THALASSEMIA

Question 1

are diverse group of inherited disorders

Answer 1

Thalassemia

Question 2

• Genetic mutations affecting the globin chain component of the Hb tetramer

Answer 2

Thalassemia

Question 3

often referred to as Cooley’s anemia

Answer 3

Beta thalassemia

Question 4

published a paper

Answer 4

Whipple and Bradford

Question 5

Outline the detailed autopsy studies of children who died of this disorder

Answer 5

Whipple and Bradford

Question 6

Results from a reduced or absent synthesis of one or more of the globin chains of hemoglobin

Answer 6

THALASSEMIA

Question 7

• Mutations affecting alpha or Beta-globin gene are ________

Answer 7

• THALASSEMIA

Question 8

• DECREASE OR ABSENT SYNTHESIS

Answer 8

THALASSEMIA

Question 9

Due to mutations in the promoter region or initiation codon of a globin gene, or to mutations in polyadenylation sites that reduce mRNA stability

Answer 9

1. Reduced or Absent Transcription of (mRNA)

Question 10

• Mutations that add or remove splice sited, resulting in no globin chian or altered globin chain production

Answer 10

2. mRNA Processing errors

Question 11

• Mutations that change the codon reading frame (frameshift mutations), substitute an incorrect amino acid(missense mutation), add a stop codon(nonsense mutations), remove a stop codon

Answer 11

3. Translation errors

Question 12

• No production of the corresponding globin chains

Answer 12

4. Deletion of one or more globin genes

Question 13

The clinical manifestations of
thalassemia stem from

Answer 13

1. Reduced or Absent production
   of a particular globin chain
2. Unequal production of the
   alpha and Beta globin chains

Question 14

• Unpaired, excess alpha chains precipitate in developing erythroid precursors forming inclusion bodies

Answer 14

• BETA THALASSEMIA

Question 15

Asymptomatic during fetal life and through approximately _____________ of age

Answer 15

Beta Thalassemia - 6 months

Question 16

• In children excess iron causes: beta thalassemia

Answer 16

Growth retardation
* Absence of sexual maturity

GA

Question 17

• In adults excess iron causes:

Answer 17

• Cardiomyopathy
• Fibrosis
• Cirrhosis of the liver
• Dysfunction of exocrine glands

CFCD

Question 18

• Decreased production of alpha chain can manifest in utero

Answer 18

ALPHA THALASSEMIA

Question 19

Decrease production of alpha chains results on an excess of gamma chains

Answer 19

Fetus and newborn

Question 20

excess B chain, stable and form tetramers

Answer 20

HB H

Question 21

do not precipitate in developing erythroid
* No ineffective erythropoiesis
* MATURE RBC = Hb H eventually precipitate and form inclusion bodies
* Manifest a moderate hemolytic anemia

Answer 21

Hb H and Hb bart

Question 22

4 CATEGORIES BASED ON CLINICAL
MANIFESTATION

Answer 22

1. Beta-Thalassemia silent carrier (heterozygous
   state)
2. Beta-Thalassemia minor (heterozygous state)
3. Beta-Thalassemia major (homozygous or
   compound heterozygous state)
4. Beta-Thalassemia intermedia

Question 23

2 BROAD GROUPS BASED ON TRANSFUSION
REQUIREMENT

Answer 23

1. Transfusion-dependent thalassemia(TDT)
2. Non- Transfusion-dependent
   thalassemia(NTDT)

Question 24

Other Thalassemias
Caused by Defects in BetaGlobin Gene Cluster

Answer 24

1.Thalassemias with Increased Levels of Fetal
Hemoglobin
2. Hemoglobin Lepore Thalassemia