Thalassemia

Question 1

characteristic of thalassemia

Answer 1

untreated beta

Question 2

described 4 children with thalassemia

Answer 2

cooley & lee

Question 3

other name of thalassemia major

Answer 3

cooley’s anemia

Question 4

• autopsy
• high incidence of mediterranean descent
• greek: thalassic (great sea)

Answer 4

Whipple & Bradford

Question 5

• characterized by a reduction or total absence of synthesis of one or more of the globin chains of hemoglobin

Answer 5

thalassemia

Question 6

total lack of alpha- or beta- globin production

Answer 6

thalassemia major

Question 7

production at a decreased rate is known as

Answer 7

thalassemia minor

Question 8

pathophysiology of thalassemia

Answer 8

• decrease Hgb synthesis (microcytic, hypochromic)

- imbalance of globin chains (damage to RBC)

Question 9

in thalassemia syndromes, erythrocyte indices generally indicate a

Answer 9

microcytic, hypochromic anemia

Question 10

erythrocyte abnormalities in thalassemia include

Answer 10

• nucleated red cells
• microcytosis
• hypochromia
• anisocytosis
• poikilocytosis
• polychromasia
• basophilic stippling
• target cells

Question 11

associated w. a decrease in the production of alpha chains

Answer 11

Alpha thalassemia

Question 12

associated w. a decrease in the production in beta cha

Answer 12

beta-thalassemia

Question 13

• gamma chains are more stable, do not precipitate but form Hb bart
• beta-gamma switching
• RBC age in circulation forming inclusion

Answer 13

Mechanisms of alpha-thalassemia

Question 14

-very high affinity to oxygen, cannot release oxygen

Answer 14

Hb bart

Question 15

excess bata chain in a-thalassemia

Answer 15

Hb H

Question 16

single gene deletion of thalassemia

Answer 16

silent carrier state (normal lab test)

Question 17

two gene deletion of thalassemia

Answer 17

alpha-thalassemia trait or minor

Question 18

three gene deletion of thalassemia

Answer 18

Hb H disease

Question 19

four gene deletion of thalassemia

Answer 19

Hemoglobin Bart’s (hydrops fetalis)

Question 20

• composed of 4 beta chains

- resemble golf ball because of the pitted inclusion

Answer 20

HbH

Question 21

pitted golf ball appearance of Hb is made possible by staining with

Answer 21

brilliant cresyl blue

Question 22

generally occur in multiples & cover the cell surface

Answer 22

Hb inclusion

Question 23

are usually eccentrically located & there are very few cell in Hb H

Answer 23

Heinz bodies

Question 24

• lethal disorder (infant are usually stillborn or die w/ in hours of birth
• Hb Barts

Answer 24

Barts hydrops fetalis

Question 25

lab results of barts hydrops fetalis in PBS

Answer 25

hypochromia, variable reticulocytosis, nRBCs

Question 26

lab results of barts hydrops fetalis in Hb electrophoresis

Answer 26

fast moving ban (alkaline pH)

Question 27

- decrease beta chain--> accumulation of alpha chain - alpha chain precipitate - RBC phagocytized in the BM

Answer 27

mechanism of b-thalassemia (ineffective erythropoiesis)

Question 28

- symptoms appear 6 months of age | - beta gamma switching

Answer 28

mechanism of b-thalassemia (extravascular hemolysis)

Question 29

severe anemia accompanied by iron overload

Answer 29

Thalassemia major (Cooley's anemia)

Question 30

moderate anemia

Answer 30

Thalassemia intermedia

Question 31

asymptomatic may or may not produce mild anemia

Answer 31

Thalassemia minor (Cooley's trait)

Question 32

causes no detectable clinical or routine laboratory abnormalities

Answer 32

Thalassemia minima

Question 33

physical abnormalities of beta thalassemia major

Answer 33

- radiograph of long bone (lacy or lucent appearance) - radiograph of skull ( hair on end appearance) - frontal bossing, cheekbones, upper jaw - iron accumulation

Question 34

prominence of forehead

Answer 34

frontal bossing

Question 35

beta thalassemia major in children

Answer 35

growth retardation | - absence of sexual maturity

Question 36

beta thalassemia major in adults

Answer 36

- cardiomyopathy - fibrosis - cirrhosis - dysfunction of exocrine glands

Question 37

- transfusion dependent | - cardiac failure may cause in teens

Answer 37

beta thalassemia major

Question 38

therapy for beta thalassemia major

Answer 38

iron chelation therapy

Question 39

in beta thalassemia major there is an increased

Answer 39

Hb A2 & Hb F