Hemoglobinopathies

Question 1

due to the differences in the arrangement of amino acids in the polypeptide chain

Answer 1

Hemiglobinopathies

Question 2

most frequently occuring hemoglobinopahies

Answer 2

Beta-hemoglobinopathies

Question 3

Most severe, most common among Abn hemoglobins present in B-Hgbnopathies

Answer 3

Hb S

Question 4

Structural formula of Hb S

Answer 4

a2 B2 6GLUC–>VAL

Question 5

2nd most common Abn hemoglobin

Answer 5

Hb C

Question 6

Structural formula of Hb C

Answer 6

a2 B2 6GLUC—>Lys

Question 7

3rd most common Abn Hemoglobin

Answer 7

Hb E

Question 8

structural formula of Hb E

Answer 8

a2 B2 26GLUC—>Lys

Question 9

M hemoglobins associated w/ methemoglobin and cyanosis

Answer 9

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

Question 10

Abn hgb associate w/ ^ O2 affinity

Answer 10

Hb Hiroshima
Hb Rainier
Hb Bethesda

Question 11

Abn Hgb associated w/ Decrease O2 affinity

Answer 11

Hb Agenogi
Hb Beth Israel
Hb Yoshizuka

Question 12

a reducing agent which deoxygenates Hb causes formation of crystals to identify sickle cells under microscope

Answer 12

Sodium metabisulfite method

Question 13

Positive result in Sodium Metabisulfite method

Answer 13

presence of sickle cells or holly-leaf form of RBC

Question 14

RBCs are added to the working solution containing Sodium dithionite and saponin the red cell immediately lyse

Answer 14

Sodium dithionite tube test (Solubility test)

Question 15

Turbid Black line is NOT Visible through the test solution

Answer 15

Positive result of Sodium dithionite tube test

Question 16

Clear solution Black lines VISIBLE through the test solution

Answer 16

Negative result of Sodium dithionite tube test

Question 17

Considered as the Primary screening procedure to detect variant Abn hemoglobins

Answer 17

Cellulose acetate

Question 18

use to confirm variant hgb and further differentiates hgb S from D and G

Answer 18

Citrate Agar

Question 19

characteristic appearance: Washington Monument, found protruding the RBC membrane

Answer 19

Hb SC crystals

Question 20

Bar of Gold, found within the RBC membrane

Answer 20

Hb CC crystals

Question 21

other names of Thalassemia

Answer 21

Hereditary Leptocytosis
Mediterranean anemia

Question 22

named according to the chain with reduced or absent synthesis

Answer 22

Thalassemias

Question 23

Typically caused by a deletion of one, two, three or all four of the a-globin genes, results in reduced/ absent production of a chains

Answer 23

Alpha Thalassemia

Question 24

One of four genes deleted, Asymptomatic

Answer 24

Silent carrier state (a-thalassemia)

Question 25

two of four gene deleted, Mild microcytic hypochromic anemia

Answer 25

a-thalassemia trait/ a-thalassemia minor

Question 26

Three of four gene deleted, Microcytic hypochromic anemia

Answer 26

Hb H disease

Question 27

Hb H may coexist with a more severe disease called

Answer 27

Hb constant spring

Question 28

Most severe form of alpha thalassemia, all four genes deleted

Answer 28

Hb Bart hydrops fetalis/ a-thalassemia major

Question 29

caused by mutations that affect the B-globin gene complex

Answer 29

Beta-Thalassemia

Question 30

Asymptomatic, Normal hematologic parameters
B silent/ B

Answer 30

B-Thal. Silent Carrier State

Question 31

most severe form of B thalassemia, Transfussion dependent

Answer 31

B-thalassemia Major/ Cooley’s Anemia

Question 32

moderate, clinical symptoms, transfussion-INDEPENDENT

Answer 32

B-thalassemia INtermedia

Question 33

B-thalassemia Major patients’ characteristics ‘‘FISP’’

Answer 33

Frontal bossing
Prominent cheekbones and upper jaw
Skull radiographs
Iron accumulation