Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Block 3 > Thalassaemia > Flashcards

Thalassaemia Flashcards

1
Q

Genetic disorder: thalassaemia

A

Failure to synthesize certain globin chains

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Sickle cell anaemia

A

Structural variants of Haemoglobin (Hb)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

List third disorder of haemoglobin synthesis

A

Failure to switch from fetal Hb to adult Hb

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Chromosome 16

A

Two genes for alpha-globin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Chromosome 11

A

One gene each for beta-globin, gamma-globin and delta-globin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Variation of fetal Hb

A

HbF = alpha2 gamma 2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Variation of adult Hb

A
  • HbA = alpha2 beta2

- HbA2 = alpha2 delta2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Beta-thalassaemia

A

Reduced production of beta-globin chains

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

beta-thalassaemia is usually caused by?

A
  • Usually caused by single base mutation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Beta-thalassaemia inheritance

A

Autosomal recessive inheritance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Beta-thalassaemia mutation can result in?

A

Reduced beta-globin or absent beta-globin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Beta-thalassaemia major

A

Two knock-out genes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Heterozygote carrier for beta-thalassaemia trait

A

one knock-out gene and one normal gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

List two effects of beta-thalassaemia

A
  • HbF increases - no beta globin to replace gamma globin

- Excess alpha globin precipitate - no beta globin to pair with

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

HbF increases in beta-thalassaemia

A

Leads to high oxygen affinity of RBC -> tissue hypoxia since oxygen can’t dissociate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Excess alpha globin precipitate

A

leads to destruction of RBC precursors and haemolysis -> anaemia

17
Q

Beta thalassaemia major clinical signs

A
  • Iron accumulation
  • Hepatomegaly and splenomegaly
  • Bone deformation
18
Q

Beta thalassaemia major haematological phenotype

A
  • Hypochromic microcytic anaemia
  • Anisopoikilocytosis (abnormal shape and size)
  • Target and tear-drop cells
  • Absent HbA
  • Present HbA2
  • Rise in HbF
19
Q

List the beta thalassaemia traits

A
  • Asymptomatic carrier
  • Normal Hb
  • Hypochromic microcytosis
  • Raised HbA2
20
Q

Alpha-thalassaemia definition

A

Reduced production of alpha-globin chains

21
Q

Alpha-thalassaemia is usually genetically caused by

A

Full gene deletions

22
Q

‘Normal’ variation of alpha-thalassaemia

A

4 normal genes

23
Q

alpha+ trait of alpha-thalassaemia

A

3 normal genes

24
Q

Homozygous alpha+ trait of alpha-thalassaemia

A

1 normal gene, 1 deleted gene on each chromosome (2 gene deletions)

25
Q

alpha0 trait of alpha-thalassaemia

A

2 normal genes on one chromosome, 2 deleted genes on other

26
Q

HbH disease variation of alpha-thalassaemia

A

1 normal gene

27
Q

Hydrops fetalis variation of alpha-thalassaemia

A

0 normal genes

28
Q

Variation in alpha trait of alpha thalassaemia affects ________ but presents similarly

A

inheritance pattern

29
Q

Alpha-thalassaemia results in excess?

A

Excess beta and gamma chains forming precipitants:

  • HbH bodies = beta4
  • Hb Barts = gamma4
30
Q

HbH bodies precipitants form?

A

Beta4

31
Q

Hb Barts precipitant forms?

A

Gamma4

32
Q

Pathophysiology of alpha-thalassaemia

A
  • Defect haemoglobin synthesis
  • Peripheral haemolysis
  • High oxygen affinity of HbH and Hb barts
33
Q

Peripheral haemolysis causes?

A

HbH is unstable and shortens lifespan

34
Q

High oxygen affinity of HbH and Hb barts does?

A

Does NOT give up oxygen to tissue

35
Q

Alpha-thalassaemia is clinically

A

Clinically asymptomatic

36
Q

Two gene deletions in alpha-thalassaemia

A
  • Mild hypochromic microcytosis anaemia
  • No raise in HbA2
  • Possible Hb Barts and HbH bodies
37
Q

One gene deletion in alpha-thalassaemia

A
  • Normal Hb
  • Very mild reduction in MCV
  • Rarely Hb Barts
38
Q

Hb H Disease (3 gene deletions) leads to?

A
  • Anaemia
  • HbH formation
  • Splenomegaly
  • Bone changes
39
Q

Hb Barts Hydrops Fetalis can lead to?

A
  • Death in utero
  • Hb Barts formation
  • Massive hepatosplenomegaly

Block 3 (9 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions