Autosomal Recessive Disorder

Name (Registration Number), Spectrum Institute of Science and Technology, Colombo, Sri Lanka
Cystic Fibrosis Sickle Cell Anemia
• Cystic fibrosis a genetic disorder that causes a • Sickle Cell anemia is a genetic disorder
persons lung and stomach to produce large that Is
amounts of thick and sticky mucus. characterised by the presence of
• The mucus causes respiratory and disgestive Haemoglobin S.
problems in the person. • Sickle cell anemia is caused by a genetic
• Cystic fibrosis is caused by defective gene that mutation passed down by both the
is known as CFTR For cystic fibrosis to be passed parents
down both the parents must carry a mutated • It causes various harmful effects due to
CFTR gene. haemoglobin s blocking blood vessels.

. Symptom and Diagnosis Symptom and Diagnosis

• Symptoms of people that have cystic fibrosis are •
Persistent coughing, lung infections, diarrhoea and
yellowing of skin.
• Cystic fibrosis can be diagnosed through new •
Born testing in which if a baby has elevated IRT
It may be present.
• Cystic fibrosis can be treated via multivitamins •
Mucus thinning drugs or enzyme supplements.
1.
Symptoms of sickle Cell anemia are
chronic fatigue anemia and a increased
risk of infections occurring.
Sickle cell anemia can be diagnosed by by
a simple blood test to check what
haemoglobin type is predominant.
Sickle cell anemia can be treated by
antibiotics blood transfusions or stem cell
transport.
References
Duvigneaud N, Wijndaele K, Matton L, Phillippaerts R, Lefevre J, Thomis M, Delecluse C, Dequet W (2007)
Dietary factors associated with obesity indicators and level of sports participation in Flemish adults
(Nutrition journal) doi:10.1186/1475-2891-6-26

Figure 1.1 – Available from: http://www.healthline.com/obesity-morbidly.png [Accessed 13 th August 2018]