Beta Thalassaemia Flashcards
How is beta thalassemia Inherited
Autosomal recessive
What is the mai stay of treatment in beta thal major
Blood treatment and chelation therapy
- historically: splenectomy
May still encounter patients with splenectomy
What is the primary cause of death in patients with beta thal major
Cardiac failure
50%
What are some other implications of beta thal major
- hepatic
- endocrine (thyroid and pancreas)
- reproductive: delayed puberty, infertility/subfertility
- low bone mass
How is diabetes monitored in beta thal
Serum fructosamine concentration
<300nmol/l ideal corresponds to hba1c of 6.1
Hba1c not reliable as diluted by multiple transfusions
What cardiac evaluation is required for beta thal
- ecg
- echo
- t2 cardiac mri (<10ms has increased risk of cardiac failure )
What is the proposed mechanism behind beta thal associated osteoporosis
Multifactorial
- chelation of calcium
- hypogonadism
- vit D deficiency
- thalassemia bone disease
What percentage of beta thal patients have alloommunity
16.5%
Due to multiple transfusions
- ABO and full blood genotype should be done and antibody titres measured
What drugs should be discontinued prior to pregnancy in beta thal
- chelation agents: deferiprone
- bisphosphonates
Stop atleats 3mnths prior to conception
