CHAPTER 28- THALASSEMIAS

Question 1

Often referred to as Cooley’s anemia

Thalassic (greek for “great sea”)

Answer 1

B-thalassemia major

Question 2

It is a result from a reduced or absent synthesis of one or more of the globin chains of hemoglobin.
-mutation affecting the a- or b-globin gene

Answer 2

Thalassemia or hemoglobinopathy

note: if there is a decrease or absent synthesis of one of the chains not only leads to decrease production of hemoglobin but results in imbalances in the a/b chain ratio.

Question 3

What is the major adult hemoglobin

Answer 3

Hb A (a2b2)

Question 4

Where is the a-like globin gene cluster is located?

Answer 4

Chromosome 16

Question 5

Where is the beta-like globin gene cluster is located?

Answer 5

Chromosome 11

Question 6

What does Alpha like globin gene contains ?

Answer 6

(3) three functional genes:
- HBE (epsilon-globin),
- HBA1 (a1-globin)
- HBA2 (a2-globin)

Question 7

What does beta-like globin gene contains?

Answer 7

(5) five functional genes:
- HBE (epsilon-globin),
- HBG2 (gamma y-globin),
- HBG1 (gamma A-globin),
- HBD ( Delta-globin)
- HBB( beta-globin)

Question 8

what are the genetic defect causing thalassemia

Answer 8

1. Reduced or absent production of a particular globin chains which DIMINISHED hemoglobin synthesis and produces microcytic, hypochromic RBCs
2. unequal production causing an IMBALANCE in the alpha/beta-globin ratio; this leads to a markedly DEACREASE SURVIVAL of RBCs and their precursor

NOTE: the A/B imbalance is more significant and determined the clinically severity of the thalassemia

Question 9

it is called as the premature death of RBC precursors in the bone marrow
-the none marrow is able to produce but they become dysfunctional/ not useful

Answer 9

Ineffective erythropoiesis

Question 10

“Hair on end” apperance observed in a skull radiograph of a patient. Other patient characteristics may include: frontal bossing, abnormal prominent cheecknones and upper jaw. The patient is suffering from what disease?

Answer 10

Beta Thalassemia aka Cooley’s anemia

Question 11

What is the severe form of B-thalassemia?

Answer 11

Possible PBS findings may show target cells, dacrocytes, elliptocytes, nucleated RBCs, basophilic stippling, Howell-jolly bodies and pappenheimer bodies.

Question 12

group of inherited disorder causing decreased rate of synthesis of a structurally normal globin chain

Answer 12

THALASSEMIA

Question 13

severe anemia; either no alpha or no bet chains produced

Answer 13

Thalassemia major

Question 14

mild anemia; sufficient alpha and beta chains produced to make normal hemoglobinA, A2, and F but maybe abnormal amount

Answer 14

Thalassemia minor

Question 15

The paramount in the diagnosis of thalassemia

Answer 15

Individual and family history

Question 16

screening for thalassemia

Answer 16

CBC, PBS , and iron studies

Question 17

Charaterized by all FOUR alpha genes are deleted and no normal hemoglobin are produced

Answer 17

Alpha thalassemia Major (hydrops fetalis)

Question 18

Three alpha genes deleted. decrease in alpha chains leads to beta chain excess
-heinz bodies present
-common in asian

Answer 18

Hemoglobin H disease (transfusion dependent )

Question 19

two alpha genes are deleted and usually asymptomatic

Answer 19

ALpha thalassemia Minor / trait

Question 20

one alpha gene is delete

Answer 20

Silent carrier

Question 21

markedly decrease rate of synthesis or absence of both beta chain resulting to an excess of alpha chain

Answer 21

Beta thalassemia major (cooley anemia)

Question 22

decrease rate of synthesis of one of the beta chain

Answer 22

Beta thalassemia minor /trait

Question 23

with severe hemolytic anemia

Answer 23

BETA THALASSEMIA MAJOR

Question 24

with mild to moderate hemolytic anemia

Answer 24

BETA THALASSEMIA INTERMEDIA

Question 25

with Mild hemolytic anemia

Answer 25

BETA THALASSEMIA MINOR

Question 26

with no hematologic abnormalities

Answer 26

SILENT CARRIER