Haemoglobulinopathies

Question 1

Alpha like genes are on which chromosome?

Answer 1

16

Question 2

Beta like genes are on which chromosome?

Answer 2

11

Question 3

When are adult levels of Hb reached?

Answer 3

by 6-12 months of age

Question 4

What are the two main haemoglobulinopathies?

Answer 4

Thalassaemias

Structural haemoglobin variants;

Question 5

Which type of haemoglobulinopathy decreases rate of globin chain production?

Answer 5

thalassaemias

Question 6

In which type of haemoglobulinopathy is there normal production of structurally abnormal globin chain, leading to a variant type of haemoglobin?

Answer 6

Structural haemoglobin variants

Question 7

What are the commonest monogenic disorders?

Answer 7

thalassaemias

Question 8

How many genes are affected in silent a thal trait?

Answer 8

1 gene

Question 9

How many genes are affected in α thal trait?

Answer 9

2

Question 10

How many genes are affected in HbH disease?

Answer 10

3

Question 11

How many genes are affected in Hb Barts hydrops fetalis?

Answer 11

4

Question 12

What type of red cells are there in alpha thal trait?

Answer 12

Microcytic, hypochromic red cells with mild anaemia

Question 13

In alpha thal trait, what can sometimes be seen on special stain?

Answer 13

red cell inclusions

Question 14

Why does splenomegaly occur in HbH disease?

Answer 14

due to extramedullary haematopoiesis

Question 15

What is Hb Bart’s Hydrops Fetalis Syndrome?

Answer 15

Severest form of α thalassaemia
Occurs when no α genes inherited from either parent
Most die in utero

Question 16

What inheritance occurs in beta thal trait?

Answer 16

autosomal recessive

Question 17

Describe the 3 types of beta thal?

Answer 17

β thalassaemia trait
Asymptomatic 
Low MCV/MCH
Raised HbA2 is diagnostic
β thalassaemia intermedia
Moderate severity requiring occasional transfusion 
β thalassaemia major;
Severe, lifelong transfusion dependency

Question 18

What inheritance occurs in sickle cell anaemia?

Answer 18

autosomal recessive

Question 19

Sickle cell vaso-occlusion occurs causing what?

Answer 19

Consequences; tissue ischaemia and severe pain

Question 20

Treatment of painful crisis in sickle cell?

Answer 20

Opiate analgesia 
Hydration, Rest
Oxygen 
Antibiotics if evidence of infection 
Red cell exchange transfusion in severe crises eg chest crisis or neurological symptoms

Question 21

What can reduce severity of disease by inducing HbF production?

Answer 21

Hydroxycarbamide