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Sickle Cell Anaemia Print

Sickle cell anaemia is caused by an abnormal haemoglobin which changes red blood cells into a sickle shape, causing painful crises. It is inherited when both parents carry the sickle cell trait, and was maintained in some populations by conferring resistance to malaria in trait carriers.

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28 views

Sickle Cell Anaemia Print

Sickle cell anaemia is caused by an abnormal haemoglobin which changes red blood cells into a sickle shape, causing painful crises. It is inherited when both parents carry the sickle cell trait, and was maintained in some populations by conferring resistance to malaria in trait carriers.

Uploaded by

joshuapaulf9
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as PDF, TXT or read online on Scribd
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Sickle Cell Anaemia

Symptoms

 Sickle cell anaemia was the first genetic disease to be described in terms of
a gene mutation
 A gene mutation is a change in the base sequence of DNA
 The mutation changes the molecule haemoglobin, causing the red blood
cells (RBC’s) to become stiff and sometimes sickle-shaped when they
release oxygen to the body tissues
 The sickled cells tend to get stuck in narrow blood vessels, blocking the
flow of blood
 As a result, those with sickle cell disease suffer painful “crises” in their joints
and bones
 They may suffer strokes, blindness, or damage to the lungs, kidneys, or
heart. They must often be hospitalized for blood transfusions and are at risk
for a life-threatening complication called acute chest syndrome
 Although many sufferers of sickle cell disease die before the age of 20,
modern medical treatments can sometimes prolong these individuals’ lives
into their 40s and 50s

Sickle cell anaemia is caused by abnormal haemoglobin which changes the


shape of red blood cells
Inheritance

 There are two versions or alleles of the gene important for the inheritance of
sickle cell anaemia : A and S
 The two alleles are codominant, meaning there is no ‘dominant’ or
‘recessive’ version of the gene
 Individuals with two A alleles (HbAHbA) have normal haemoglobin, and
therefore normal RBCs
 Those with two S alleles (HbSHbS) develop sickle cell anaemia
 Those who are heterozygous for sickle cell (HbAHbS) produce both normal
and abnormal haemoglobin (as the alleles are codominant)
 Heterozygous individuals are usually healthy, but they may suffer some
symptoms of sickle cell anaemia under conditions of low blood oxygen,
such as high altitudes or during exercise
 Heterozygous individuals are said to be ‘carriers’ of the sickle cell gene and
are said to have ‘sickle cell trait’
 Inheritance of sickle cell trait:

If one parent is a carrier of the sickle cell trait, there is a ½ chance their
offspring will inherit the trait
 Inheritance of sickle cell disease:

If both parents are carriers of the sickle cell trait, there is a ¼ chance they will
have a child that suffers from sickle cell disease

Sickle cell anaemia & natural selection

 In the United States, about 1 in 500 African-Americans develops sickle cell


anaemia
 In Africa, about 1 in 100 individuals develops the disease
 Why is the frequency of such a serious disease so much higher in Africa? The
answer is to do with malaria
 Malaria is a disease spread by mosquitoes that are endemic in many areas
of Africa and causes over 1 million deaths per year
 In the late 1940s, studies of diseases in populations suggested a connection
between African populations, malaria and sickle cell disease
 A theory was suggested; if the heterozygous individuals (Hb AHbS) are
protected from malaria, and the negative effects (of sickle cell) are only
present in the small proportion of people who are homozygous for the affected
allele (HbSHbS), then the affected allele could become more common
 Later studies supported this theory, showing that African children who are
heterozygous for the sickle cell allele have a ten-fold reduction in their
risk of getting malaria
 This means that there is a strong correlation between the prevalence of sickle
cell anaemia in areas of the world where malaria is common

In areas of Africa where malaria is common, there is a corresponding higher


rate of sickle cell disease

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