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What patterns can you see?

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Frequency of sickle cell allele (a disease that makes RBCs sickle


shaped not disc)

Malaria endemicity

Sickle Cell Anaemia


Sickle cell anaemia is a genetic blood
disorder where red blood cells develop
abnormally.
Red blood cells carry oxygen from the
lungs to the rest of the body. The cells
are usually round and flexible, allowing
them to move easily around the body.
However, in people with sickle cell
anaemia, the shape and texture of the
blood cells can change. They become hard
and sticky and are shaped like sickles
(crescents). The cells die prematurely,
leading to a shortage of red blood cells.
This causes symptoms of anaemia, such as
tiredness and breathlessness.

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Topic 18 Variation and Selection


Mutations and Sickle Cell
LO To define mutations and explain the inheritance of sickle
cell anemia
THINK
1. Would it be an advantage for everyone to be a sickle
cell carrier?
2. Can you classify sickle cell as a co-dominant allele?

Symptoms of Sickle Cell Anaemia

A mutation is a genetic change


A gene mutation is a change in the base
sequence of DNA

Mutations

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Mutation occurs naturally at


random. However the rate at
which occur is increased with
exposure to radiation.
The greater the dose of
radiation, the greater the
chance of mutation. Ionising
radiation and some chemicals
increase the chances of
mutations occurring.

Mutations
If mutation occurs in
body cells they may
affect the individual.

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If the mutation occurs


in the gametes then
these mutations will be
inherited by the
offspring and provide
new forms of variation.

Let us see how sickle cell is inherited >

Sickle Cell Alleles are Codominant


Normal allele coding for normal haemoglobin Hb A
Mutant allele coding for faulty haemoglobin Hb S

A person with genotype HbA HbA will have normal


haemoglobin
A person with genotype HbA HbS will have a mix of
normal and sickle haemoglobin
A person with genotype HbS HbS will have all
sickle haemoglobin

Inheritance

HbA
HbA
HbA

HbS

Hb

Hb

HbA
HbA
HbS

HbS

HbS
HbS

Symptoms of Malaria

Malaria Transmission Cycle

Distribution of Sickle Cell Allele and


Malaria in Africa

Sickle Cell Allele

Malaria

Advantages of Sickle Cell Anaemia


Allele
Sickle cell anaemia is most common in parts of the world
where malaria is common.
In the past most children born homozygous for the sickle
cell allele would often die young from SCA.
Children born homozygous for the normal allele would
often die young from malaria.

Children born heterozygous for sickle


cell allele survived until they were old
enough to reproduce.

Natural Selection for Sickle Cell


Anaemia
In each generation, the people most likely
to survive to reproduce are
heterozygous.

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