B Thalassaemia Major Flashcards
1
Q
Genotype
A
B0 / B+ B+
2
Q
blood film
A
Tear drop cells (dacrocytes)
Target Cells
Anisopoikilocytosis
H Bodies
3
Q
Other Tests Done
A
Absence ofHbA
Increased AST
4
Q
Clinical Symptoms
A
Skeletal changes (erythroid hyperplasia anaemia)
Cholelithiasis (gall stones)
Iron overload (increased abs + transfusions)
Osteoporosis
Recurrent leg ulcers + Hepatosplenomegaly
5
Q
What bacterial infections are they prone to
A
Klebsiella
6
Q
Treatment
A
BT
Splenectomy
HSCT
Long term folic acid + gene therapy
7
Q
What can iron loading lead to
A
Cirrhosis + cardiac death = ALT + AST high
8
Q
What causes Erythroid Hyperplasia
A
Expansion of marrow due to increased EPO release = skeletal changes
9
Q
How do you tell the difference between Major and Minor
A
HbA absent in Major
