HEMA LEC - Alpha Thalassemias

Question 1

Indicates division between genes inherited from both parents

Answer 1

/

Question 2

the total complement of a genes in an individual is

Answer 2

4

Question 3

Indicates a gene deletion

Answer 3

-

Question 4

(one gene deletion)



Answer 4

a+ Thalassemia

Question 5

3 functional working genes

Called a thal 2.

Answer 5

a+ Thalassemia

Question 6

two gene deletion in the same chromosome

Answer 6

a0 Thalassemia

Question 7

2 functional working genes. - Called a thal 1

Answer 7

a0 Thalassemia

Question 8

denotes nonfunctioning (mutated gene, not deletion) gene:

Answer 8

Superscript T

Question 9

defects in alpha globin affecting the formation of both fetal and adult hemoglobins

Answer 9

alpha thalassemia

Question 10

can manifest in utero because alpha chain is a component of both fetal and adult Hb

Answer 10

alpha thalassemia

Question 11

more stable

do not precipitate but instead form Hb tetramers called Hb Bart

Answer 11

gamma chains

Question 12

gamma chains more stable

do not precipitate but instead form Hb tetramers called ______

Answer 12

Hb Bart

Question 13

Is usually caused by deletion of 1 or more of the 4 α globin genes on chromosome 16

Answer 13

α Thalassemia

Question 14

physiologically useless Hb (have

very high affinity to oxygen)

Answer 14

Hb Bart and Hb H

Question 15

massive edema

Answer 15

(hydrops fetalis)

Question 16

_____ accumulation and deposition are more toxic than __ chain accumulation and deposition.

Answer 16

Alpha chain

Question 17

which is more severe: alpha or beta thalassemia

Answer 17

beta thalassemia

Question 18

clinical syndromes

-α/αα

Answer 18

silent carrier α thalassemia

Question 19

treatment for silent carrier α thalassemia

Answer 19

none

Question 20

detection of silent carrier α thalassemia

Answer 20

DNA studies

Question 21

hgb and hct of silent carrier α thalassemia

Answer 21

normal

Question 22

Caused by two missing alpha genes. May be homozygous (-α/-α) or heterozygous (–/αα).

Answer 22

Alpha Thalassemia Minor.

Question 23

• Exhibits mild microcytic, hypochromic anemia.

Answer 23

Alpha Thalassemia Minor.

Question 24

•     May be confused with iron deficiency anemia.

Answer 24

Alpha Thalassemia Minor.

Question 25

• Although some Bart’s hemoglobin (g4) present at birth, but no Bart’s hemoglobin present in adults

Answer 25

Alpha Thalassemia Minor.

Question 26

2nd most severe form of alpha thalassemia

Answer 26

Hb H disease

Question 27

usually caused by presence of only one intact alpha gene producing alpha chains

Answer 27

Hb H disease

Question 28

results in accumulation of excess unpaired gamma or beta chains
born with 10-40% Bart’s Hb. Gradually replaced with Hb H
In adult, have about 5-40% Hb H

Answer 28

Hb H disease

Question 29

live normal life; however, infections, pregnancy, exposure to oxidative drugs may trigger hemolytic crisis.


Answer 29

Hb H disease

Question 30

RBCs: microcytic/hypochromic with marked poikilocytosis

Numerous target cells

Answer 30

Hb H disease

Question 31

In Hgb electrophoresis, fast moving band is correspondent to

Answer 31

Hb H

Question 32

What Hb is vulnerable to oxidation

Answer 32

Hb H

Question 33

Gradually precipitate in vivo to form Heinz-like bodies of denatured Hgb

Answer 33

Hb H

Question 34

cells has been described as having golf ball appearance, esp. when stained with brilliant cresyl blue

Answer 34

Hb H disease

Question 35

Hb H prep same as Retic prep but with extended time of incubation, instead of 15 min it will be

Answer 35

2 hrs

Question 36

Most severe form.

Answer 36

Bart’s Hydrops Fetalis Syndrome

Question 37

Incompatible with life.

Answer 37

Bart’s Hydrops Fetalis Syndrome

Question 38

Have no functioning α chain genes (- -/- -).

Answer 38

Bart’s Hydrops Fetalis Syndrome

Question 39

edema and ascites caused by accumulation serous fluid in fetal tissues as result of severe anemia

Answer 39

hydrops fetalis

Question 40

Also we will see hepatosplenomegaly and cardiomegaly.

Answer 40

Bart’s Hydrops Fetalis Syndrome

Question 41

Types of Hb in Bart’s Hydrops Fetalis Syndrome [3]

Answer 41

Hb Bart, along with Hb Portland and traces of HbH.

Question 42

The blood film of neonate with hemoglobin Bart’s hydrops fetalis shows [3]

Answer 42

anisocytosis, poikilocytosis and numerous nucleated red blood cells (NRBC).

Question 43

Only and only the presence of few

the peripheral blood of the ____ is considered normal.

Answer 43

newborn

Question 44

Micro / Hypo
Mild Anemia
Bart’s 2-8% (at birth)
Hb H

Answer 44

Hetero a° a-thal-1 OR Homo a+ a-thal-1

Question 45

Moderate Micro/Hypo anemia: Barts

Answer 45

a+ + a° Hb-H

Disease

Question 46

Hb A 0%, Bart’s 70-80% Portland 10-20%

Answer 46

homo a° Hydrops

Question 47

different types of Hgb contain different ____ which determine the electrophoretic mobility and gives specific bands on electophoretic papers when hemolystae is undergone electrophoresis

Answer 47

surface charge

Question 48

Hgb that can be measured by EF

Answer 48

A, A2, Bart, C, D, E, F, H, S