FINALS 1: Hemoglobinopathies

Question 1

Type of cell that is associated with the hemoglobinopathies

Answer 1

Target cells

Question 2

Disease that is caused when valine replaces glutamic acid at position 6 on both beta chains

Answer 2

Sickle cell disease

Question 3

Sickle cell disease is caused when ______ replaces ______ at position 6 on both beta chains

Answer 3

valine

glutamic acid

Question 4

In sickle cell disease no ____ is produced

Answer 4

Hgb A

Question 5

In sickle cell disease _____ and ____ are seen.

Answer 5

Hgb S and Hgb F

Question 6

Hemoglobin insolubility results when______ is formed.

Answer 6

deoxyhemoglobin

Question 7

Hemoglobin ____ in erythrocytes which causes the sickle shape of the RBC

Answer 7

crystallizes

Question 8

In sickle cell disease, _________ haemolytic anemia with polychromasia resulting from premature release of reticulocytes

Answer 8

normochromic/normocytic

Question 9

In sickle cell disease what happens to the BM

Answer 9

bone marrow erythroid hyperplasia (M:E ratio decreases)

Question 10

Types of cells present in sickle cell disease

Answer 10

Sickle cells
target cells, 
nucleated RBCs
Pappenheimer bodies
Howell-Jolly bodies

Question 11

________ is caused when valine replaces glutamic acid at position 6 on one beta chain

Answer 11

Sickle cell trait

Question 12

Number of beta chains affect in sickle cell disease

Answer 12

2

Question 13

This _________ is the most common hemoglobinopathy in the United States

Answer 13

heterozygous trait

Question 14

Sickle cell trait generally produces no clinical symptoms. Anemia is rare but, if present, will be _____________, and sickling can occur during rare crisis states (same as in Hgb SS).

Answer 14

normochromic/normocytic

Question 15

Result of haemoglobin solubility screening test in Sickle cell trait

Answer 15

+

Question 16

Sickle cell trait/disease patients have apparent immunity to what blood parasite

Answer 16

Plasmodium falciparum.

Question 17

Hgb C disease is caused when______ replaces glutamic acid at position 6 on both beta chains.

Answer 17

lysine

Question 18

In Hgb C disease, no _____ is produced

Answer 18

Hgb A

Question 19

In Hgb C disease, ____, ____ and ____ are produced.

Answer 19

Hgb C
Hgb A2
Hgb F

Question 20

In Hgb C disease, ___________ anemia with target cells

Answer 20

normochromic/ normocytic

Question 21

In Hgb C disease is characterized by ________

Answer 21

intracellular rodlike C crystals

Question 22

Method in which it can differentiate hemoglobins

Answer 22

acid electrophoresis

Question 23

The heterozygous Hgb C trait patient is ______, ________ (with/without?) anemia; the_____ normal beta chain is able to produce approximately 60% Hgb A and 40% Hgb C, with normal amounts of Hgb A2 and Hgb F

Answer 23

asymptomatic
without
1

Question 24

______ is a double heterozygous condition where an abnormal sickle gene from one parent and an abnormal C gene from the other parent inherited.

Answer 24

Hgb SC disease

Question 25

In Hgb SC disease, severe _________ anemia with target cells occur; characterized by ______; may see rare sickle cells or C crystals; positive haemoglobin solubility screening test

Answer 25

normocytic/normochromic

SC crystals

Question 26

In Hemoglobin E, it is caused when______ replaces glutamic acid at position 26 on the beta chain

Answer 26

lysine

Question 27

Homozygous condition of Hemoglobin E results in ______ with microcytes and target cells; heterozygotes are _______

Answer 27

mild anemia

asymptomatic

Question 28

Hemoglobin D also known as ____

Answer 28

Punjab

Question 29

Hemoglobin D is caused when_____ replaces glutamic acid at position 121 on the beta chain

Answer 29

glycine

Question 30

In Hemoglobin D, homozygous is _______and heterozygous conditions are________

symptomatic or asymptomatic

Answer 30

asymptomatic

asymptomatic