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Blood and Lymph > Thalassemia > Flashcards

Thalassemia Flashcards

1
Q

How many alpha-globin genes are there?

What chromosome are they on?

A

4 genes (two on each)

Chromosome 16

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2
Q

How many beta-globin genes are there?

What chromosome are they on?

A

2 genes (one on each)

Chromosome 11

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3
Q

What is the major hemoglobin in a child of 6 months?

A

Hemoglobin A1

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4
Q

Is alpha thalassemia most often cause by dysfuctional gene or absence of gene?

A

Absence of gene

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5
Q

Having a two gene deletion in an alpha hemoglobin gene can be cis or trans. Which one is most commonly found in people of Asian descent?

A

Cis is most often found in people of Asian descent

Trans is most often found in people of African American descent

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6
Q

Why is hydrops fetalis more often found in people of Asian descent?

A

Because people of Asian descent are more often carriers of cis mutations. Two carriers of cis mutations have a 25% chance of having a fetus with hydrops fetalis –/–

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7
Q

Fill in the following characteristics for alpha-thalassemia trait:

Genes:
Degree of Anemia:
MCV:
Transfusion Dependent?:

A

-a/–

No anemia

No MCV change

No

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8
Q

Fill in the following characteristics for alpha-thalassemia trait (2-gene deletion):

Genes:
Degree of Anemia:
MCV:
Transfusion Dependent?:

A

–/aa OR -a/-a

None-MIld

Low-Normal or Low

No

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9
Q

Fill in the following characteristics for Hemoglobin H Disease:

Genes:
Degree of Anemia:
MCV:
Transfusion Dependent?:

A

–/a-

Moderate-Severe

Low

Sometimes

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10
Q

Fill in the following characteristics for Hydrops fetalis:

Genes:
Degree of Anemia:
MCV:
Transfusion Dependent?:

A

–/–

Incompatible with life

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11
Q

Is hydrops fetalis curable?

A

Yes. With an in utero bone marrow transplant

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12
Q

Is beta thalassemia most often cause by dysfuctional gene or absence of gene?

A

Dysfunctional gene due to point mutations

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13
Q

What is Hemoglobin E?

A

A structurally abnormal hemoglobin, due to a point mutation in the Beta-globin gene at position 26 from glu–>lys

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14
Q

Is Hemoglobin E stable?

A

No. It is unstable

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15
Q

In which ethnic group is Hemoglobin in most commonly found?

A

Persons of southeast Asian descent

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16
Q

Fill in the following characteristics for Beta- Thalassemia minor:

Genes:
Degree of Anemia:
MCV:
Transfusion Dependent?:

A

1 Normal Gene/ 1 Abnormal Gene

None-Mild

Low-Normal or Low

No

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17
Q

Fill in the following characteristics for Beta-Thalassemia Intermedia :

Genes:
Degree of Anemia:
MCV:
Transfusion Dependent?:

A

2 mildly-moderately abnormal genes

Mild-Moderate

Low

Sometimes

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18
Q

Fill in the following characteristics for Beta-Thalassemia Major (Cooley’s Anemia):

Genes:
Degree of Anemia:
MCV:
Transfusion Dependent?:

A

2 Severely Abnormal or absent genes

Severe

Low

Always

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19
Q

Fill in the following characteristics for HbEB+ Thalassemia:

Genes:
Degree of Anemia:
MCV:
Transfusion Dependent?:

A

1 mildly-moderately abnormal Beta gene & 1 Hb E gene

Mild-Moderate

Low

Sometimes

20
Q

Fill in the following characteristics for HbEB0 Thalassemia:

Genes:
Degree of Anemia:
MCV:
Transfusion Dependent?:

A

1 severely abnormal or absent Beta gene & 1 Hb E gene

Severe

Low

Often

21
Q

Fill in the following characteristics for 2 Hb E genes:

Genes:
Degree of Anemia:
MCV:
Transfusion Dependent?:

A

2 Hb E genes

Mild

Low

No

22
Q

What disorders show characteristic low MCV, low MCHC, and target cells?

A

Alpha Thalassemia
Beta Thalassemia
Hemoglobin E
Iron deficiency

23
Q

What is Hemoglobin Barts?

A

It is a tetramer of gamma

Occurs when –/-a

24
Q

What is Hemoglobin H?

A

It is a tetramer of beta hemoglobin

Occure when –/-a

25
Q

What hemoglobins increase in Beta Thalassemias?

A

Hemoglobin F

Hemoglobin A2

26
Q

How would an eletroporesis of an individual with alpha-thalassemia appear?

A

Normal, because all hemoglovins would be underproduced in proportion to each other.

27
Q

What two hemoglobins travel together in an electrophoresis?

A

Hemoglobin A2

Hemoglobin E

28
Q

How would an electroporesis of an individual with beta-hemoglobin major appear?

A

No Hemoglobin A1 band

Some Hemoglobin A2 band

Some Hemoglobin F band

29
Q

How would an electroporesis of an individual with HbEB0 appear?

A

No Hemoglobin A1

More Hemoglobin A2 than beta-thalassemia major (because HgE travel in the same band as Hemoglobin A1)

More Hemoglobin F band than beta-thalassemia major

30
Q

Why is it important to not solely rely on electroporesis to diagnose iron deficiency anemia?

A

Because if a patient has beta thalassemia and is also iron deficient then there hemoglobin A2 should appear normal and beta thalassemia could be missed.

31
Q

What would you find on the peripheral smear of a patient with thalassemia/

A
  1. Target cells
  2. Microcytosis
  3. Polychromasia
  4. Mild anisocytosis
32
Q

What would the chemistry profile of a patient with thalassemia look like?

A

Increased:

  1. total/indirect bilirubin
  2. lactate dehydrogenase (LDH)
  3. Aspartate aminotransferase (AST)

*all of which are related to lysed RBC

33
Q

Untreated thalassemia patients can often result in skeletal deformities, including frontal bossing. What is this caused by?

A

Expanded bone marrow

34
Q

Untreated thalassemia patients can get enlarged livers, why?

A

Extramedullary hematopoiesis

35
Q

Why would a patient with thalassemia be at risk for heart, liver and pituitary dysfunction or failure?

A

Thalassemia —>Increased iron absorption
Transfusion —> Iron overload

Excess iron will accumulate in the heart, liver and pituitary

36
Q

Patients with untreated thalassemia can often present with short statue and delayed-onset of puberty. Why?

A

Ineffective erythropoiesis and endocrinopathies will delay growth and development

37
Q

What type of thalassemia is characteristic of endocrinopathies?

A

Cooley’s anemia aka Beta-thalassemia major

38
Q

Chronic hemolytic anemia patients are also at risk for what lung related issue?

A

Pulmonary hypertension

39
Q

What prevents significant cardiac dysfunction development in thalassmenia patients receiving frequent transfusions?

A

Chelation therapy

40
Q

What is the most common chelation therapy used for transfusion patients?

A

Deferoxamine- infused subcutaneously over 8-12 hours usually in the abdominal area 5-7 times a week.

41
Q

What chelation therapy would you use if you lived in Europe?

A

Deferiprone- oral used with deferoxamine

42
Q

What is an oral chelator that is just as effective as deferoxamine and is also available in the US?

A

Deferasirox (ICL670)

43
Q

What could you prescribe a beta-thalassemia patient to increase increase the production of fetal hemoglobin?

A
  1. Hydroxyurea
  2. Butyrate
  3. Decitabine
44
Q

Can you cure thalassemia?

A

Yeah with a bone marrow transplant

45
Q

What can be given to a newborn who screened positive for thalassemia?

A

Prophylactic penicillin

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