THE SICKLE CELL ALLELE AND

MALARIA
IGCSE
 Syllabus objectives
• Describe the symptoms of sickle-cell anaemia
• • Explain how a change in the base sequence of the gene
for haemoglobin results in abnormal haemoglobin and
sickle-shaped red blood cells
• • Use genetic diagrams to show how sickle-cell anaemia is
inherited
• • State that people who are heterozygous (HbS HbA) for
the sickle-cell allele have a resistance to malaria
• • Explain the distribution of the sickle-cell allele in human
populations with reference to the distribution of malaria
 Sickle cell allele
• Haemoglobin is a protein that carries oxygen.
• Because it is a protein , the instructions for
making it are carried in the DNA of a gene.
• The gene has 2 alleles :
1) The normal allele which codes for production of
normal haemoglobin . It is represented as HbA
2) The abnormal allele which is a result of
mutation is represented as HbS
 Sickle-cell anaemia
• If a person inherits both recessive alleles (HbSHbS) for
sickle-cell haemoglobin, then he or she will exhibit
signs of the disease, i.e. distortion of the red cells
leading to severe bouts of anaemia.
• A heterozygote HbAHbs, however, will have a
condition called ‘sickle-cell trait’. Although there may
be mild symptoms of anaemia the condition is not
serious or life-threatening.
• In this case, the normal haemoglobin allele HbA) is not
completely dominant over the recessive (HbS allele.
 SICKLE CELL ALLELE AND MALARIA
• In many African countries, sufferers have a reduced chance of reaching reproductive
age and having a family.
• There is thus a selection pressure, which tends to remove the homozygous recessives
from the population.
• In such a case, you might expect the harmful HbS allele to be selected out of the
population altogether.
• However, the heterozygotes (HbAHbS) have virtually no symptoms of anaemia but do
have the advantage that they are more resistant to malaria than the homozygotes
HbAHbA
• It appears that the malaria parasite is unable to invade and reproduce in the sickle
cells.
• The selection pressure of malaria, therefore, favours the heterozygotes over the
homozygotes and the potentially harmful HbS allele is kept in the
• population .
• When Africans migrate to countries where malaria does not occur, the selective
advantage of the HbSallele is lost and the frequency of this allele In the population
diminishes
 POSSIBLE GENOTYPES AND ADVANTAGES
• The possible genotypes are:
HbAHbA normal haemoglobin, no anaemia
• HbSHbS abnormal haemoglobin, sickle cells anaemia (life-threatening)
•
Malaria is a life-threatening disease caused by a parasite that invades red
blood cells (Plasmodium). The parasite is carried by some species of
mosquito. 
A person who is heterozygous HbAHbS for sickle cell anaemia
has protection from malaria, because the malaria parasite is unable to invade
and reproduce in the sickle cells. 
• A person who is homozygous for sickle cell anaemia HbSHbS  also
has protection, but is at high risk of dying form sickle cell anaemia. 
• A person with normal haemoglobin HbAHbA in a malarial country is at high
risk of contracting malaria.
 Sickle-cell anaemia (×800). At low oxygen
concentration the red cells become distorted
DISTRIBUTION OF SICKLE CELL ALLELE AND
MALARIA
 DISTRIBUTION OF SICKLE CELL ALLELE AND
MALARIA
• When the distributions of malaria and sickle
cell anaemia are shown on a map of the work,
it is found that the two coincide in tropical
areas because of the selective advantage of
the HbS  allele in providing protection against
malaria.
• Hb Hb x Hb Hb