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Hema 1 part 1 > HEMOGLOBINOPATHIES > Flashcards

HEMOGLOBINOPATHIES Flashcards

1
Q
  • Most common genetic diseases, affecting approximately 7% of world’s population
  • Qualitative defect of hemoglobin due to altered amino acid sequence within the globin chains
A

HEMOGLOBINOPATHIES

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2
Q

HEMOGLOBINOPATHIES:
Confirmatory test:

A

HPLC
Hb Electrophoresis

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3
Q

Hb Electrophoresis
_____ (pH 8.4)
_____ (pH 6.0 - 6.2)

A

Cellulose acetate
Citrate agar

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4
Q

All hemoglobin will migrate towards anode

A

Cellulose Acetate Agar

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5
Q

Cellulose Acetate Agar
Normal result:

A

A, A2, F

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6
Q

Normal hemoglobin that is fastest/ nearest to anode

A

A

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7
Q

Normal hemoglobin that is fastest/ nearest to anode is A followed by __

A

F

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8
Q

Slowest to migrate

A

A2

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9
Q

Cellulose Acetate Agar
Abnormal hemoglobins:

A

S, D, G, C, E, O

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10
Q

Performed when you want to separate hemoglobin S,D,G,C,E,O from S

A

Citrate Agar

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11
Q

S is separated from _ and _

A

D
G

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12
Q

C is separated from _ and _

A

E
O

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13
Q

Qualitative defect of hemoglobin

A

Hemoglobinopathies

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14
Q

Quantitative defect of hemoglobin
(absent or lacking globin
chain)

A

Thalassemia

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15
Q

Valine replaces glutamic acid at the 6th position of the beta chain

A

HEMOGLOBIN S

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16
Q

HEMOGLOBIN S:
____ replaces Glutamic acid at the ___ position of the ___ chain

A

Valine
6th
beta

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17
Q

Sickle Cell trait -

A

Hb As

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18
Q
  • Generally asymptomatic or has mild symptoms only
  • Normal RBC morphology, with the exception of a few target cells
A

Sickle Cell trait - Hb As

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19
Q
  • Most common form of hemoglobinopathy
  • Patients are either homozygotes (SS) or compound heterozygotes (SC, SE, S-B-thal)
A

Sickle cell disease

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20
Q

HEMOGLOBIN S:
Pathophysiology:
- Less soluble forming ____ or liquid crystals and causes sickling of RBCs
- ____ blood viscosity and ______ slow the blood flow
- Occlusion of capillaries and arterioles by sickled RBCs and infarction of
surrounding tissue
- _______ damages the membrane channels in RBC

A

tactoids
Increased
sickle cell formation
Hb S polymerization

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21
Q

HEMOGLOBIN S
Pathophysiology:
* Less soluble forming tactoids or liquid crystals and causes sickling of RBCs
___% O2 saturation among homozygotes
___% O2 saturation among heterozygotes

A

< 85%
< 40%

22
Q

Hallmark of SCD, which accounts for most hospital and emergency department visits

A

Vaso occlusive crisis

23
Q

T or F
HEMOGLOBIN S:
Painful episodes manifest often in bones, lungs, liver, spleen, eyes, CNS, urinary tract

A

T

24
Q

HEMOGLOBIN S
Clinical Features:
- Sudden trapping of blood in the spleen, which leads to a rapid decline in hemoglobin
- Repeated splenic infarcts produce scarring resulting in diminished splenic tissue, abnormal function or gradual loss of splenic function
(autosplenectomy)

A

Splenic sequestration and infarcts

25
Q

HEMOGLOBIN S
Clinical Features:
- Acute infections are common causes of hospitalization and have been the most common causes of death, especially in the first 3 years of life

A

Bacterial infections

26
Q

HEMOGLOBIN S
Clinical Features:
Most common life-threatening hematologic complications and are usually associated with parvovirus infection

A

Aplastic episodes (BM failure)

27
Q

HEMOGLOBIN S
Laboratory Screening Tests:
Slide method (+) result: Sickling of RBCs

A

2% Sodium metabisulfite test

28
Q

HEMOGLOBIN S
Laboratory Screening Tests:
Tube method (+) result: Turbidity

A

Dithionite solubility test

29
Q

2% Sodium metabisulfite test - Slide method (+) result:

A

Sickling of RBCs

30
Q

Dithionite solubility test - Tube method (+) result:

A

Turbidity

31
Q

LYSINE replaces glutamic acid at the 6th position of beta chain

A

HEMOGLOBIN C

32
Q

HEMOGLOBIN C:
____ replaces glutamic acid at the __ position of ____ chain

A

LYSINE
6th
beta

33
Q

Found almost exclusively in the African American population

A

HEMOGLOBIN C

34
Q

Most common non-sickling Hb variant encountered in the United States

A

HEMOGLOBIN C

35
Q

Hb C forms polymers intracellularly (short, thick crystals); increased in number of
_____

A

target cells

36
Q

hexagonal crystals/”bar of gold” appearance

A

Thick crystals

37
Q

associated with liver disease, Thalassemia, Hgb C disease

A

Target cells

38
Q

T or F
Hgb C is milder disease compared with SCD since vaso-occlusive crisis does not occur

A

T

39
Q

LYSINE replaces glutamic acid at the 26th position of beta chain

A

HEMOGLOBIN E

40
Q

HEMOGLOBIN E:
___ replaces glutamic acid at the ____ position of __chain

A

LYSINE
26th
beta

41
Q

The homozygous state (Hb EE) manifests as a mild anemia with microcytes and target cells

A

HEMOGLOBIN E

42
Q

LYSINE replaces glutamic acid at the 121st position of beta chain

A

HEMOGLOBIN O-ARAB

43
Q

HEMOGLOBIN O-ARAB:
___ replaces glutamic acid at the ____ position of ___ chain

A

LYSINE
121st
beta

44
Q

Rare disorder found in Kenya, Israel, Egypt, and Bulgaria

A

HEMOGLOBIN O-ARAB

45
Q

TYROSINE replaces histidine in the α, β, or γ chains

A

HEMOGLOBIN M

46
Q

HEMOGLOBIN M:
_____ replaces ___in the α, β, or γ chains

A

TYROSINE
histidine

47
Q

iron in the ferric state (Fe3+) and is unable to carry oxygen, which produces cyanosis

A

HEMOGLOBIN M

48
Q

HEMOGLOBIN M:
iron in the ____ state and is unable to carry oxygen, which produces _____

A

ferric
cyanosis

49
Q

GLUTAMINE replaces glutamic acid at the 121st position of beta chain

A

HEMOGLOBIN D

50
Q

HEMOGLOBIN D:
_____ replaces glutamic acid at the ___ position of ____ chain

A

GLUTAMINE
121st
beta

51
Q

LYSINE replaces asparagine at the 68th alpha chain

A

HEMOGLOBIN G

52
Q

HEMOGLOBIN G:
____ replaces asparagine at the ____ ____chain

A

LYSINE
68th
alpha

Hema 1 part 1 (6 decks)

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