beta Thalassaemia

Question 1

ß Thalassaemia

Answer 1

Common in Africa, Mediterranean, India
Point mutations in ß globin gene of chromosome 11

Question 2

ß Thalassaemia Trait

Answer 2

Mildest form
One abnormal ß globin gene
Usually asymptomatic

Question 3

ß Thalassaemia Trait Haematologically

Answer 3

Target Cells
Raised RBC
Mild anaemia
Raised Hb F and A2 (HPLC)

Question 4

ß Thalassaemia Intermedia

Answer 4

Variety of genetic defects
Effects countered by greater Hb F

Question 5

ß Thalassaemia Major

Answer 5

2 abnormal globin genes
ß0 - globin chains absent
ß+ - globin partially present

Question 6

ß Thalassaemia Symptoms

Answer 6

Severe anaemia
Gross hepatosplenamegaly
Skeletal deformities
Bone marrow expansion

Question 7

ß Thalassaemia Haematologically

Answer 7

Microcytosis
Hypochromasia
Target Cells
Nucleated RBC
Teardrop poikilocytes

Question 8

ß Thalassaemia Bone Marrow

Answer 8

Erythroid hyperplasia (immature RBC)
Dysfunctional RBC
Reduced lifespan of RBC

Question 9

ß Thalassaemia Treatment

Answer 9

Regular blood transfusion
Hb 100-120g/l
Chelation therapy to avoid iron buildup
Vitamin C
Splenectomy
Bone Marrow Transplant
Immunisation