Haemoglobinopathies

Question 1

Where is B-thalassaemia common?

Answer 1

Mediterranean, SE asia, Africa

Question 2

Where is a-thalassaemia common?

Answer 2

West Africa, SE Asia

Question 3

What signs are found on investigation of B-thalassaemia major?

Answer 3

Microcytic, hypochromic anaemia, reticulocytosis, basophilic stippling, target cells
Absence HbA on electrophoresis
Hair on end appearance of skull x-ray

Question 4

How do you treat B-thal major?

Answer 4

Regular blood transfusion, splenectomy, bone marrow transport
Chelation to prevent iron overload

Question 5

What is B-thal minor and what are the symptoms?

Answer 5

Heterozygous, asymptomatic

Mild anaemia, microcytic

Question 6

When and how does B thal major present?

Answer 6

At 6-9 months with severe anaemia, jaundice, failure to thrive, hepatosplenomegaly, bony abnormalities, gallstones, leg ulcers, infections

Question 7

When and how does B thal intermedia present?

Answer 7

1-2y/o, moderate anaemia

Question 8

How many a chains does an a-thal carrier have and what symptoms do they have?

Answer 8

Asymptomatic

3 chains

Question 9

How many a chains does an a-thal trait have and what are their symptoms?

Answer 9

2 chains

Asymptomatic or imld microcytic anaemia

Question 10

How many a chains does HbH disease have and what are their symptoms?

Answer 10

1 chain present

Anaemia, HbH (B4) formed, chronic haemolysis

Question 11

What happens in a-thal major?

Answer 11

No alpha chains, causes hydrops fetalis

In utero death, may be prevented by aggressive in utero transfusions