Thalassaemia

Question 1

What is beta Thalassaemia?

Answer 1

Beta-thalassaemia is an inherited microcytic anaemia caused by mutation(s) of the beta-globin gene leading to decreased or absent synthesis of beta-globin, resulting in ineffective erythropoiesis.

Question 2

What are the Risk Factors of b Thalassaemia?

Answer 2

FHx

Question 3

What are the signs and symptoms of b Thalassaemia?

Answer 3

> lethargy > abdominal distension > failure to gain weight > low height and weight > pallor > spinal changes > large head > chipmunk facies > misaligned teeth > hepatosplenomegaly > jaundice

Question 4

What is the epidemiology of b Thalassaemia?

Answer 4

Mutations in the beta-globin gene cluster occur at high frequencies (>1%) in regions including the Mediterranean, Middle East, northern Africa, India, and almost all of Southeast Asia.

Question 5

What investigations should you do for b Thalassaemia?

Answer 5

FBC (Microcytic anaemia, elevate WBC/ Plt) Reticulocyte count (high) Smear (microcytic, tear drops, microspherocytes, target, fragments, nucleated red cells) Hb analysis (High HbF/ HbA2) LFTs (Elevated UncBR and LDH) Skull XR (Widening and deformity) USS Ab (hepatosplenomegaly) Long bones XR (osteopenia)

Question 6

What are the types of thalassaemia?

Answer 6

Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated).

Beta thalassemia occurs when similar gene defects affect production of the beta globin protein.