Thalassemia Syndromes Flashcards Preview

Hematology Module 1 and 2 > Thalassemia Syndromes > Flashcards

Flashcards in Thalassemia Syndromes Deck (47):
1

State the hemoglobin molecule defect found in thalasssemias,

Globin Chain

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

Gene selection, Similar to sickle cell.

3

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

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

4

What is meant by Beta^0 thalassemia?

No Beta chain production

5

What is meant by Beta^+ thalassemia?

Reduced/no Beta chain production

6

What is meant by Alpha^0 thalassemia?

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

7

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

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

8

What is cooley's anemia?

Beta thalassemia major

9

What is the pathology of Beta thalassemia major?

Reduced Beta chain production

10

What is the ethnic distribution of Beta thalassemia major?

Mediterranean area and southeast Asia

11

What are the clinical features of Beta thalassemia major?

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

12

What are the CBC results of Beta thalassemia major?

Too many RBC for HGB

13

What is the RBC morphology for Beta thalassemia major?

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

14

What is the retic count of Beta thalassemia major?

Increased 1-8%

15

What is the BM exam of Beta thalassemia major?

Marked expansion = skeletal disease

16

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

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

17

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

Expansion of BM

18

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

Too many RBC for HGB

19

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

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

20

What is the pathology of Beta thalassemia minor?

Reduced rate of Beta chain production

21

What is the ethnic distribution of Beta thalassemia minor?

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

22

What are the clinical features of Beta thalassemia minor?

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

23

What are the CBC results of Beta thalassemia minor?

Too many RBC for HGB

24

What is the RBC morphology for Beta thalassemia minor?

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

25

What is the retic count of Beta thalassemia minor?

Occasional

26

What is the electrophilic pattern of Beta thalassemia minor?

A>A2 (increased) >F (increased)

27

What is the BM exam of Beta thalassemia minor?

Mild-moderate erythroid hyperplasia, increased iron stores

28

What is the treatment for Beta thalassemia Major?

Regular transfusions

29

What is the treatment for Beta thalassemia Minor?

Not usually treated

30

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

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

IDA
RBC count = Decreased
HGB Value =

31

What is the pathology of Hydrops syndrome?

No Alpha cell production

32

What is the globin chain makeup of Hydrops syndrome?

Barts = 4 gamma

33

What is the ethnic distribution of Hydrops syndrome?

SE Asia and Filipino

34

What is the compatibility with life of Hydrops syndrome?

Not compatible

35

What is the pathology of Hemoglobin H disease?

Only one gene functions

36

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

H = Beta 4

37

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

Pitted golf ball.

38

What is the pathology of Hemoglobin Lepore?

Fused delta and Betha

39

What is the hemoglobin produced in Hemoglobin Lepore?

Hemoglobin F

40

What is Hereditary persistence of Hemoglobin F?

no switch = persistence of F

41

What is the principe of Klihauer-Betke stain?

Distribution of F in RBC

42

What is the normal values of Klihauer-Betke stain?

None = no color/lysis F = Dark Pink

43

What is the staining pattern of Klihauer-Betke stain?

Ghost - HGB A
Dark pink = F

44

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

Speckled/ inconsistant

45

What is the composition of Heinz in Beta than?

Alpha

46

What is the composition of Heinz in Alpha^0?

Gamma 4

47

What is the composition of Heinz in Hemoglobin H

Beta