Hemoglobinopathies (ClinCon)

Question 1

Chief complaint of patient in hemoglobinopathies

Answer 1

Pallor and weakness

Question 2

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

Answer 2

Hgb F

Question 3

Inclusion body that is seen in thalassemia

Answer 3

Heinz bodies

Question 4

Gamma chain tetramer

Answer 4

Hgb Bart

Question 5

Beta chain tetramer

Answer 5

Hgb H

Question 6

Also known as hydrops fetalis

Answer 6

Hgb Bart

Question 7

Four clinical syndromes that are present in alpha thalassemia

Answer 7

• silent carrier
• Hgb H
• Hgb Bart
• a thalassemia minor

Question 8

Type of alpha thalassemia syndrome where there is 3 genes missing

Answer 8

Hgb H

Question 9

Globin chains that are increased in beta thalassemia

Answer 9

Gamma and delta chains

Question 10

Variable degrees of severity of symptoms of thalassemia major

Answer 10

Beta thalassemia intermedia

Question 11

Give the alpha like genes

Answer 11

Alpha and zeta

Question 12

Location of beta like genes

Answer 12

Chromosome 11

Question 13

Give the beta like genes

Answer 13

Beta, delta, epsilon and gamma

Question 14

Location of alpha like genes

Answer 14

Chromosome 16

Question 15

Alpha globin monomer that contains oxidized ferric iron

Answer 15

Alpha hemichromes

Question 16

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

Answer 16

High level of Reactive Oxygen Species

Question 17

What is the age and sex of hgb case?

Answer 17

11 months old female

Question 18

Final Diagnosis in the case of hgb

Answer 18

Alpha thalassemia

Question 19

Date of publication of hgb journal

Answer 19

May 2006

Question 20

Title of hgb journal

Answer 20

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

Question 21

Type of study used in hgb journal

Answer 21

Cross sectional study

Question 22

Setting in hgb journal

Answer 22

Georgia comprehensive sickle center of emory university at grady memorial hospital

Question 23

Number of subjects in hgb journal

Answer 23

300

Question 24

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

Answer 24

SS dse- 184

Other sickling dse- 116

Question 25

Laboratory measurement used in hgb journal

Answer 25

- RIA - serum creatinine clearance - Jaffe reaction

Question 26

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

Answer 26

SS dse: 70% | Others: 40%

Question 27

Clinical Manifestation of an underlying glumerulopathy in patients with SCA

Answer 27

Macroalbuminuria

Question 28

True or False | Majority of SS disease patients are at risk for development of renal insufficiency and late renal failure

Answer 28

True

Question 29

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

Answer 29

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

Question 30

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

Answer 30

True

Question 31

True or False | Sickle cell glumerulopathy occurs in majority of older adults with SS disease

Answer 31

True

Question 32

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

Answer 32

Respiratory illness and diarrhea, respectively

Question 33

Weight and length of patient in hgb case

Answer 33

W - 6kg | L - 68 cm/ 2.23 ft/ 26.77 inches

Question 34

Hgb level and reticulocyte level of hgb case

Answer 34

H - 5.0g/dl (decreased) | R - <8% (increased)

Question 35

Differential Diagnosis in hgb case

Answer 35

- sideroblastic anemia | - microcytic anemia

Question 36

What type hemoglobin has zeta and alpha globin chains?

Answer 36

Grower 1

Question 37

Globin chains of grower 2

Answer 37

Alpha and epsilon

Question 38

Type of hgb variant seen among filipinos

Answer 38

Hgb E (mutation at beta 26)

Question 39

Percentage of Hgb F at birth

Answer 39

60 - 90%

Question 40

Other term for hgb D

Answer 40

Punjab (mutation at beta 121)

Question 41

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

Answer 41

Chain extension

Question 42

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

Answer 42

Gene Fusion

Question 43

Most common type of mutation

Answer 43

Point mutation

Question 44

Cass report of SCD in the philippines

Answer 44

2,536

Question 45

Net charge of glutamic acid and valine

Answer 45

G: -1 V: 0

Question 46

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

Answer 46

5- azacytidine

Question 47

Other term for beta thalassemia major

Answer 47

Cooley's anemia or beta-zero thalassemia

Question 48

Drugs used in iron chelation therapy

Answer 48

- deforoxamine | - defarasirox

Question 49

Vitamin B that helps build healthy red cells

Answer 49

Folic acid/ vit b9

Question 50

Globin chains in hgb portland

Answer 50

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