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HEMATOLOGY 1 > HEMOGLOBINOPATHIES > Flashcards

HEMOGLOBINOPATHIES Flashcards

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

A

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

20
Q

Increased O2 affinity hemoglobins

A

Hb Hiroshima, Hb Rainier, Hb Bethesda

21
Q

Decreased O2 affinity hemoglobins

A

Hb Agenogi, Hb Beth Israel, Hb Yoshizuka

22
Q

Hemoglobin S mutation

A

Glutamic acid at position 6 replaced by valine

23
Q

Sickle cell anemia vs. sickle cell trait

A

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

24
Q

Sickling mechanism

A

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

25
Q

Effect of sickling on RBCs

A

Cells become rigid, obstruct blood flow, cause tissue death, organ infarction, and pain

26
Q

Screening test for hemoglobin S

A

Sodium metabisulfite method, Sodium dithionite tube test (Solubility test), Hemoglobin Electrophoresis (Cellulose acetate)

27
Q

Principle of sodium metabisulfite method

A

Reducing agent deoxygenates Hb, causing sickling in Hb S RBCs

28
Q

Positive result in sodium metabisulfite method

A

Presence of sickle cells or ‘holly-leaf’ form (sickle cell trait)

29
Q

Limitation of sodium metabisulfite method

A

Cannot differentiate sickle cell trait from sickle cell anemia

30
Q

Confirmation test for hemoglobin S

A

Citrate agar

31
Q

Negative result in sodium metabisulfite method

A

Normal or slightly crenated RBCs

32
Q

Principle of sodium dithionite tube test

A

RBCs added to sodium dithionite and saponin; Hb S forms liquid crystals, producing a turbid appearance

33
Q

Positive result in sodium dithionite tube test

A

Turbid solution, black lines on the reader scale not visible

34
Q

Negative result in sodium dithionite tube test

A

Clear solution, black lines on the reader scale visible

35
Q

Confirmatory test after positive sodium dithionite test

A

Hb electrophoresis

36
Q

Test to confirm presence of Hb S

A

Positive sodium dithionite tube test (Solubility test)

37
Q

Test for hemoglobin variants

A

Hemoglobin Electrophoresis (Cellulose Acetate)

38
Q

Buffer used in hemoglobin electrophoresis

A

Alkaline buffer (pH 8.4 to 8.6)

39
Q

Charge of hemoglobin in electrophoresis

A

Negatively charged molecule

40
Q

Direction of hemoglobin migration in electrophoresis

A

Toward the anode (+) due to negative charge

41
Q

How hemoglobin variants are detected

A

Difference in mobility based on net charge reveals variants

42
Q

Primary screening procedure for abnormal hemoglobin

A

Hemoglobin Electrophoresis (Cellulose Acetate)

43
Q

Abnormality in Hemoglobin C

A

Glutamic acid replaced by lysine at position 6 of beta chain

44
Q

Crystal associated with Hb SC

A

Washington monument shape, protruding from RBC membrane

45
Q

Crystal associated with Hb CC

A

Bar of Gold shape, within the RBC membrane

HEMATOLOGY 1 (27 decks)

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