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Oncology-Hematology > Thalassemia > Flashcards

Thalassemia Flashcards

1
Q

What is usually the MCV in Thalassemia ??

A

< 80

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2
Q

What are the genetics of thalassemia ?

A

Autosomal Recessive

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3
Q

Heme consists of ?

A

Iron + Protoporphyrin

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4
Q

What is the main problem in Thalassemia ?

A

the Globin

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5
Q

What is Alpha thalassemia trait ?

A

1 locus deleted, asymptomatic

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6
Q

How many loci are deleted in Alpha thalassemia minor ?

A

2 loci deleted, asymptomatic

maybe can have very mild microcytic anemia

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7
Q

Alpha thalassemia with 3 loci deleted, how does it affect beta chains ?

A

Beta chains are unpaired, forming Beta-4 tetramers

they are present in the RBCs but not in the bone marrow

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8
Q

What is Hemoglobin barts, and how many alpha loci are deleted ?

A

4 alpha loci deleted

Has a very high affinity to oxygen, impossible to deliever oxygen to tissues.

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9
Q

what can be a consequence of Hemoglobin barts ?

A

Hydrops fetalis

death in utero

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10
Q

What is the most accurate test to diagnose alpha thalassemia ?

A

Genetic studies

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11
Q

what is usually the cause for mild anemia in alpha thalassemia ?

A

Splicing defects

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12
Q

what is usually the etyology for severe anemia in alpha thalassemia ?

A

non sense point mutation

stop codon

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13
Q

Clinical fetures of Beta-thalassemia intermedia ?

A

Variable anemia that may require transfusions during periods of stress

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14
Q

do we have production of beta-globin in the Beta thalassemia major ?

A

NO, zero production

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15
Q

hemotetramers effect on bone marrow ? (beta thalassemia major)

A

Ineffective erythropoiesis

RBC die eralier, before being released

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16
Q

Hemotetramers effect on kidney ? (beta thalassemia major)

A

Hemolytic anemia and increased production of EPO

17
Q

what sign can we see on skull and jaw with beta-thalassemia major ?

A
  • Crew cut skull
  • Chipmunk facies

because of medullary erythroid hyperplasia

18
Q

what happends to RBC count in Thalassemia ?

A

Increases

19
Q

what cells we can see occasionaly in Alpha thalassemias ?

A
  • Tear drop cells
  • Target cells
20
Q

What cells can we see in Beta-thalassemia in a consistent manner ?

A

Tear drop and target cells

21
Q

what are the levels of HbA2 in beta-thalassemia minor/intermedia/major ?

A

High

22
Q

what are the levels of HbF in beta-thalassemia minor ?

A

normal-to-low elevations of HbF

May be normal in some patients with thalassemia minor !!!

23
Q

What are the levels of bilirubin in Beta-thal Major ?

A

we get Unconjugated Hyperbilirubinemia

Because we have hemolysis (from the protoporphyrin)

24
Q

What are the levels of reticulocytes in Beta-thal Major ?

A

Increased

25
Q

do you give Iron in the ttt of Thalassemia ?

A

No

It will lead to iron overload

26
Q

What is the ttt for thalassemia ?

A

Blood transfusion

27
Q

How do we manage iron overload ?

A

Chelation

(Defroxamine)

28
Q

Beta thalassemia: most commonly seen in people of

A

Mediterranean descent

29
Q

Alpha thalassemia: most commonly seen in people of

A

Asian and African descent

30
Q

Thalassemia provides partial resistance against

A

Malaria

31
Q

Hb Bart consists of

A

Four γ-chains (γ-tetramers)

32
Q

In a normal cell, the β-globin chains are coded by a total of

A

two alleles

33
Q

What causes sickle cell beta-thalassemia ?

A

a combination of one defective β-globin allele and one defective HbS allele

34
Q

What is the cause of the anemia in Thalassemia ?

A

Combination of inefficient erythropoiesis and increased hemolysis.

35
Q

What leads to bone marrow hyperplasia and skeletal deformities in thalassemia?

A

The increased EPO

Because of the anemia

36
Q

what type of anemia do we have in the major forms of beta thalassemia?

A

Hemolytic anemia

That often requires transfusions

37
Q

When do we see the signs of HbH disease?

A

Usually neonatal period

characterized by mild to moderate anemia, hepatosplenomegaly, and jaundice.

Oncology-Hematology (11 decks)

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