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M2M2 > Thalassemia > Flashcards

Thalassemia Flashcards

1
Q

Normal Hemogblobin
HbF (alpha2gamma2)
HbA (alpha2beta2)
HbA2 (alpha2delta2)

proportions at birth and 2yr

A 
Birth
HbF 60-90%
HbA 10-40%
HbA2 95%
HbA2
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2
Q

Why is it important to be able to diagnose a bambino with sickle cell even though they can use fetal until around 6 mos?

A

Because they frequently have infarcts - which messes up their spleen - so even though bambinos with sickle may not show sickle traits until 6mos they can have infections

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3
Q

How do you prevent infections in bambinos with sickle?

A

Give penicillin

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4
Q

Qualitative hemoglobinopathies

A

HbS
HbC
HbE

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5
Q

All qualitative hemoglobinopathies are a consequence of ?

A

Beta chain issues

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6
Q

Quantitative hemoglobinopathies

A

alpha thalassemia
beta thalassemia

gamma
delta

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7
Q

Hemoglobin S
Homozygous?
Heterozygous?
Syndromes?

A 
Homo = SS disease
Hetero = AS, sickle trait
Sickle syndromes
- Hemoglobin SC hemoglobinopathy 
- SBo thalassemia
- SB+ thalassemia
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8
Q

Hemoglobin C

3

A

Homozygous CC hemoglobinopathy
Heterozygous C, e.g. AC, or C trait
C-beta thalassemia

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9
Q

Hemoglobin E

A

Homozygous E
Heterozygous AE
Combination: E-beta thalassemia

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10
Q

What is hemoglobin E

A

one of the most common mutated forms of hemoglobin in SE Asia
Asymptomatic unless express with beta thalassemia

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11
Q

Hemoglobinopathies

Carriers in world

A

269 million

0.5%ish

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12
Q

What percent of Africans are S carriers?

A

15

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13
Q

What percent of SE Asians are E carriers?

A

7%

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14
Q

What percent of SE Asian and Mediterranean are beta thal carriers?

A

4-5%

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15
Q

How many babies are born with major hemoglobin disorder / year?

A

350,000

Majority die undiagnosed, untreated, or undertreated

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16
Q

Where is SS distributed?

A

Mid Africa

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17
Q

Where is HbC?

A

West Africa

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18
Q

Where is thalassemia

A

Southern Eurasia / North Africa

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19
Q

Where is HbE

A

SE Asia

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20
Q

Why the distribution of Hemoglobinopathies?

A

Protect against malaria

21
Q

Hemoglobin mutations by region

SE Asia?

A

alpha thalassemia
beta thalassemia
and HbE

22
Q

Mutations by region

Africa?

A

HbS
HbC
alpha thalassemia
beta thalassemia

23
Q

Mutations by region

West Pacific

A

alpha thalassemia
beta thalassemia
HbE

24
Q

Mutations by region

East Meditteranean

A

Beta thalassemia

HbS

25
Q

Thalassemia

Definition

A

a disorder in which a reduced rate of one or more of the globin chain synthesis lead to imbalanced globin chain production, defective hemoglobin production, and damage to RBCs and their precurssors

26
Q

Thalassa

emia

A

Thalassa - sea

emia - blood

27
Q

5 types of alpha thalassemia

A

alpha thalassemia major (no alpha globin)

alpha thalassemia 3 gene deletion (HgbH disease)

alpha thalassemia 2 gene deleation (alpha thalassemia trait)

alpha thalassemia 1 gene deletion (clinically insignificant)

alpha thalassemia + Hgb constant spring

28
Q

Beta thalassemia (5)

A

Beta thalassemia major (Cooley’s anemia)

beta thalassemia intermedia

bet thalassemia trait

SBo thalassemia

SB+ thalassemia

29
Q

2 Mechanisms of RBC destruction in thalassemia?

A

Ineffective erythropoeisis

Hemolysis

30
Q

Ineffective erythropoeisis

A

can’t make good RBCs (intramedullary) excess of alpha or beta chains –> inclusion bodies (protein aggregate) –> apopotosis

31
Q

Hemolysis

A

abnormal RBCs targetet for destruction

32
Q

beta thalassemia minor (beta thalassemia trait)

2 beta genes?

A

1 normal

1 abnormal

33
Q

beta thalassemia minor

degree of anemia?

A

none-mild

34
Q

beta thalassemia minor

MCV?

A

Low-normal

low

35
Q

Beta thalassemia minor

Transfusion dependent?

A

No

36
Q

Beta thalassemia intermedia

2 beta genes?

A

2 mildly-moderately abnormal genes

37
Q

Beta thalassemia intermedia
degree of anemia?
MCV?
Transfusion?

A

degree = mild-moderate
MCV = low
Transfusion? - sometimes

38
Q

Beta thalassemia major (Cooley’s anemia)

2 beta genes?

A

2 severely abnormal or absent

39
Q

Beta thalassemia major (Cooley’s anemia)
degree of anemia?
MCV?
Transfusion?

A

degree of anemia - severe
MCV = low
Transfusion - always

40
Q

Clinical features of Cooley’s anemia? (

A 
Dense skull / marrow expansion -
Enlarged spleen
Osteopenia / bone changes
Iron overload 
Growth and endocrine failure
41
Q

Treatment for Cooley’s

A 
Red cell transfusions
Iron chelators
Vitamin C
Splenectomy/cholecystectomy
Bone marrow transplant
42
Q

If you see FABarts (abnormal tetratmer made by 4 gamma chains) what should you think of?

A

Alpha thalassemia

excess of gamma chains (not enough alpha to pair up with)

43
Q

When you see HbA2, what should you think of?

A

Beta thalassemia

Not beta to pair up with

44
Q 
alpha thalassemia trait (silent carrier) 
genotype
degree of anemia
MCV
Transfusion?
A 
genotype = - a / a a 
anemia = none
MCV = normal 
Transfusion = no
45
Q 
alpha thalassemia trait (2 genet deletion)
genotype
degree of anemia 
MCV
Transfusion?
A 
genotype = - - / a a or - a / - a
Anemia = none-mild
MCV = low normal / low
Transfusion = no
46
Q 
Hemoglobin H disease
genotype
degree anemia
MCV
Transfusion
A 
genotype = - - / - a 
anemia = moderate - severe
MCV = low 
Transfusion = sometimes

EXCESS OF BETA tetramers

47
Q 
Hydrops fetalis
genotype
degree anemia
MCV
Transfusion?
A

genotype - - / - -

incompatible with life

48
Q

which chromosome codes alpha?

A

16

M2M2 (27 decks)

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