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PH 166 > Hemoglobinopathies and Porphyrias > Flashcards

Hemoglobinopathies and Porphyrias Flashcards

1
Q 
porphyrins - four atomic rings joined by \_\_ bridges
A. sulfide
B. chloride
C. methene
D. pentene
A

C

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2
Q

product formed in the first reaction of the heme biosynthesis pathway

A

S-aminolevulinic acid

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3
Q

the enzyme for the first reaction of heme biosynthesis pathway is due to the deficiency of what vitamin?

A

B6

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4
Q

the enzyme for the first reaction of heme biosynthesis pathway leads to formation of ___

A

siderosomes

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5
Q 
location in the cell for 2nd reaction of heme biosynthesis pathway
A. mitochondrion
B. vacuole
C. cytosol
D. nucleus
A

C

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6
Q

product formed in the second reaction of the heme biosynthesis pathway

A

porphobilinogen

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7
Q

S-aminolevulinic acid is formed from which 2 reactants?

A

glycine

succinyl-CoA

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8
Q 
the enzyme required to catalyze production of porphobilinogen requires \_\_
A. iron
B. zinc
C. calcium
D. AOTA
A

B

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9
Q

ALAD Deficient Porphyria is autosomal recessive genetic disorder. ALAD is the enzyme for the 2nd reaction for heme formation. It stands for __

A

aminolevulinic acid dehydratase

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10
Q

product formed in the third reaction of the heme biosynthesis pathway

A

hydroxymethylbilane

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11
Q 
Which is not an enzyme in the 3rd rxn for heme formation?
A. Aminolevilinic dehydratase
B. Porphobilinogen deaminase
C. Hydroxymethylbilane synthase
D. Uroporphyrinogen I synthase
A

A

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12
Q 
Acute intermittent porphyria is caused by defect in gene encoding for:
A. Aminolevilinic dehydratase
B. Porphobilinogen deaminase
C. Hydroxymethylbilane synthase
D. Uroporphyrinogen I synthase
A

B

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13
Q 
Most important fate of hydroxymethylbilane
A.uroporphyrinogen I
B.uroporphyrinogen II
C.uroporphyrinogen III
D.NOTA
A

C

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14
Q

Porphyria caused by defect in uroporphyrinogen III synthase

A

Congenital erythropoietic porphyria

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15
Q

Porphyria caused by defect in urodecarboxylase

A

Porphyria cutanae tarda

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16
Q

Porphyria cutanae tarda - differentiate type I fr II

A

Type I - mutations affected only hepatic enzyme

Type II - mutations affecting non-hepatic tissue

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17
Q

IM Prod @ the 5th reaction of heme biosynthesis pathway

A

Protoporphyrinogen IX

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18
Q

Hereditary coproporphyria is caused by a mutation in this specific gene. Identify the gene, which codes for enzyme @ 5th rxn of heme biosyn pathway

A

gene coding for coproporphyrinogen-III oxidase

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19
Q

IM prod @ the 6th reaction of heme biosynthesis pathway

A

Protoporphyrin IX

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20
Q

Variegate coproporphyria is caused by a mutation in this specific gene. Identify the gene, which codes for enzyme @ 6th rxn of heme biosyn pathway

A

Protoporphyrinogen IX oxidase

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21
Q

Product @ the 7th reaction of heme biosynthesis pathway. How does this come about?

A

Heme b

Insertion of ferrous ion @ ring system

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22
Q

Erythropoietic coproporphyria is caused by a mutation in this specific gene. Identify the gene, which codes for enzyme @ final rxn of heme biosyn pathway

A

Gene for ferrochelatase enzyme

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23
Q

Arrange in sequence @ heme biosyn pathway

A.Protoporphyrin IX
B.Uroporphyrinogen III
C.Protoporphyrinogen IX
D.Aminolevulinic acid
E.Heme B
F.Porphobilinogen
G.Hydroxymethylbilane
A 
D.Aminolevulinic acid
F.Porphobilinogen
G.Hydroxymethylbilane
B.Uroporphyrinogen III
C.Protoporphyrinogen IX
A.Protoporphyrin IX
E.Heme B
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24
Q

(1) Three enzymes @ heme biosyn pathway that are highly sensitive to heavy metal poisoning: enumerate
(2) Which among the 3 is most significant?

A

Ferrochelatase - MOST SIG, CLINICALLY
Aminolevulinic acid synthase
Aminolevulinic acid dehydratase

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25
Q

Among the ff, which is most soluble in urine? (More than 1 answer)

A.Protoporphyrin IX
B.Uroporphyrinogen III
C.Protoporphyrinogen IX
D.Aminolevulinic acid
E.Heme B
F.Porphobilinogen
G.Hydroxymethylbilane
A

D.Aminolevulinic acid
F.Porphobilinogen
B.Uroporphyrinogen III

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26
Q

Among the ff, which is not seen in urine?

A.Protoporphyrin IX
B.Uroporphyrinogen III
C.Protoporphyrinogen IX
D.Aminolevulinic acid
E.Heme B
F.Porphobilinogen
G.Hydroxymethylbilane
A

A

27
Q

Two most common clin manif of porphyria- enumerate

A

Neurovisceral abnormalities

Cutaneous sensitivity

28
Q

Two early of porphyria- enumerate

A

Staining of teeth

Red/port wine color to the urine after exposure to air

29
Q

Which is false about secondary porphyria?
A.Aminolevulinic acid level increased
B.Porphobilinogen level increased
C.Lead poisoning causes increased coproporphyrinogen, leading to this diseases

A

B

They remain normal

30
Q

Porphyrin analysis - enumerate the products & precursors that are part

A 
Aminolevulinic acid
Porphobilinogen
Uroporphyrinogen III
Protoporphyrinogen IX
Coproporphyrinogen III
31
Q

Enumerate & Differentiate the two most common screening tests for urinary Porphobilinogen.

A

Watson-Schwartz
Hoesch

WS - need to eliminate urobilinogen
H - no need

32
Q

Explain basis of two most common screening tests for urinary Porphobilinogen

A

PBG + Erlich’s reagent –> red orange color

33
Q

Which is measured by Erlich’s test? ( more than 1 answer )

A.Aminolevulinic acid
B.Porphobilinogen
C.Uroporphyrinogen III
D.Protoporphyrinogen IX
E.Coproporphyrinogen III
A

A and B

34
Q

Porphyrin tests - which is true?
A.zinc protoporphyrins increase in amount when there is much iron
B. Faint blue is positive result in fluorescence
C. Molecular diagnostics - for asymptomatic gene carriers

A

C

A-Fe insuff dapat
B-Violet,pink,red dapat

35
Q

Which is false about thalassemia?
A.RBC are hypochromic
B.autosomal dominant disorder
C.thalassemia major resembles Fe def

A

C

Minor dapat

36
Q

Most clinically severe alpha thalassemia. Total absence of gamma chain.

A

Hydrops fetalis

37
Q

Alpha chain sunthesis at about onethird of beta chain synthesis. Hgb H formed, altering shape of RBC & life span.

Identify alpha thalassemia

A

Hemoglobin H disease

38
Q

Which has more alpha gene deletions between the two thalassemias?
A. Alpha thalassemia trait
B. Silent carriers
C. Equal lang sila

A

A

39
Q

Differentiate Beta-(+) thalassemia fr Beta-0 thalassemia. Which is more common?

A

Beta-(+) : chains produced in reduced amount. More common

Beta-0: chains are completely absent

40
Q

Increase in alpha chains + bone marrow size inc + structural bone abnormalities

Which one?
A. Heterozygous Beta-thalassemia
B. Homozygous Beta-thalassemia
C. BOTA
D. NOTA
A

B

41
Q

Only one thalassemia gene inherited. Clinically asymptomatic usually.

Which one?
A. Heterozygous Beta-thalassemia
B. Homozygous Beta-thalassemia
C. BOTA
D. NOTA
A

A

42
Q 
Which lab method is used to differentiate thalassemia minor from iron deficiency anemia?
A. Isoelectric focusing 
B. HPLC
C. Blood film evaluation
D. Serum ferritin
A

D

43
Q

Explain solubility test for Hgb

A

Sickling Hgb @ deoxy state is relatively insoluble and forms ppt when placed & high molarity phosphate buffer

44
Q

Which is not false (-) for Hgb?
A.anemia
B.recent transfusion
C.hyperlipidemia

A

C

45
Q 
Which is not false (+) for Hgb?
A.erythrocytosis
B.recent transfusion
C.hyperlipidemia
D.hyperglobulinrmia
A

B

46
Q

Order of electrophoretic mobility @ cellulose acetate Hgb electrophoresis. Arrange!!!

A. HgbS
B. HgbA
C. HgbC
D. HgbF

A

C
A
B
D

47
Q 
Which is performed in alkaline setting?
A. Cellulose acetate electrophoresis
B. Citrate agar electrophoresis
C. BOTA
D. NOTA
A

A

48
Q 
Which is performed in acidic setting?
A. Cellulose acetate electrophoresis
B. Citrate agar electrophoresis
C. BOTA
D. NOTA
A

B

49
Q

Enumerate adult HgB similar in solubility to Hgb A

A 
D 
I
E
G
O
50
Q 
Which is not a differentiating feature of porphyria cutanae tarda?
A.liver damage in patients
B.decreased excretion of uroporphyrin
C.iron depletion
D.NOTA
A

B

Increased dapat

51
Q 
Which is false?
A.HgbC & E: net (+) charge
B.HgbA: like HgbS but with (+) charge
C.Hgb E: often seen with thalassemia
D.NOTA
A

B

(-) charge dapaf

52
Q

Which is false?
A. HgbS may manifest as tissue hypoxia
B. All positive cases for HgbS have abnormal blood film
C. HgbS & HgbC: heterozygous - asymptomatic
D. HgbSC: positive solubility test

A

B

53
Q 
Identify the hemoglobinopathy: glycine substituted by glutamic acid
A. HgbA
B. HgbC
C. HgbD
D. HgbE
A

c

54
Q 
Identify the hemoglobinopathy: no normal beta chain to produce HgbA
A. HgbS
B. HgbC
C. HgbSC
D. HgbE
A

C

55
Q 
Identify the hemoglobinopathy: glutamic acid substituted by lysine
A. HgbS
B. HgbC
C. HgbSC
D. HgbE
A

B

56
Q 
Identify the hemoglobinopathy: glutamic acid substituted by valine
A. HgbS
B. HgbC
C. HgbSC
D. HgbE
A

A

57
Q

Which is true?
A.Individual Hb chains are under genetic control.
B.Hb synthesis does not occur in reticulocytes.
C.Heme is synthesized in vacuoles of cells.
D.Globin chain is synthesized in mitochondria

A

A

B - meron
C - mitochondria
D - ribosomes

58
Q

Differentiate hemoglobinopathies from thalassemias

A

hemoglobinopathies - fr defects in hemoglobin structure control

thalassemias - fr defects in control of hemoglobin production rate

59
Q 
Not used to treat porphyria
A. Avoiding sunlight
B. Intravenos hematin
C. Reduce heme load by phlebotomy
D. Oral alpha-carotene
A

D

Beta-carotene dapat

60
Q 
Which does not have photosensitivity as symptom?
A. Variegate porphyria
B. Porphyria cutanae tarda
C. Acute intermittent porphyria
D. Congenital erythropoietic porphyria
A

C

61
Q

NOT hepatic class porphyria

A. Variegate porphyria
B. X-linked sideroblastic anemia
C. Acute intermittent porphyria
D. Congenital erythropoietic porphyra

A

B

62
Q 
Which enzyme, if with defect, may lead to neurovisceral symptoms?
A. Ferrochelatase
B. Protoporphyrinogen-IX oxidase
C. Uroporphyrinogen III synthase
D. NOTA
A

B

63
Q 
Most common porphyria
A. Variegate porphyria
B. Porphyria cutanae tarda
C. Acute intermittent porphyria
D. Congenital erythropoietic porphyria
A

B

PH 166 (28 decks)

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