Hemoglobinopathies

Question 1

Alpha and Zeta globin genes can be found in what chromosome?

Answer 1

Chromosome 16

Question 2

Beta and epsilon globin genes can be found in what chromosome?

Answer 2

Chromosome 11

Question 3

Gamma and delta globin genes can be found in what chromosome?

Answer 3

Chromosome 11

Question 4

What is the first hemoglobin formed during the fetal life? What globin chains makes the hemoglobin?

Answer 4

Gower 1

Zeta + epsilon

Question 5

Gower 2 is composed of what globin chains?

Answer 5

Alpha + epsilon

Question 6

Portland is composed of what globin chains?

Answer 6

Zeta + gamma

Question 7

Hemoglobin F is composed of what globin chains?

Answer 7

Alpha + gamma

Question 8

What is the predominant hemoglobin at birth?

Answer 8

Hemoglobin F

Question 9

Two years after birth, what is the predominant hemoglobin present? What hemoglobin chains is it made of?

Answer 9

Hemoglobin A

Alpha + Beta

Question 10

Modified true or false:

Hb A migrates differently than Hb S when subjected to electrophoresis

Answer 10

True

Question 11

SCD is caused by what type of mutation and where doea it occur?

Answer 11

Point mutation

Nucleotide 17, position 6

Question 12

What amino acid is replaced in SCD? What is the amino acid present instead?

Answer 12

Glutamic Acid

Valine

Question 13

What causes the hemoglobins to interact with each other in SCD

Answer 13

Due to the exposed hydrophobic regions

Question 14

How does the increase in 2,3-BPG affect oxygen tension?

Answer 14

Decreases oxygen tension, releases the O²

Question 15

Other reasons affecting the sickling process

Answer 15

• Level of intracellular hydration
• Rediatribution of phospholipids in the RBC membrane
• microparticles, or “cellular dusts”

Question 16

What are the clinical features of SCD?

Answer 16

• vasooclusion
• bacterial infections
• hematologic defects
• cardiac defects
• high-risk pregnancy
• stunted growth

Question 17

What is the hallmark of SCD?

Answer 17

Vasooclusion / vasooclusive crisis

Question 18

Bodies present in the PBS of autosplenectomy

Answer 18

Howell-jolly bodies
Pappenheimer bodies

Question 19

What illness due to SCD displays as pulmonary infiltrates on chest radiograph?

Answer 19

Acute chest syndrome

Question 20

Blood picture of SCD

Answer 20

Normocytic, normochromic

Question 21

RDW of SCD

Answer 21

Increased

Question 22

What is the most common test in checking for Hb S? State the positive and negative results.

Answer 22

Hemoglobin solubility test

Turbid = +
Clear = -

Question 23

False positive results on hemoglobin solubility test are caused by:

Answer 23

Hyperlipidemia
Few rare hemoglobinopathies
Too much blood added

Question 24

False negative results on hemoglobin solubility test are caused by:

Answer 24

Infants younger than 6 months
Low Hct

Question 25

What is the common first step in confirming hemoglobinopathies

Answer 25

Alkaline hemoglobin electrophoresis

Question 26

What hemoglobin quantification method is best used for thalassemias?

Answer 26

HPLC (High Performance Liquid Chromatography)

Question 27

A confirmatory techinque for hemoglobin, but expensive and complex

Answer 27

Isoelectric focusing

Question 28

What are the techniques used for neonatal screening?

Answer 28

IEF HPLC Reversed-phase HPLC

Question 29

Heterozygous state are ______ Symptomatic or asymptomatic

Answer 29

Asymptomatic

Question 30

Hemoglobin solubility test result for Hb AS

Answer 30

Positive

Question 31

What happens to the glutamic acid in Hemoglobin C?

Answer 31

Turns to lysine

Question 32

Clinical symptoms of Hb C

Answer 32

Milder compared to SCD Mild splenomegaly No VOC Asymptomatic

Question 33

Blood picture of Hb C

Answer 33

Normocytic, normochromic

Question 34

Hexagonal crystals within RBCs may be seen in what hemoglobin?

Answer 34

Hb C

Question 35

Hemoglobin solubility test result for Hb C

Answer 35

Negative

Question 36

Techniques used for the definitive diagnosis of Hb C

Answer 36

Electrophoresis HPLC Nucleic acid testing

Question 37

Hb C-Harlem is caused by a mutation in what position?

Answer 37

Position 73 Aspartic acid to asparagine

Question 38

Hemoglobin solubility test result for Hb C-Harlem

Answer 38

Positive

Question 39

What is changed in Hb E, and at what position?

Answer 39

Glutamic acid to lysine, position 26

Question 40

Hemoglobin solubility test result for Hb E

Answer 40

Negative