Sickle Cell Anaemia Flashcards
What is sickle cell anaemia?
A group of disorders affecting haemoglobin.
Atypical haemoglobin molecules distort red blood cells into a sickle shape
What regions/populations experience increased incidences of sickle cell anaemia?
Black African populations
India
Italy
South-East Asia
What are symptoms of sickle cell anaemia?
Painful episodes (caused by sickle cells becoming caught in blood vessels)
Anaemia
- Shortness of breath
- Fatigue
- Delayed growth/development in children
- Jaundice
Pulmonary hypertension
Hypoxia
What are treatments of sickle cell anaemia?
Bone marrow transplants
Blood transfusions
Oxygen supplemental therapy
What is the inheritance of sickle cell anaemia?
Autosomal recessive
What is sickle cell anaemia caused by?
A point mutation in the HBB gene, which provides instructions for the creation of beta-globin
What is the cytogenic location of the mutation for sickle-cell anaemia?
11p15.4
Individuals heterozygous for sickle-cell anaemia have…
…a degree of resistance to malaria.
Being heterozygous for sickle cell anaemia provides a survival advantage in areas where malaria is a selection pressure.
When will individuals heterozygous for sickle-cell anaemia show ill effects?
When oxygen is in short supply
When there is increased atmospheric pressure
When they are dehydrated
