Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Clinical Correlates (Biochem) > Hemoglobinopathies (ClinCon) > Flashcards

Hemoglobinopathies (ClinCon) Flashcards

1
Q

Chief complaint of patient in hemoglobinopathies

A

Pallor and weakness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Begins in early embryogenesis; peaks during mid-gestation and declines rapidly just before birth

A

Hgb F

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Inclusion body that is seen in thalassemia

A

Heinz bodies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Gamma chain tetramer

A

Hgb Bart

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Beta chain tetramer

A

Hgb H

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Also known as hydrops fetalis

A

Hgb Bart

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Four clinical syndromes that are present in alpha thalassemia

A
  • silent carrier
  • Hgb H
  • Hgb Bart
  • a thalassemia minor
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Type of alpha thalassemia syndrome where there is 3 genes missing

A

Hgb H

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Globin chains that are increased in beta thalassemia

A

Gamma and delta chains

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Variable degrees of severity of symptoms of thalassemia major

A

Beta thalassemia intermedia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Give the alpha like genes

A

Alpha and zeta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Location of beta like genes

A

Chromosome 11

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Give the beta like genes

A

Beta, delta, epsilon and gamma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Location of alpha like genes

A

Chromosome 16

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Alpha globin monomer that contains oxidized ferric iron

A

Alpha hemichromes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What triggers Fas cell surface death receptor and Fas-ligand pathway to be activated?

A

High level of Reactive Oxygen Species

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is the age and sex of hgb case?

A

11 months old female

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Final Diagnosis in the case of hgb

A

Alpha thalassemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Date of publication of hgb journal

A

May 2006

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Title of hgb journal

A

Glomerular involvement in adults with sickle cell hgb: prevalence and correlates

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Type of study used in hgb journal

A

Cross sectional study

22
Q

Setting in hgb journal

A

Georgia comprehensive sickle center of emory university at grady memorial hospital

23
Q

Number of subjects in hgb journal

A

300

24
Q

Number of subjects with ss disease and other sickling dse in hgb journal

A

SS dse- 184

Other sickling dse- 116

25
Q

Laboratory measurement used in hgb journal

A
  • RIA
  • serum creatinine clearance
  • Jaffe reaction
26
Q

Increased AER in SS disease and other sickling dse occurs approximately in what percentage?

A

SS dse: 70%

Others: 40%

27
Q

Clinical Manifestation of an underlying glumerulopathy in patients with SCA

A

Macroalbuminuria

28
Q

True or False

Majority of SS disease patients are at risk for development of renal insufficiency and late renal failure

A

True

29
Q

True or False
Chronic anemia is solely responsible for the development of sickle cell glumerulopathy and indicates that other mechanism are not involved in the pathogenesus of glomerular damage of hgb study

A

False: Chronic anemia is not solely responsible for the development of sickle cell glumerulopathy and indicates that other mechanism are involved in the pathogenesus of glomerular damage of hgb study

30
Q

True or False

BMI were associated with a reduction in creatinine clearance in both SS disease and other sickling disorder

A

True

31
Q

True or False

Sickle cell glumerulopathy occurs in majority of older adults with SS disease

A

True

32
Q

In the case of hgb the patient was admitted during her 6 months and eight moths due to?

A

Respiratory illness and diarrhea, respectively

33
Q

Weight and length of patient in hgb case

A

W - 6kg

L - 68 cm/ 2.23 ft/ 26.77 inches

34
Q

Hgb level and reticulocyte level of hgb case

A

H - 5.0g/dl (decreased)

R - <8% (increased)

35
Q

Differential Diagnosis in hgb case

A
  • sideroblastic anemia

- microcytic anemia

36
Q

What type hemoglobin has zeta and alpha globin chains?

A

Grower 1

37
Q

Globin chains of grower 2

A

Alpha and epsilon

38
Q

Type of hgb variant seen among filipinos

A

Hgb E (mutation at beta 26)

39
Q

Percentage of Hgb F at birth

A

60 - 90%

40
Q

Other term for hgb D

A

Punjab (mutation at beta 121)

41
Q

Type of mutation which occurs when the stop codon is mutated, so that translation continues beyond the typical last codon

A

Chain extension

42
Q

Type of mutation which occurs when the two normal gene nucleotides, switch positions, and anneal to the opposite gene

A

Gene Fusion

43
Q

Most common type of mutation

A

Point mutation

44
Q

Cass report of SCD in the philippines

A

2,536

45
Q

Net charge of glutamic acid and valine

A

G: -1
V: 0

46
Q

An antitumor drug that prevents DNA methylation or inhibition of gamma globin gene

A

5- azacytidine

47
Q

Other term for beta thalassemia major

A

Cooley’s anemia or beta-zero thalassemia

48
Q

Drugs used in iron chelation therapy

A
  • deforoxamine

- defarasirox

49
Q

Vitamin B that helps build healthy red cells

A

Folic acid/ vit b9

50
Q

Globin chains in hgb portland

A

Zeta and gamma

(Alam niyo yung portland cement? ZeGa sa tibay) hahahaha

Clinical Correlates (Biochem) (4 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions