.

Which is the most common type of mutation in beta thalassemia?

a)

point mutations

b)

deletion

c)

fusion

d)

extension

17.

Which is the most common type of mutation in alpha thalassemia?

a)

point mutations

b)

deletion

c)

fusion

d)

extension

18.

Tetramers of beta globin chains

a)

Hb Barts

b)

Hb H

c)

Both

d)

Neither

19.

Which is the predominant hemoglobin seen in a fetus with hydrops fetalis?

a)

Portland

b)

Hb F

c)

Hb H

d)

Hb Bart

20.

True or false: In beta thalassemia, RBCs are typically microcytic and hypochromic

a)

True

b)

False

21.

Diagnosis

a)

Hb H disease

b)

Sickle cell anemia

c)

Hb C

d)

Beta thalassemia

22.

Cooley's anemia

a)

Alpha thalassemia intermedia

b)

Hb H disease

c)

Beta thalassemia major

d)

Alpha thalassemia major

23.

Which disorder is incompatible with life?

a)

Alpha thalassemia major

b)

Beta thalassemia major

c)

Hb SS

d)

All of the choices