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Sickle cell anemia
Isabel Ksenak and Abby Schneider
Sickle Cell Anemia definition
➢ A severe hereditary form of anemia in which a mutated form of hemoglobin distorts the red
blood cells into a crescent shape at low oxygen levels.
What is a codon?
➢ In a dna or rna, a sequence of three nucleotides that codes for a certain amino acid or signals the termination of
translation (stop or termination codon).
➢ a specific sequence of three consecutive nucleotides that is part of the genetic code and that specifies a particular
amino acid in a protein or starts or stops protein synthesis --called also triplet.
➢ a codon is a trinucleotide sequence of dna or rna that corresponds to a specific amino acid. The genetic code
describes the relationship between the sequence of DNA bases (A, C, G, and T) in a gene and the corresponding protein
sequence that it encodes. The cell reads the sequence of the gene in groups of three bases. There are 64 codons: 61
specify amino acids while the remaining three are used as stop signals.
Mutation
➢ Sickle Cell Anemia is caused by a point mutation.
➢ A missense mutation that changes just one nucleotide in the gene for hemoglobin
➢ Hemoglobin is made up of protein subunits;
○ alpha-globin
○ beta-globin
➢ A person with sickle cell has hemoglobin with at least one of its beta-globin units replaced
with hemoglobin S
Mutation
➢ Abnormal versions of beta-globin can distort red blood cells into a sickle, or crescent, shape.
➢ The sickle cells die prematurely.
○ Can lead to anemia.
➢ Sometimes the sickle shaped cells get stuck in small blood vessels and can cause serious medical
complications.
symptoms of Sickle Cell Anemia
➢ symptoms of sickle cell anemia include
○ infections
○ pain
○ fatigue
Inheriting Sickle Cell
➢ autosomal recessive pattern
○ both copies of the gene in each cell have mutations
➢ Parents each carry one copy of the mutated gene
➢ The parents who are carriers of the mutated gene usually do not show symptoms or signs of the
condition
who is affected by sickle cell anemia?
➢ Sickle Cell Anemia is more common in ethnic groups, including:
○ African americans (1 in 12 carries a sickle cell gene)
○ Hispanic-Americans from Central and South America
○ People of Middle Eastern, Asian. indian, and Mediterranean Descent
Sickle Cell in America
➢ about 1,000 babies are born with sickle cell each year
➢ 70,000-10,000 people in the U.S. have sickle cell disease
➢ 3 million people carry the sickle cell trait
Malaria
➢ Malaria is a disease caused by a parasite, transmitted by the bite of infected mosquitoes.
Malaria produces recurrent attacks of chills and fever. Malaria kills an estimated 1 million
people each year worldwide.
Malaria
➢ Symptoms include:
○ headache
○ fever
○ fatigue
○ muscular pain
○ nausea
○ vomiting
○ dry cough
How does Malaria Spread?
➢ The most common vector of malaria is the mosquito.
➢ Malaria can also be spread through contaminated blood transfusions and needles/syringes
Who is affected by Malaria?
➢ Malaria mostly affects people living in Africa.
➢ 90% of deaths by Malaria occur in Africa.
➢ It is more common in children and pregnant women than in other adults.
Rate of Infection
➢ 207 million cases of Malaria were reported in 2012
○ 627,000 deaths
➢ At any time, half of the global population is at risk of being infected with Malaria.
How does an individual become immune to malaria?
➢ Some people inherit genetic protection from malaria, although this protection can come at a
significant cost to a person’s health.
➢ Those with sickle cell anemia rarely get sick when bitten by mosquitoes.
➢ Sickle cell anemia involves deformation of red blood cells, making infecting difficult for
plasmodium parasites.
○ plasmodium parasite
■ also known as the malaria parasite
how sickle cell anemia happens
https://www.youtube.com/watch?v=R4-c3hUhhyc
➢
A video on sickle cell
disease =>
reference page!!!!!
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How does an individual become immune to malaria?
What mutation causes sickle cell anemia?
What mutation causes immunity to malaria?
What are the dangers of sickle cell anemia?
What are the benefits of sickle cell anemia?
THE BIG QUESTION!!!!!
How can an individual with sickle cell anemia become immune to malaria and what mutation causes it?
Sources
http://ghr.nlm.nih.gov/condition/sickle-cell-disease
http://www.planetseed.com/relatedarticle/can-you-become-immune-malaria
http://www.malaria.com/overview/malaria-symptoms-causes
http://www.who.int/features/factfiles/malaria/en/
http://www.ncbi.nlm.nih.gov/books/NBK2624/
http://www.cdc.gov/malaria/about/history/
http://www.mmv.org/research-development/curing-malaria
http://www.sicklecelldisease.org/index.cfm?page=scd-global