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HEMATOLOGY - Lec > Hemoglobinopathies > Flashcards

Hemoglobinopathies Flashcards

1
Q

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

A

Chromosome 16

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2
Q

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

A

Chromosome 11

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3
Q

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

A

Chromosome 11

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4
Q

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

A

Gower 1

Zeta + epsilon

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5
Q

Gower 2 is composed of what globin chains?

A

Alpha + epsilon

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6
Q

Portland is composed of what globin chains?

A

Zeta + gamma

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7
Q

Hemoglobin F is composed of what globin chains?

A

Alpha + gamma

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8
Q

What is the predominant hemoglobin at birth?

A

Hemoglobin F

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9
Q

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

A

Hemoglobin A

Alpha + Beta

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10
Q

Modified true or false:

Hb A migrates differently than Hb S when subjected to electrophoresis

A

True

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11
Q

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

A

Point mutation

Nucleotide 17, position 6

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12
Q

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

A

Glutamic Acid

Valine

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13
Q

What causes the hemoglobins to interact with each other in SCD

A

Due to the exposed hydrophobic regions

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14
Q

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

A

Decreases oxygen tension, releases the O²

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15
Q

Other reasons affecting the sickling process

A

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

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16
Q

What are the clinical features of SCD?

A

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

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17
Q

What is the hallmark of SCD?

A

Vasooclusion / vasooclusive crisis

18
Q

Bodies present in the PBS of autosplenectomy

A

Howell-jolly bodies
Pappenheimer bodies

19
Q

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

A

Acute chest syndrome

20
Q

Blood picture of SCD

A

Normocytic, normochromic

21
Q

RDW of SCD

A

Increased

22
Q

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

A

Hemoglobin solubility test

Turbid = +
Clear = -

23
Q

False positive results on hemoglobin solubility test are caused by:

A

Hyperlipidemia
Few rare hemoglobinopathies
Too much blood added

24
Q

False negative results on hemoglobin solubility test are caused by:

A

Infants younger than 6 months
Low Hct

25
Q

What is the common first step in confirming hemoglobinopathies

A

Alkaline hemoglobin electrophoresis

26
Q

What hemoglobin quantification method is best used for thalassemias?

A

HPLC (High Performance Liquid Chromatography)

27
Q

A confirmatory techinque for hemoglobin, but expensive and complex

A

Isoelectric focusing

28
Q

What are the techniques used for neonatal screening?

A

IEF
HPLC
Reversed-phase HPLC

29
Q

Heterozygous state are ______

Symptomatic or asymptomatic

A

Asymptomatic

30
Q

Hemoglobin solubility test result for Hb AS

A

Positive

31
Q

What happens to the glutamic acid in Hemoglobin C?

A

Turns to lysine

32
Q

Clinical symptoms of Hb C

A

Milder compared to SCD
Mild splenomegaly
No VOC
Asymptomatic

33
Q

Blood picture of Hb C

A

Normocytic, normochromic

34
Q

Hexagonal crystals within RBCs may be seen in what hemoglobin?

A

Hb C

35
Q

Hemoglobin solubility test result for Hb C

A

Negative

36
Q

Techniques used for the definitive diagnosis of Hb C

A

Electrophoresis
HPLC
Nucleic acid testing

37
Q

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

A

Position 73

Aspartic acid to asparagine

38
Q

Hemoglobin solubility test result for Hb C-Harlem

A

Positive

39
Q

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

A

Glutamic acid to lysine, position 26

40
Q

Hemoglobin solubility test result for Hb E

A

Negative

HEMATOLOGY - Lec (8 decks)

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