32. Thalassaemia Flashcards
1
Q
Outline the pathophysiology of thalassaemia
A
Imbalance between number of α and β globin chains
β –> decreased/absent, chromosome 11 each has 1 gene, 1 lost = minor, 2 lost = major.
α –> decreased/absent, chromosome 16 each has 2 genes, 1 lost = silent carrier, 2 lost = mild, 3 lost = HbH disease clinically severe, 4 lost = hydrops fetalis usually fatal (fluid in 2 foetal compartments)
2
Q
How does thalassemia present in children?
A
Minor =
- asymptomatic
- mild anaemia
Major =
- pale skin – particularly in the palms of the hands, fingernails, and lining of the eyelids
- fatigue (lack of energy)
- shortness of breath
- pounding of the heart and a rapid heart rate
3
Q
What is a DDx for suspected thalassemia in children?
A
Acute Anaemia Chronic Anaemia Gaucher Disease Haemolytic Anaemia Hydrops Fetalis Imaging Iron Deficiency Anaemia Osteopetrosis Thalassemia Intermedia
