Genetic Diseases Flashcards
What population does sickle cell anaemia effect?
- black Africans
What population does Tay-Sachs diseaseeffect?
- Eastern European Jews (Ashkenazi Jews)
What population does thalassaemia effect?
- Mediterranean (Italy, Greece)
What is the cause of sickle cell anaemia ?
- red blood cells crescent shaped (mutated rbc gene)
- not enough healthy rbcs
What is the cause of Tay-Sachs disease?
- missing enzyme
- accumulation of fatty substances in nervous system
What is the cause of thalassaemia?
- less haemoglobin
- fewer rbcs
What are the symptoms of sickle cell anaemia?
- anaemia - body can’t get enough oxygen - fatigue
- pain - blocked veins
- reduced O2 carrying capacity
What are the symptoms of Tay-Sachs disease?
- deafness
- progressive blindness
- decreases muscular strength
What are the symptoms of thalassaemia?
- anaemia
- fatigue
What is the inheritance of sickle cell anaemia, Tay-Sachs disease and thalassaemia?
- autosomal recessive gene
What effect does sickle cell anaemia have on the gene pool?
- heterozygous, resistance to malaria, increases frequency in gene pool as it gives a survival advantage
What effect does Tay-Sachs disease have on the gene pool?
- rare - little effect - generally disappears
- can advantage in providing resistance to tuberculosis
What effect does thalassaemia have on the gene pool?
- resistance to malaria, gene persists in pool
