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Hematology Module 1 and 2 > Thalassemia Syndromes > Flashcards

Thalassemia Syndromes Flashcards

1
Q

State the hemoglobin molecule defect found in thalasssemias,

A

Globin Chain

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2
Q

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

A

Gene selection, Similar to sickle cell.

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3
Q

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

A 
A = alpha2, beta2 = >95%
A2 = Alpha 2, Delta2 = 0.5-3%
F = Alpha 2, Gamma2 = (>/= to) 2%
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4
Q

What is meant by Beta^0 thalassemia?

A

No Beta chain production

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5
Q

What is meant by Beta^+ thalassemia?

A

Reduced/no Beta chain production

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6
Q

What is meant by Alpha^0 thalassemia?

A

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

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7
Q

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

A

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

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8
Q

What is cooley’s anemia?

A

Beta thalassemia major

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9
Q

What is the pathology of Beta thalassemia major?

A

Reduced Beta chain production

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10
Q

What is the ethnic distribution of Beta thalassemia major?

A

Mediterranean area and southeast Asia

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11
Q

What are the clinical features of Beta thalassemia major?

A

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

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12
Q

What are the CBC results of Beta thalassemia major?

A

Too many RBC for HGB

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13
Q

What is the RBC morphology for Beta thalassemia major?

A

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

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14
Q

What is the retic count of Beta thalassemia major?

A

Increased 1-8%

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15
Q

What is the BM exam of Beta thalassemia major?

A

Marked expansion = skeletal disease

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16
Q

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

A

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

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17
Q

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

A

Expansion of BM

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18
Q

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

A

Too many RBC for HGB

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19
Q 
State the results of the following tests with beta thal major...
Plasma Haptoglobin,
Serum Bilirubin, 
Serum ferritin,
serum iron
A

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

20
Q

What is the pathology of Beta thalassemia minor?

A

Reduced rate of Beta chain production

21
Q

What is the ethnic distribution of Beta thalassemia minor?

A

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

22
Q

What are the clinical features of Beta thalassemia minor?

A

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

23
Q

What are the CBC results of Beta thalassemia minor?

A

Too many RBC for HGB

24
Q

What is the RBC morphology for Beta thalassemia minor?

A

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

25
Q

What is the retic count of Beta thalassemia minor?

A

Occasional

26
Q

What is the electrophilic pattern of Beta thalassemia minor?

A

A>A2 (increased) >F (increased)

27
Q

What is the BM exam of Beta thalassemia minor?

A

Mild-moderate erythroid hyperplasia, increased iron stores

28
Q

What is the treatment for Beta thalassemia Major?

A

Regular transfusions

29
Q

What is the treatment for Beta thalassemia Minor?

A

Not usually treated

30
Q 
Compare and contrast Beta than major, with Iron deficiency in regards to...
RBC count
HGB Value
HGB A2 level
ZPP
A 
Beta Thal
RBC count = Increased
HGB Value = >10
HGB A2 level = >5%
ZPP = normal

IDA
RBC count = Decreased
HGB Value =

31
Q

What is the pathology of Hydrops syndrome?

A

No Alpha cell production

32
Q

What is the globin chain makeup of Hydrops syndrome?

A

Barts = 4 gamma

33
Q

What is the ethnic distribution of Hydrops syndrome?

A

SE Asia and Filipino

34
Q

What is the compatibility with life of Hydrops syndrome?

A

Not compatible

35
Q

What is the pathology of Hemoglobin H disease?

A

Only one gene functions

36
Q

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

A

H = Beta 4

37
Q

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

A

Pitted golf ball.

38
Q

What is the pathology of Hemoglobin Lepore?

A

Fused delta and Betha

39
Q

What is the hemoglobin produced in Hemoglobin Lepore?

A

Hemoglobin F

40
Q

What is Hereditary persistence of Hemoglobin F?

A

no switch = persistence of F

41
Q

What is the principe of Klihauer-Betke stain?

A

Distribution of F in RBC

42
Q

What is the normal values of Klihauer-Betke stain?

A

None = no color/lysis F = Dark Pink

43
Q

What is the staining pattern of Klihauer-Betke stain?

A

Ghost - HGB A

Dark pink = F

44
Q

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

A

Speckled/ inconsistant

45
Q

What is the composition of Heinz in Beta than?

A

Alpha

46
Q

What is the composition of Heinz in Alpha^0?

A

Gamma 4

47
Q

What is the composition of Heinz in Hemoglobin H

A

Beta

Hematology Module 1 and 2 (9 decks)

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