Biology I

SB 014
Problem Based Assessment
Title:
GENE MUTATION ( SICKLE CELL ANEMIA )

Name: YEGESWARI MANICKAVASAGAM

ID number: F22070130

Class: A2

Session: July 2022/2023

Lecturer Name: Dr. J.SASIREIGGA

Submission Date:26/9/2022

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 SCHOOL OF GENERAL ANF FOUNDATION STUDIES
FOUNDATION IN SCIENCE
Problem Based Assessment
Co u rs e Na m e: Bi o lo g y 1 Co u rs e Co d e: SB 01 4
Sem e st e r: 1 Ses s i o n: Ju l y 20 2 2 / 2 0 2 3

Co u rs e Le a rn in g CL O3 : Ap p ly co g n it iv e sk i ll s in th e fo r m u la ti o n of pr o b l em s , da ta gat h er i n g
Out c o me an d an a ly s is , an d in te r p r et at io n of res u lt s to so l v e bi o lo g i ca l pr o b l em s .

PL O 3 : Co n d u c t acad e m ic act iv i tie s su ch as co l le ct , an al y se , or g an is e, an d

pr o ces s da ta /i n f o r m at io n to mak e co n cl u si o n s in d iv i d u al ly or in gr o u p s.
Pro g ra m m e Out c o me
PLO5: Utilise basic digital technology applications to seek and process data related to a specific
field of study.

As s ig n me nt Tit le GENE MUTATION ( SICKLE CELL ANEMIA )

Dr .J .S AS I R E I G GA
Le ct u rer Na m e

St u d en t Na m e YE G E S WA RI MA NI CK AV AS AG A M
Ma t ric No F2 2 0 7 0 1 3 0
Cla s s A2
Submission date 26/9/2022

Components Grading Score

4 3 2 1
Introduction The introduction is The introduction The introduction There is no clear
inviting, states the clearly states the states the main topic introduction of the
main topic and main topic and or position, but does main topic, position
position and position, previews not adequately or structure of the
previews the the structure of the preview the structure topics.
structure of the topics, but is not of the topics nor is it
topics. particularly inviting particularly inviting
to the reader. to the reader.

Focus on Topics There is one clear, Main idea is clear Main idea is The main idea is not
(Content) well-focused topic. but the supporting somewhat clear but clear. There is a
Main idea stands out information is there is a need for seemingly random
and is supported by general. more supporting collection of
detailed information. information. information.

2
 Support for Topic Relevant diagram Supporting details Supporting details Supporting details
(Examples) and quality details and examples are and examples are and example are
give the reader relevant, but one key relevant, but several typically unclear or
important example issue or portion of key issues or not related to the
that goes beyond the the key storyline is portions of the topic.
obvious or unsupported. storyline are
predictable. unsupported.

Format Strictly adhered Adhered Need improvement Poor

Plagiarism 0%-30% 30%-40% 40%-50% 50%-100%

(Similarity index)

TOTAL

Performance Indicator
20 - 15 pts. = Excellent
10 - 14 pts. = Good
5 - 9 pts. = Moderate
0 - 4 pts. = Weak

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 CONTENTS

1. Definition and types of Mutation 5

2. Introduction of gene mutation 5-6
3. Introduction of sickle cell anemia 7-9
4. Symptoms of sickle cell anemia 9-10
5. Ways to diagnosis sickle cell anemia 11
6. Treatments for sickle cell anemia 12
7. Additional information about sickle cell anemia 12
8. References 13

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INTRODUCTION OF MUTATION

Mutations are rare, random changes that occur in the sequence of DNA bases in a
gene or a chromosome and it occurs continuously.Mutation may produce a new
characteristic that can be inherited,if it occurs in a gamete.Mutation can be
categorized as gene mutation and chromosomal mutation…

Most mutations do not alter the protein or only alter it slightly so that its appearance
or function is not changed.Mutations happen spontaneously and continuously but their
frequency can be increased by exposure to physical and chemical mutagens like
ultraviolet (UV), alkylating agents base analogues and many more.

INTRODUCTION OF GENE MUTATION

Gene a unit of transcription has alternating positions of exons and introns .Human
genetics deals with the variations between humans.Variations that influence gene
function are usually referred to as mutations.Gene mutations are explicated as changes
in the nucleotide base sequence of a gene which is corresponded to a particular gene.

Causes of Gene Mutations Mutations can occur because of external factors, also
known as induced mutations. Mutagens are external factors that can cause alterations
to DNA. Examples of potentially harmful environmental factors include toxic
chemicals, X-rays and pollution.

Gene mutations occur in two ways which are they can be inherited from a parent or
acquired during a person’s lifetime. Mutations that are passed from parent to child are
called hereditary mutations or germline mutations (because they are present in the egg
and sperm cells, which are also called germ cells). This type of mutation is present
throughout a person’s life in virtually every cell in the body.
Mutations that occur only in an egg or sperm cell, or those that occur just after
fertilization, are called new (de novo) mutations. De novo mutations may explain
genetic disorders in which an affected child has a mutation in every cell, but has no
family history of the disorder.

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There are a lots of disorders cause by the gene mutations.Disorders caused by the
transmission of a single mutant gene show either autosomal or sex-linked
inheritance.Disorders causes by the gene mutation can be divide into 2 autosomal
dominant disorders it will arise due to defect in at least one gene out of a pair genes
on autosomes and autosomal recessive disorders is one of several ways that a trait,
disorder, or disease can be passed down through families. An autosomal recessive
disorder means two copies of an abnormal gene must be present in order for the
disease or trait to develop.HUNTINGTON'S CHORE is an example of autosomal
dominant disorder and SICKLE CELL ANEMIA is one of the example of autosomal
recessive
disorder.

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INTRODUCTION OF SICKLE CELL ANEMIA

Sickle cell anaemia was the first genetic disease discovered as gene mutation.This
disease was dicovered by an American physician James B. Herrick in 1910 and in
1949, sickle cell anemia was determined as a genetic transmission by E. A. Beet and J.
V..The name of the disorder comes from a sickle is a tool used to cut long grass .It is
an autosomal-linked recessive trait that can be transmitted from parents to the off
springs when both the parents are the carrier of the
disease .

.
Sickle cell anemia is an inherited red blood cell disorder in which there aren't enough
healthy red blood cells to carry oxygen throughout human body.Red blood cell
contains haemoglobin which is a quartenary protein and it helps to carry oxygen

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around the body.Normal red blood cells are round and flexible which means they can
bend to move easily through the narrow blood vessels.People with sickle cell anemia
have a change in the haemoglobin gene.This wrong version of gene causes the
haemoglobin to form strands in the red blood cells which makes them inflexible and
gives them a crescent or a sickle shape.It is caused by a defect in the oxygen carrier
molecule, hemoglobin, that leads to impaired oxygen delivery to tissues..Individuals
homozygous for the sickle cell allele exhibit intermittent illness and reduced life span.
Individuals heterozygous for the sickle cell allele are indistinguishable from normal
individuals in a normal oxygen environment, although their red cells do exhibit
reduced ability to carry oxygen..

Sickle cell anemia is caused by a single code letter change in the DNA.Valine sits in
the position where glutamic acid should be.In normal condition there is a triplet on
DNA GAG and when that goes through transcription to the mRNA and then finally
undergo translation it produce amino acid which is glutamic acid (GAA).However,the
base substitution mutation changes the A(adenine)in GAG to GTG and T is Thymine
so when that base substitution that being one single base changing over into a
different base is then transcribed it produces a different codon on mRNA and thus
produces a different amino acid after translation and that amino acid is now valine
(GUA).The valine makes the haemoglobin molecules stick together forming long
fibre that distorted the shape of the red blood cell and this brings on an attack.
There are various types of sickle cell anemia diseases like HEMOGLOBIN SS
Disease which is the most common type of sickle cell disease who has inherit copies
of the hemoglobin S gene from both parents and these individuals will experience the
worst symptoms at a higher rate because this is the most severe form of Sickle cell

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anemia and HEMOGLOBIN SC Disease is a less severe type of sickle cell anemia.It
occurs when people inherit the Hb C gene from one parent and the Hb S gene from
the other. Individuals with Hb SC have similar symptoms to individuals with Hb SS.

SYMPTOMS OF SICKLE CELL ANEMIA…

These unusually shaped red blood cell cause blockages in sections of the blood
vessels.Red blood cell cannot pass through the blockages to reach the cells in tissues
and organs so the cells cannot get oxygen and glucose for respiration and this will
cause pain called sickle cell crisis.There are some symptoms whether it can be either
severe or minor.
Each person may experience symptoms differently:

A baby may start to have symptoms by 6 months

of age like Jaundice (yellowish colour of the
skin), icterus (whites of the eyes), dactylics
(painful swelling of the hands and feet) Splenetic
sequestration and many more.

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DACTYLITIS

JAUNDICE

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WAYS TO DIAGNOSIS SICKLE Hypodermic syringe

CELL ANEMIA…

uterus

amniotic
fluid

Ultrasound
device

Cells from
the chorion

Suction tube

There are a lots of ways to diagnosis this disease and firstly sickle cell anemia can be
diagnosed in prenatal test.This is a process of screening by sampling some of the fluid
surrounding the fetus in the mother’s womb (amniotic fluid) or tissue taken from the
placenta.Sickle cell anemia can diagnosis in children by taking blood from finger or
heel which is the prick test.Sickle cell anemia can be diagnosis by checking patient’s
history through physical exam and finally CBC (complete blood count) can be done to
diagnosis the disease.

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TREATMENTS FOR SICKLE CELL ANEMIA…

Unfortunately there is no prevention steps for this disease but there are numerous
treatments for sickle cell anemia.Before start with medication,eating healthy diet with
lots of fruits ,vegetables,whole grains,and protein, and drink lots of fluid ,exercise
regularly use heating pads for pain relief are important home treatment for sickle cell
anemia patients.Pain medication can be taken by the patients who have the sickle cell
crises.Blood transfusion is a way to treat sickle cell anemia which improves transport
of oxygen and nutrients as needed.And then , supplemental oxygen will help to make
breathing easier and improves oxygen levels in the blood.Vaccination and antibiotics
are to prevent infections.Folic acid used to help prevent severe anemia.Bone marrow
transplant is a way to treat this disease.Children younger than 16 years with severe
complications can do transplantation if get a matching donor.

ADDITIONAL INFORMATION ABOUT SICKLE CELL ANEMIA DISEASE

Having sickle cell allele actually protects people against Malaria.It is because the
malaria parasite is transmitted by female mosquitoes which spend part of its life cycle
inside red blood cell.When these parasites enter the fragile red blood cells of carriers,
the cell often burst before the parasite has time to develop.This means the parasite
dies and the life cycle is broken.

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REFERENCES
BOOK:
 HUMAN GENETICS(BY PAWAN KUMAR DHAR,PUBLISHED BY JAYPEE
BROTHERS MEDICAL PUBLISHERS (P) LTD).
 CAMBRIDGE INTERNATIONAL AS AND A LEVEL BIOLOGY
COURSEBOOK 4TH EDITION (BY MARY JONES,RICHARD
FOSBERY,JENNIFER GREGORY AND DENNIS TAYLOR ,PUBLISHED BY
CAMBRIDGE UNIVERSITY PRESS)
 BIOLOGY 11TH EDITION (BY RAVEN JOHNSON MASON LOSOS AND
SINGER,PUBLISHED BY MC GRAW HILL EDUCATION)

JOURNALS/ARTICLES:
 Facts about sickle cell disease. (2016, November 17). Retrieved from
http://www.cdc.gov/ncbddd/sicklecell/facts.html
 López, C., Saravia, C., Gomez, A., Hoebeke, J., & Patarroyo, M. A. (2010,
November 1) Mechanisms of genetically-based resistance to malaria. Gene,
467(1-2), 1-12 Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/20655368
 What are the signs and symptoms of sickle cell disease? (2016, August 2).
Retrieved from http://www.nhlbi.nih.gov/health/health-topics/topics/sca/signs

INTERNET:
 https://www.msn.com/en-my/health/condition/sickle-cell-
anemia?ocid=entnewsntp
 https://www.healthline.com/health/sickle-cell-anemia#outlook
 https://sicklecellspeaks.com/understanding-sickle-cell/diagnosis/
 https://sicklecellspeaks.com/understanding-sickle-cell/symptoms/
 https://sickle-cell.com/types

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