haemoglobinopathies

Question 1

What is haemoglobinopathies?

Answer 1

genetic condition that effects haemoglobin

Question 2

What happens as a result of haemoglobinopathies?

Answer 2

a change in structure and quality of haemoglobin

Question 3

what type of anaemia can haemoglobinopathies result in?

Answer 3

haemolytic

Question 4

what deficiencies occur as a result of haemoglobinopathies?

Answer 4

• thalassemia
• sickle cell
• G6PD

Question 5

What is thalassemia?

Answer 5

the synthesis of a or b chains in haemoglobin are reduced or non-existent

Question 6

What causes alpha-thalassemia?

Answer 6

alpha globin gene deletion

Question 7

what are the symptoms of alpha-thalassemia?

Answer 7

• anaemia (not always)
• jaundice
  -englarged spleen
  malnourishment

Question 8

How many types of B thalassemia are there?

Answer 8

3 types:

1. beta - thalassemia minor
2. beta - thalassemia major
3. beta thalassemia intermedia

Question 9

What does a b thalassemia blood film show?

Answer 9

codocytes (target cells)

Question 10

What is sickle cell anaemia?

Answer 10

a genetic disease of the red blood cells

Question 11

What happens as a result of sickle cell anaemia?

Answer 11

abnormal haemoglobin HbS

Question 12

what causes sickle cell anaemia?

Answer 12

a point mutation in the haemoglobin beta gene

Question 13

How is the DNA sequence altered in sickle cell patients?

Answer 13

adenine > thymine then glutamic acid to valine

Question 15

By what age does the haemoglobin switch occur?

Answer 15

6 months

Question 16

What type of cells are present with alpha thalassemia?

Answer 16

Heinz bodies

Question 17

What type of cells are present in beta thalassemai?

Answer 17

Target cells