Lecture 6 Blood/Genetics (thalassaemia) Flashcards
1
Q
Haemoglobinopathies
- Is it a Mendelian disorder?
- It has ____ or ____ variants like HbS which are point mutations
- There are three types of thalassemias - what are they and what are the symptoms? Life expectancy for major?
- Actually what is thalassemia?
- Carriers - are they greater in some ethnic groups?
- What sort of autosomal inheritance is it?
A
- There is major thalassemia where no product is made
2
Q
What is a key point with carriers? Their detectable vs clinical thing?
What is used to distinguish carriers from just being classified as iron deficient anaemia?
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3
Q
- What is the treatment for thalassemia? What does that lead to?
- What is the cure to thalassemia?
- What about mild cases like intermedia? What treatment? (2)
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4
Q
General approaches to reducing the burden of genetic disorders e.g. thalassemia - go to each level:
- DNA
- RNA
- Protein
- Functional protein
- Cell
- System/Organ
- Family/society
What are the ones used for thala specifically?
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5
Q
What are the general effects of non-silent mutations? Just list them
- Decreased/loss of function e.g. b-globin loss so beta thala. Is this a recessive or dominant inheritance? What is haploinsufficiency? Is that recessive or dominant?
- Abnormal/gain of function e.g. Hb Hammersmith - what happens?
- Novel properties - example? Dominant or recessive?
- Ectopic gene expression - heridatry persistence of fatal Hb (expressed at the wrong time). Is it dominant or recessive?
A
- You get Hb precipitation - cell lysis (dominant)
6
Q
General: genetic heterogeneity of disorder
- What two types?
- What’re their definitions?
- Examples of each?
- What are two other things that cause different manifestations of the gene?
A
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7
Q
Why look at coding exon first?
A
They have most the pathology in it
8
Q
What are the public health approaches to preventing beta thala? 3 things
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9
Q
What is the gene dosage of alpha, beta and gamma?
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10
Q
Alpha thala:
Read over it
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