The Haemoglobinopathies And Thalassaemias at University Of Bradford | Flashcards & Summaries

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Lernmaterialien für The Haemoglobinopathies and Thalassaemias an der University of Bradford

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What are the features of the alpha, beta ,gamma and delta chain?
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Alpha globin gene is found in chromosome 16
Each chromosome has 2 copies of the alpha gene
Alpha chain gene is duplicated on both alpha genes so there are 4 copies of globin gene
Beta, delta, gamma globin genes are carried on chromosome 11
So a sum 2 copies of beta, delta, gamma globin genes
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How is foetal haemoglobin switched?
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Changes to HbA 3-6 months after birth
Gamma chain production is replaced by beta chain
80 now there is HbA and residual HbF
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How do haemoglubinopathies occur?
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Globin gene mutation
Gives rise to structural variants and thalassaemia
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What are the characteristics of structural variants?
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Globin gene mutation produces functionally abnormal haemoglobin
Qualitative effect
Most are rare but clinically significant
Most common → HbS, HbC,HbD,HbE
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What is the prevalence of structural variants?
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S → afro-carribean, tropical Africa, central India & south Mediterranean
C→ west and central Africa
D → Punjab
E → south east Asia
Most common where falciparum malaria is prevalent
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What are the genetic reasons for structural variant?
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Point mutations within globin gene
Single amino acid substitutions on globin gene
Changes the function of haemoglobin
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What is sickel  cell?
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Most common structural variant
Inherited genetic condition
2 alpha and 2 beta chains
Amino acid substitution occurs on 1 or both of beta genes
Glutamic acid in position 6 is replayed by valine
Causes production of functionally abnormal Hbs
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What are the conditions that predispose cells to sickling? 
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Hypoxia → not enough levels of oxygen in blood
Acidosis → excessive levels of acid in the blood
High body temperature
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What are the features of sickle cell trait in heterozygous inheritance?
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Affects HBs and HbA
Only 1 beta globin gene is affected
Severe haemolytic anaemia
Only Hbs produced
Can occur during crises
Leads to jaundice
Can lead to a normal life, severe crises, shortened life span,
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What is sickle cell anaemia through homozygous inheritance?
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Hbs is only produced
Leads to jaundice 
Severe anaemia
Individuals can Lead a normal life, severe crises or have a reduced lifespan
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What are the clinical manifestations of sickle cell disease in different parts of the body?
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Lower leg ulcers
Enlarged spleen because the spleen has to work harder to remove the abnormal red blood cells
Liver damage
Retinopathy
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TESTE DEIN WISSEN
What are the 3 different types of haemoglobin found in normal adult blood and their chain structure?
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TESTE DEIN WISSEN
HbA contains alpha 2 and beta 2 chain( large amounts)
HbA2 contains alpha 2 and delta 2 chain( small amounts)
HbF contains alpha 2 and gamma 2 chain, found in the foetus( residual amounts)
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Q:
What are the features of the alpha, beta ,gamma and delta chain?
A:
Alpha globin gene is found in chromosome 16
Each chromosome has 2 copies of the alpha gene
Alpha chain gene is duplicated on both alpha genes so there are 4 copies of globin gene
Beta, delta, gamma globin genes are carried on chromosome 11
So a sum 2 copies of beta, delta, gamma globin genes
Q:
How is foetal haemoglobin switched?
A:
Changes to HbA 3-6 months after birth
Gamma chain production is replaced by beta chain
80 now there is HbA and residual HbF
Q:
How do haemoglubinopathies occur?
A:
Globin gene mutation
Gives rise to structural variants and thalassaemia
Q:
What are the characteristics of structural variants?
A:
Globin gene mutation produces functionally abnormal haemoglobin
Qualitative effect
Most are rare but clinically significant
Most common → HbS, HbC,HbD,HbE
Q:
What is the prevalence of structural variants?
A:
S → afro-carribean, tropical Africa, central India & south Mediterranean
C→ west and central Africa
D → Punjab
E → south east Asia
Most common where falciparum malaria is prevalent
Mehr Karteikarten anzeigen
Q:
What are the genetic reasons for structural variant?
A:
Point mutations within globin gene
Single amino acid substitutions on globin gene
Changes the function of haemoglobin
Q:
What is sickel  cell?
A:
Most common structural variant
Inherited genetic condition
2 alpha and 2 beta chains
Amino acid substitution occurs on 1 or both of beta genes
Glutamic acid in position 6 is replayed by valine
Causes production of functionally abnormal Hbs
Q:
What are the conditions that predispose cells to sickling? 
A:
Hypoxia → not enough levels of oxygen in blood
Acidosis → excessive levels of acid in the blood
High body temperature
Q:
What are the features of sickle cell trait in heterozygous inheritance?
A:
Affects HBs and HbA
Only 1 beta globin gene is affected
Severe haemolytic anaemia
Only Hbs produced
Can occur during crises
Leads to jaundice
Can lead to a normal life, severe crises, shortened life span,
Q:
What is sickle cell anaemia through homozygous inheritance?
A:
Hbs is only produced
Leads to jaundice 
Severe anaemia
Individuals can Lead a normal life, severe crises or have a reduced lifespan
Q:
What are the clinical manifestations of sickle cell disease in different parts of the body?
A:
Lower leg ulcers
Enlarged spleen because the spleen has to work harder to remove the abnormal red blood cells
Liver damage
Retinopathy
Q:
What are the 3 different types of haemoglobin found in normal adult blood and their chain structure?
A:
HbA contains alpha 2 and beta 2 chain( large amounts)
HbA2 contains alpha 2 and delta 2 chain( small amounts)
HbF contains alpha 2 and gamma 2 chain, found in the foetus( residual amounts)
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