Thalassemia

Question 1

What is usually the MCV in Thalassemia ??

Answer 1

< 80

Question 2

What are the genetics of thalassemia ?

Answer 2

Autosomal Recessive

Question 3

Heme consists of ?

Answer 3

Iron + Protoporphyrin

Question 4

What is the main problem in Thalassemia ?

Answer 4

the Globin

Question 5

What is Alpha thalassemia trait ?

Answer 5

1 locus deleted, asymptomatic

Question 6

How many loci are deleted in Alpha thalassemia minor ?

Answer 6

2 loci deleted, asymptomatic

maybe can have very mild microcytic anemia

Question 7

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

Answer 7

Beta chains are unpaired, forming Beta-4 tetramers

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

Question 8

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

Answer 8

4 alpha loci deleted

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

Question 9

what can be a consequence of Hemoglobin barts ?

Answer 9

Hydrops fetalis

death in utero

Question 10

What is the most accurate test to diagnose alpha thalassemia ?

Answer 10

Genetic studies

Question 11

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

Answer 11

Splicing defects

Question 12

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

Answer 12

non sense point mutation

stop codon

Question 13

Clinical fetures of Beta-thalassemia intermedia ?

Answer 13

Variable anemia that may require transfusions during periods of stress

Question 14

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

Answer 14

NO, zero production

Question 15

hemotetramers effect on bone marrow ? (beta thalassemia major)

Answer 15

Ineffective erythropoiesis

RBC die eralier, before being released

Question 16

Hemotetramers effect on kidney ? (beta thalassemia major)

Answer 16

Hemolytic anemia and increased production of EPO

Question 17

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

Answer 17

• Crew cut skull
• Chipmunk facies

because of medullary erythroid hyperplasia

Question 18

what happends to RBC count in Thalassemia ?

Answer 18

Increases

Question 19

what cells we can see occasionaly in Alpha thalassemias ?

Answer 19

• Tear drop cells
• Target cells

Question 20

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

Answer 20

Tear drop and target cells

Question 21

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

Answer 21

High

Question 22

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

Answer 22

normal-to-low elevations of HbF

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

Question 23

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

Answer 23

we get Unconjugated Hyperbilirubinemia

Because we have hemolysis (from the protoporphyrin)

Question 24

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

Answer 24

Increased

Question 25

do you give Iron in the ttt of Thalassemia ?

Answer 25

No | It will lead to iron overload

Question 26

What is the ttt for thalassemia ?

Answer 26

Blood transfusion

Question 27

How do we manage iron overload ?

Answer 27

**Chelation** | (Defroxamine)

Question 28

**Beta thalassemia**: most commonly seen in people of

Answer 28

Mediterranean descent

Question 29

**Alpha thalassemia**: most commonly seen in people of

Answer 29

Asian and African descent

Question 30

Thalassemia provides partial resistance against

Answer 30

Malaria

Question 31

**Hb Bart** consists of

Answer 31

**Four γ-chains** (γ-tetramers)

Question 32

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

Answer 32

two alleles

Question 33

What causes **sickle cell beta-thalassemia** ?

Answer 33

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

Question 34

What is the cause of the anemia in Thalassemia ?

Answer 34

Combination of **inefficient erythropoiesis** and **increased hemolysis**.

Question 35

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

Answer 35

The increased EPO ## Footnote Because of the anemia

Question 36

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

Answer 36

Hemolytic anemia ## Footnote That often requires transfusions

Question 37

When do we see the signs of HbH disease?

Answer 37

Usually **neonatal** period ## Footnote characterized by mild to moderate anemia, hepatosplenomegaly, and jaundice.