Jacob Long

ST AUGUSTINE'S COLLEGE

Sickle-cell
Anaemia
Year 10 Biology

Sickle-cell Anaemia (SCD)

Year 10 Biology Jacob Long
Genetic disorders are diseases caused by abnormalities in inherited genes, such as
missing or incomplete genetic information. A human chromosome contains hundreds
to thousands of genes, yet only a single mutated gene is required for most genetic
disorders to develop. There are numerous factors that categorize any genetic
disorder, including how the disorder is inherited, the gene that causes the disorder
and how many mutated genes are required to develop the disorder (Genetics Home
Reference, 2014).
Sickle-cell Anaemia (SCD) is a single-gene autosomal recessive genetic disorder
involving a mutated form of haemoglobin which causes red blood cells to distort into
a sickle shape (hence the name) at low oxygen levels. This severe form of Anaemia
is primarily caused by the mutation of the Beta Haemoglobin gene (HBB), which
occurs spontaneously during cell division (Mayo Clinic, 2014). The severity of the
disease can differ from person to person, however as a form of anaemia, it ultimately
causes red blood cell deficiency in all sufferers.
Sickle-cell Anaemia is a hereditary disorder which is contracted at conception
through the inheritance of mutated genes. The disorder is autosomal recessive,
meaning two mutated genes must be inherited for the disorder to develop (one from
each parent). The study (Gibbons et al, 2015) showed that Abnormal haemoglobin,
called haemoglobin S, causes sickle cell disease due to a small genetic defect.
People with darker skin are generally more prone to contracting Sickle-cell Anaemia
due to their genetic coding which is largely different to that of a European.
Approximately 1 in 12 people of African-American descent are born with Sickle-cell
trait (a single mutated sickle-cell) which causes mild anaemia symptoms. Because of
this, there is a greater chance of a dark-skinned couple producing offspring that will
inherit two sickle-cell genes, and therefore contracting Sickle-cell Anaemia. With
every pregnancy, parents who both suffer sickle-cell trait have:
A 25% chance of having an unaffected child with normal hemoglobin
A 50% chance of having a child who also is a carrier
A 25% chance of having a child with sickle cell Anaemia
(Mayo Clinic, 2015)
People with this disorder show various symptoms as a result of red blood cell
distortion, however most dont show until the patient has reached at least 4 months
of age, making early diagnosis difficult. Patients may suffer periodic episodes of pain,
mostly concentrated in the chest, joints and abdomen due to the distorted blood cells
blocking narrow blood capillaries. Due to the same blockages, the patient also
inadvertently suffers iron and oxygen deficiency, as the clogged blood cells are
unable to supply surrounding tissues with oxygen (US Department of Health, 2015).
Furthermore, the patient may suffer additional lethargy and general poor health. The
rapid death of sickle cells contributes to the same effects, as their fragile frame often
causes them to fracture, rendering them just as useless as a clogged blood cell.
Less common symptoms such as impaired vision, delayed growth and a weakened
immune system may also be caused by the effect of red blood cell deficiency
(Queensland Health Department, 2015).

Fortunately, there are various tests that can be done to determine if an individual has
contracted the disorder, as well as observing the obvious symptoms. A simple blood
test can detect the defective form of haemoglobin haemoglobin S. Depending on
the results, further tests may be done to determine exactly how many defective
genes the patient has one or two. Early diagnosis of sickle-cell Anaemia is difficult,
as patients dont usually show symptoms until 4 months of age. The most common
method of diagnosing a patient before birth is to test the mothers amniotic fluid (fluid
surrounding the baby in the womb), however this test is usually only done if a parent
has a sickle-cell trait (Medscape, 2015).
There are numerous prevention and treatment methods that may be applied to SCD.
Currently, the only effective cure is a stem-cell transplant (bone-marrow transplant),
which has serious risks associated with it. Not only is it difficult to find a donor who
shares similar genes, but the chance of the patients immune system rejecting the
donation is too high, which is why the treatment is condemned by mainstream
medicine. For safety, most treatments aim at easing the pain caused by blood clogs.
These include pain killers, blood transfusions and supplemental oxygen (Mayo
Clinic, 2015). Specific medications include antibiotics such as penicillin to prevent
infections, Panadol to ease pain and Hydroxyurea which stimulates the production of
foetal haemoglobin. A major prevention method is the use of vaccines, as sufferers
of Sickle-cell Anaemia are likely to react severely to common viruses. Ultimately,
healthy practices such as consuming lots of water and avoiding extreme
temperatures will supress the symptoms of SCD (US Department of Health, 2015).
Sickle-cell Anaemia is one of many genetic disorders. Our genes are hereditary,
meaning our genetic make-up depends completely on the genes inherited from past
generations. Because of this, most genetic disorders cannot be prevented. An
individuals appearance, abilities and body functions are all dependent on their
genetic make-up and their inherited genes. Similarly, hereditary disorders such as
Sickle-cell Anaemia are solely dependent on whether or not sickle-cell trait exists in
the family.

Bibliography
Genetics Home Reference. (2014, 11 8). Chromosome 1. Retrieved from Genetics Home
Reference: http://ghr.nlm.nih.gov/chromosome/1
Gibbons et al, D. G. (2015, 9 8). National Heart, Lung and Blood Instutute. Retrieved from
US Dep of Health & Human services:
https://www.nhlbi.nih.gov/news/spotlight/fact-sheet/dr-gary-h-gibbons-radiointerview-yolanda-adams-morning-show-%E2%80%93-sickle-cell-disease
Mayo Clinic. (2014, 6 11). Sickle-cell Anaemia. Retrieved from Mayo Clinic:
http://www.mayoclinic.org/diseases-conditions/sickle-cellanemia/basics/definition/con-20019348
Medscape. (2015, 10 15). Sickle Cell Anaemia Differential Diagnosis. Retrieved from
Medscape: http://emedicine.medscape.com/article/205926-differential
Queensland Health Department. (2015, 11 2). Pain Management: Sickle cell disease.
Retrieved from WebMD: http://www.webmd.com/pain-management/painmanagement-sickle-cell-disease

US Department of Health. (2015, 6 22). Sickle Cell Disease and Clinical trials. Retrieved
from US Food and Drug Administration:
http://www.fda.gov/ForConsumers/ByAudience/MinorityHealth/ucm451865.htm