Thalassemia Syndromes

Question 1

State the hemoglobin molecule defect found in thalasssemias,

Answer 1

Globin Chain

Question 2

Describe the suspected reasoning for the same geographic distribution that coincide with the incidence of malaria and the heterozygous state of the thalassemia syndromes

Answer 2

Gene selection, Similar to sickle cell.

Question 3

State the global chain composition and percentages of the three normal adult hemoglobins.

Answer 3

A = alpha2, beta2 = >95%
A2 = Alpha 2, Delta2 = 0.5-3%
F = Alpha 2, Gamma2 = (>/= to) 2%

Question 4

What is meant by Beta^0 thalassemia?

Answer 4

No Beta chain production

Question 5

What is meant by Beta^+ thalassemia?

Answer 5

Reduced/no Beta chain production

Question 6

What is meant by Alpha^0 thalassemia?

Answer 6

No Alpha chain production (Bart’s produced which is 4 gamma)

Question 7

List the four genetic possibilities that may occur with an alpha thalassemia.

Answer 7

No alpha production,
one alpha chain functioning,
two alpha chains functioning,
three alpha chains functioning,

Question 8

What is cooley’s anemia?

Answer 8

Beta thalassemia major

Question 9

What is the pathology of Beta thalassemia major?

Answer 9

Reduced Beta chain production

Question 10

What is the ethnic distribution of Beta thalassemia major?

Answer 10

Mediterranean area and southeast Asia

Question 11

What are the clinical features of Beta thalassemia major?

Answer 11

Early childhood onset (6month-2 years), hemolytic, shortened life span (4th decade), hair on end and jaw bone jut,

Question 12

What are the CBC results of Beta thalassemia major?

Answer 12

Too many RBC for HGB

Question 13

What is the RBC morphology for Beta thalassemia major?

Answer 13

Marked aniso, poly, hypo, micro, schistocytes, spheres, tears, H-J, Basophilic stippling, heinz bodies (alpha) and nRBC

Question 14

What is the retic count of Beta thalassemia major?

Answer 14

Increased 1-8%

Question 15

What is the BM exam of Beta thalassemia major?

Answer 15

Marked expansion = skeletal disease

Question 16

What are the two mechanisms responsible for early cell destruction as seen in beta thalassemia major?

Answer 16

Reduced/absent Beta chain = excess Alpha which deposit as heinz = pitted out and membrane damage in BM and PB.

Question 17

What are the reasons for Hair on end and Mongoloid appearance to face?

Answer 17

Expansion of BM

Question 18

What are the typical CBC results for that patins with regard to rule of three?

Answer 18

Too many RBC for HGB

Question 19

State the results of the following tests with beta thal major...
Plasma Haptoglobin,
Serum Bilirubin, 
Serum ferritin,
serum iron

Answer 19

Plasma Haptoglobin = Decreased
Serum Bilirubin = Increased
Serum ferritin = Increased
serum iron = Increased

Question 20

What is the pathology of Beta thalassemia minor?

Answer 20

Reduced rate of Beta chain production

Question 21

What is the ethnic distribution of Beta thalassemia minor?

Answer 21

Mediterranean sea, SE Asia, Black population of West Africa/North America

Question 22

What are the clinical features of Beta thalassemia minor?

Answer 22

Usually mild to asymptomatic. Dress can cause hemolytic anemia, slight splenomegaly and normal lifespan.

Question 23

What are the CBC results of Beta thalassemia minor?

Answer 23

Too many RBC for HGB

Question 24

What is the RBC morphology for Beta thalassemia minor?

Answer 24

Slight- moderate poik, slight poly, slight hypo, slight-mod micro, Basophilic stippling, Heinz, Occasional nRBC

Question 25

What is the retic count of Beta thalassemia minor?

Answer 25

Occasional

Question 26

What is the electrophilic pattern of Beta thalassemia minor?

Answer 26

A>A2 (increased) >F (increased)

Question 27

What is the BM exam of Beta thalassemia minor?

Answer 27

Mild-moderate erythroid hyperplasia, increased iron stores

Question 28

What is the treatment for Beta thalassemia Major?

Answer 28

Regular transfusions

Question 29

What is the treatment for Beta thalassemia Minor?

Answer 29

Not usually treated

Question 30

``` Compare and contrast Beta than major, with Iron deficiency in regards to... RBC count HGB Value HGB A2 level ZPP ```

Answer 30

``` Beta Thal RBC count = Increased HGB Value = >10 HGB A2 level = >5% ZPP = normal ``` IDA RBC count = Decreased HGB Value =

Question 31

What is the pathology of Hydrops syndrome?

Answer 31

No Alpha cell production

Question 32

What is the globin chain makeup of Hydrops syndrome?

Answer 32

Barts = 4 gamma

Question 33

What is the ethnic distribution of Hydrops syndrome?

Answer 33

SE Asia and Filipino

Question 34

What is the compatibility with life of Hydrops syndrome?

Answer 34

Not compatible

Question 35

What is the pathology of Hemoglobin H disease?

Answer 35

Only one gene functions

Question 36

What is the global chain make up of Hemoglobin H disease?

Answer 36

H = Beta 4

Question 37

What is the unusual characteristic of Heinz bodies in Hemoglobin H disease?

Answer 37

Pitted golf ball.

Question 38

What is the pathology of Hemoglobin Lepore?

Answer 38

Fused delta and Betha

Question 39

What is the hemoglobin produced in Hemoglobin Lepore?

Answer 39

Hemoglobin F

Question 40

What is Hereditary persistence of Hemoglobin F?

Answer 40

no switch = persistence of F

Question 41

What is the principe of Klihauer-Betke stain?

Answer 41

Distribution of F in RBC

Question 42

What is the normal values of Klihauer-Betke stain?

Answer 42

None = no color/lysis F = Dark Pink

Question 43

What is the staining pattern of Klihauer-Betke stain?

Answer 43

Ghost - HGB A | Dark pink = F

Question 44

What is the staining pattern with hemoglobinapathies of Klihauer-Betke stain?

Answer 44

Speckled/ inconsistant

Question 45

What is the composition of Heinz in Beta than?

Answer 45

Alpha

Question 46

What is the composition of Heinz in Alpha^0?

Answer 46

Gamma 4

Question 47

What is the composition of Heinz in Hemoglobin H

Answer 47

Beta