Thalassaemia

Question 1

What is Thalassaemia?

Answer 1

Genetic defect in the protein chains that form RBC causing defects

Autosomal recessive

Question 2

What is the pathophysiology?

Answer 2

Absence of beta or alpha chains on chromosomes
Leads to abnormal RBC that are fragile and breakdown more easily
These broken down RBC are collected in the spleen causing splenomegaly
Bone marrow increases production of RBC to increase levels
Leads to pathological fractures and bone deformities such as prominent cheekbones and forehead

Question 3

What are the signs and symptoms?

Answer 3

Pallor
Microcytic anaemia 
Hepatosplenomegaly
Headache
Fatigue
Gallstones
Jaundice 
FTT
Bone deformities

Question 4

What is alpha thalassaemia and the different types?

Answer 4

Absence of alpha proteins

All 4 absent= hyrops foetalis which is incompatible with life unless caught in utero and in utero transfusions completed

3 genes absent= moderate microcytic anaemia that has splenomegaly

2 genes absent= asymptomatic carrier with low MCV

1 gene absent= normal

Question 5

What is beta thalassaemia minor?

Answer 5

1 abnormal gene and 1 normal gene
Patients have mild microcytic anaemia
Monitoring and no treatment needed

Question 6

What is beta thalassaemia intermedia?

Answer 6

2 abnormal genes either on the same or different chromosomes
Leads to significant microcytic anaemia
Requires occasional blood transfusions

Question 7

What is beta thalassaemia major?

Answer 7

Homozygous for deletion genes
No functioning beta genes
Severe anaemia and FTT
Bone deformities present

Regular transfusions, chelation therapy and splenectomy

Bone marrow transplant can be curative