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HEMATOLOGY 1 > HEMOGLOBINOPATHIES > Flashcards

HEMOGLOBINOPATHIES Flashcards

(45 cards)

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1
Q

Disorders characterized by impaired synthesis of HEME

A

Porphyrias

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2
Q

Lead poisoning (plumbism/saturnism) causes

A

Lead inhibits enzymes, including ferrochelatase and pyrimidine-5’-nucleotidase

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3
Q

Causes basophilic stippling in reticulocytes (RNA remnants)

A

Lead inhibition of pyrimidine-5’-nucleotidase

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4
Q

Enzyme needed to completely remove RNA remnants from reticulocytes

A

Pyrimidine-5’-nucleotidase

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5
Q

Qualitative globin defects due to differences in amino acid arrangement in the polypeptide chain

A

Hemoglobinopathies

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6
Q

Major groups of hemoglobinopathies

A

Alpha-hemoglobinopathies, Beta-hemoglobinopathies, Gamma-hemoglobinopathies, Delta-hemoglobinopathies

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7
Q

Homozygous B-hemoglobinopathies (mutated B genes)

A

Hb A1 absent, abnormal hemoglobin predominant

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8
Q

Homozygous sickle cell disease genotype

A

Hb SS

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9
Q

Homozygous Hb C disease genotype

A

Hb CC

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10
Q

Heterozygous B-hemoglobinopathies (one normal, one mutated B gene)

A

Hb A1 predominant, abnormal Hb present

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11
Q

Heterozygous sickle cell trait genotype

A

Hb AS

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12
Q

Heterozygous Hb C trait genotype

A

Hb AC

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13
Q

Porphyrias affect

A

Heme (mitochondria, ferrous protophorphyrin IX)

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14
Q

Hemoglobinopathies affect

A

Globin (molecules and amino acids), hemoglobinopathies, thalassemias

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15
Q

Abnormal hemoglobins in β-hemoglobinopathies

A

Hb S, Hb C, Hb E

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16
Q

Hb S amino acid change

A

Glutamine to valine at position 6

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17
Q

Hb C amino acid change

A

Glutamine to lysine at position 6

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18
Q

Hb E amino acid change

A

Glutamine to lysine at position 26

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19
Q

M hemoglobins associated with methemoglobinemia, cyanosis, and chocolate brown color

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A

Hb M-Saskatoon, Hb M-Milwaukee-1, Hb M-Milwaukee-2

20
Q

Increased O2 affinity hemoglobins

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A

Hb Hiroshima, Hb Rainier, Hb Bethesda

21
Q

Decreased O2 affinity hemoglobins

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A

Hb Agenogi, Hb Beth Israel, Hb Yoshizuka

22
Q

Hemoglobin S mutation

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A

Glutamic acid at position 6 replaced by valine

23
Q

Sickle cell anemia vs. sickle cell trait

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A

80-100% Hb S causes easy sickling, 20-40% Hb S requires lower O2 for sickling

24
Q

Sickling mechanism

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A

Conformational change and polymerization of Hb S upon oxygen release, forming tactoids or crystals

25
Effect of sickling on RBCs
Cells become rigid, obstruct blood flow, cause tissue death, organ infarction, and pain
26
Screening test for hemoglobin S
Sodium metabisulfite method, Sodium dithionite tube test (Solubility test), Hemoglobin Electrophoresis (Cellulose acetate)
27
Principle of sodium metabisulfite method
Reducing agent deoxygenates Hb, causing sickling in Hb S RBCs
28
Positive result in sodium metabisulfite method
Presence of sickle cells or 'holly-leaf' form (sickle cell trait)
29
Limitation of sodium metabisulfite method
Cannot differentiate sickle cell trait from sickle cell anemia
30
Confirmation test for hemoglobin S
Citrate agar
31
Negative result in sodium metabisulfite method
Normal or slightly crenated RBCs
32
Principle of sodium dithionite tube test
RBCs added to sodium dithionite and saponin; Hb S forms liquid crystals, producing a turbid appearance
33
Positive result in sodium dithionite tube test
Turbid solution, black lines on the reader scale not visible
34
Negative result in sodium dithionite tube test
Clear solution, black lines on the reader scale visible
35
Confirmatory test after positive sodium dithionite test
Hb electrophoresis
36
Test to confirm presence of Hb S
Positive sodium dithionite tube test (Solubility test)
37
Test for hemoglobin variants
Hemoglobin Electrophoresis (Cellulose Acetate)
38
Buffer used in hemoglobin electrophoresis
Alkaline buffer (pH 8.4 to 8.6)
39
Charge of hemoglobin in electrophoresis
Negatively charged molecule
40
Direction of hemoglobin migration in electrophoresis
Toward the anode (+) due to negative charge
41
How hemoglobin variants are detected
Difference in mobility based on net charge reveals variants
42
Primary screening procedure for abnormal hemoglobin
Hemoglobin Electrophoresis (Cellulose Acetate)
43
Abnormality in Hemoglobin C
Glutamic acid replaced by lysine at position 6 of beta chain
44
Crystal associated with Hb SC
Washington monument shape, protruding from RBC membrane
45
Crystal associated with Hb CC
Bar of Gold shape, within the RBC membrane

HEMATOLOGY 1 (29 decks)

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