Thalassaemia

Question 1

thalassaemia

Answer 1

name for a group of inherited conditions that affects a substance in the blood called haemoglobin

Question 2

people with thalassaemia produce either…

Answer 2

no or too little haemoglobin

Question 3

thalassaemia can be divided into…

Answer 3

alpha & beta

Question 4

most severe type of thalassaemia

Answer 4

beta thalassaemia major

Question 5

alpha thalassaemia

normal

Answer 5

• all alpha globin chains present

Question 6

alpha thalassaemia

carrier

Answer 6

• one missing gene
• silent carrier
• no abnormalities

Question 7

alpha thalassaemia

Alpha thalassaemia minor

Answer 7

• two missing genes
• asymptomatic
• mild microcytic anaemia

Question 8

alpha thalassaemia

HbH disease

Answer 8

• three missing genes
• symptomatic
• mild to severe anaemia
• splenomegaly

Question 9

alpha thalassaemia

alpha thalassaemia major

Answer 9

• all 4 missing genes
• incompatible with life

Question 10

alpha thalassaemia results from deletions involving what genes?

Answer 10

HBA1 + HBA2

Question 11

alpha thalassaemia presentation

malformed red blood cells

Answer 11

reduce oxygen carrying
* pallor
* shortness of breath
* fatigue

body removes damaged red cells
* enlarged spleen
* low number of cells
* jaundice

Question 12

alpha thalassaemia treatment for anaemia

Answer 12

• folic acid + good nutrition
• transfusions of packed red cells

Question 13

alpha thalassaemia treatment long term

Answer 13

• bone marrow transplant
• splenectomy

Question 14

alpha thalassaemia treatment
avoid passing on condition

Answer 14

genetic counselling

Question 15

what is beta thalassaemia

Answer 15

range of inherited conditons affecting B chains in haemoglobin

Question 16

what is beta thalassaemia caused by?

Answer 16

caused by point mutations to a single gene on chromosome 11

Question 17

beta thalassaemia inherited in an…

Answer 17

autosomal recessive fashion

Question 18

beta thalassaemia

normal

Answer 18

healthy (B/B)

Question 19

beta thalassaemia minor

Answer 19

• B/B+
• B/B0
• mild anaemia

Question 20

beta thalassaemia intermedia

Answer 20

• B+/B0
• may need transfusions

Question 21

beta thalassaemia major

Answer 21

• B+/B+
• B0/B0
• both alleles have mutation
• severe anaemia
• bone deformities

Question 22

why does beta thalassaemia cause bone deformities?

Answer 22

• makes bone marrow expand
• bones widen
• results in abnormal bone structure ( esp face + skull )
• also makes bones thin and brittle
• increasing chance of broken bones