Literature Review on Sickle Cell Disease

This literature review provides an in-depth analysis of sickle cell disease, including its causes, symptoms, diagnosis, treatment options, and the duration of survival. It explores the impact of gene mutation, ways of diagnosing the disease, and new therapeutic options. The study also highlights the challenges faced by individuals with sickle cell disease and the importance of proper management and lifestyle choices.

Literature review Plan
Sickle Cell
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Table of Contents
INTRODUCTION...........................................................................................................................3
Causes and symptoms of sickle cell disease................................................................................3
Gene mutation and how it occurs.................................................................................................4
What chromosome is sickle cell disease found in.......................................................................4
Ways of diagnosing sickle cell disease........................................................................................5
Treatment for Sickle cell disease.................................................................................................5
Duration of survival in Sickle cell disease...................................................................................6
New therapeutic options for treatment of sickle cell disease.......................................................6
CONCLUSION................................................................................................................................7
REFERENCES................................................................................................................................8
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INTRODUCTION
Sickle cell disease refers a group of disorders which affects molecules present in red
blood cells which are mainly responsible for delivering oxygen to cells throughout the body.
Sickle cell anaemia is red blood cell disorder (Pham, Pham and Lew, 2020). A person who is
affected with this disease does not have healthy red blood cells who can deliver oxygen
throughout the body. It blocks blood ans well as oxygen flow to different parts of body. This
study is going to show numbers of people worldwide who are affected to this disease and
impacts of this disease on their health. It has affected approximate 100,000 Americans and
approximate 250 million people worldwide has been affected. This study also shows ways of
diagnosing sickle cell disease and preventing people from this. There are different ways and
treatments by which patients of this disease can be diagnosed and cured. Further, this study will
also discuss the approximate and maximum time limit to which patients of sickle cell disease can
survive. Epidemiology refers a study of knowing diseases which occur on people or may in other
animals as when, how and where specific they occur. Malaria is a life threatening disease which
is being caused by parasites which are transmitted to people via the bites of infected female
Anopheles mosquito.
Causes and symptoms of sickle cell disease
As per the view of Wheeler and et.al., (2019) sickle cell anaemia is the disease in which
persons do not have enough healthy red blood cells in body due to which person fails to carry
enough oxygen throughout body. Normal person has flexible round red blood cells and this
shape helps in moving through blood vessels easily but the person with sickle cell anaemia has
crescent moons shape of red cells due to which there is blockage in flow of blood. Decrease the
number of red blood cells causes this issue in human being.
According to Biswal and et.al., (2019) If the person is suffering from this illness then
symptoms can be appeared in early age of 5 months. One of the common sign of this health issue
is anaemia. As number of red blood cells decrease hence it reduces level of haemoglobin in
human body. Sickle cells can live only 10 to 20 days in the suffered human body whereas in
normal body it has live of 120 days and then it is replaced with new cells. Hence, shortage life of
red blood cells causes anaemia issue in person. Peterfy, Tomecsek and Kavanagh, (2018), argued
that person who is suffering from sickle cell anaemia have sign of swelling in hands and feet. As
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it blocks the flow of oxygen hence there is swelling in hands that is the common sign of this
illness.
Causes
Piel, Steinberg and Rees, (2017) stated that one of the major cause of suffering from
sickle cell anaemia is mutation in gene. Human body needs iron rich compound and these
components help in formation of new red blood cells that enable in carrying oxygen from lungs
to entire body. But due to abnormal haemoglobin it becomes rigid and cause that issue in human
being. If mother and father have issues in red blood cells then this disease pass to their child and
child get affected from this illness.
Gene mutation and how it occurs
According to the Azari-Yam and et.al., (2016) Gene mutation is a permanent alteration in
the DNA sequence which makes up a gene. It differs and vary person to person. In the context of
mutation it can be said that it can affect anywhere of the body from a single DNA building block.
These differences and changes in mutation is one of the main cause of diversity among
organisms. So, it can be said that it refers changes that affect nucleic acids.
As per the Cattoni and et.al., (2019) Genetic mutation are of 2 ways such as hereditary
and acquired mutation. Hereditary mutation occur from a parent and present in an individual's
body throughout their life as well as virtually every cell in the body. These types of mutation are
present in parents' eggs so, it is also considered germ cells. On the other hand, acquired mutation
inherent or occur for some time of period in an individual's life and also present in only some
cells. IT occurs due to some changes in environmental factors such as ultraviolet radiation. It
cannot be passed in the next generation.
What chromosome is sickle cell disease found in
In the context of chromosome and gene, it is stated by Hamm and Rounds, (2019) that
mutation in the HBB gene of chromosome 11 cause sickle cells. The Beta Globin protein is one
of the main subunit of haemoglobin. In this context, it can also be said that there is a requirement
of protein for delivering oxygen and completing this function of red blood cells. So, it can be
said that it occurs by a mutation in the haemoglobin beta gene which is being mainly found on
chromosome 11.
It is also stated by Williams and et.al., (2018) that people who are affected to this disease,
haemoglobin S which is known as abnormal haemoglobin molecules stick to each other and form
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a very long structure as like a rod. This rod like structure makes red blood cells stiff in a sickle
shape. This sickle shape blocks red blood cells as well as also damages organs. This blockage
impacts on flow of oxygen and blood through vessels that leads lungs diseases. So, the main
chromosome found in is chromosome 11.
Ways of diagnosing sickle cell disease
There are different ways of diagnosing sickle cell disease and it depends upon the type
and patients. For example, there are different ways of diagnosing for pregnant women and for
new born baby. According to the Yadufashije, Sangano and Samuel, (2017) there are some
medications which can help to treat pregnant lady if she is suffering from sickle cell disease. One
of the best medication is hydroxyurea medicine that helps them in preventing red blood cells
from sickling. With continuous and effective prenatal care also they can be cured.
On the other hand, Chong and et.al., (2017) treating or diagnosing newborn baby with
sickling, initial screening test plays an important role and it is the best way to protect new born
baby against sickle cell disease. Haematologists or specialist doctor in diagnosing children or
new born baby in sickle cell disease can treat blood disorders. AA blood spot from a prick on a
baby's heel is used to diagnose or scree several genetic condition.
Whereas, as per the Hussein and et.al., (2018) a common testing of sickle cell disease is
other way of diagnosing. It is a normal blood test by which people can know that whether they
are affected with this disease or not. It also determines the presence of haemoglobin S in a blood
sample as well as detect mutation which produce haemoglobin in order to diagnose sickle cell
anaemia.
Treatment for Sickle cell disease
There are mainly 2 types of treatments by which sickle cell disease can be treated such as
medication and experimental therapies. As per the view of Loiselle and et.al., (2016) medication
plays an important role in treating people who are suffering from sickle cell disease. There are
different types of medications such as: Adakveo, pain relieving medication, droxia etc. Taking
droxia on a daily basis can decrease the frequency of painful crises as well as need for
hospitalization. In pain relieving medication, specialists prescribe narcotics medicine as it helps
patients in relieving pain at the time of sickle cell pain crisis.
On the other hand, Jayavaradhan and Malik, (2018) stated that rather, medications, come
types of sickle cell disease can be treated with experimental therapies which helps people in
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improving their blood flow which is the main cause of this disease. One of the best therapy for
treatment of sickle cell disease is gene therapy. In this therapy, functioning copy of the HBB
gene is delivered into individuals body who are affected to sickle cell disease. This is the most
used and successful therapy which makes patients and people able to produce their own healthy
red blood cells. Some examples of this therapy are: CTX001 which is given by CRISPR
therapeutics. The main aim of these therapies are to improve blood flow as well as decreasing the
number of blood cells which get trapped inside blood vessels such as: Ticagrelor, Rivipansel etc.
Other types of therapists are anti-inflammatory whose main aim is to reduce pain in patients by
decreasing immune response. These types of therapies include: ACZ885 and NKTT120.
Duration of survival in Sickle cell disease
In the context of survival rate and duration of survival it can be said that the approximate
life expectancy is 42-47 years. People who are affected to sickle cell disease face many problems
like critical or severe pain episodes, organ damages, strokes etc. As per the view of Ballas and
et.al., (2018) people with not having critical SCD or having mildly symptomatic SCD are more
likely to live long lives if they follow proper medications and management of the disease. It can
also be said that the rate of survival and duration of survival in this disease is mainly depend
upon the lifestyle of people, if people follow a proper and healthy lifestyle, diet, exercise than
they are more likely to live longer.
On the other hand Thein, Igbineweka and Thein, (2017) stated that survival duration and
life expectancy also depend upon the type of disease and age. For example: for children and
adults the age of death is 42 for males and 48 for females. Those people who are affected sickle
cell haemoglobin C disease, media age of death is 60 years for males and 68 for females. The
main reason of death is identified in adults with sickle cell disease is organ failure which happens
in severe and critical type. In the context of mortality rate and the % of people who died in this
type of disease after a certain time is 5%. This was for people with the age of 19-35 (How Sickle
Cell Anemia Affects Life Expectancy, 2018). As per the study, it is also stated that approximate
16,000 sickle cell disease death happened between the year of 1979 and 2005. From this number
of deaths, life expectancy rate is identified which was 38 for males and 42 for females.
New therapeutic options for treatment of sickle cell disease
Rather, medications and therapies there are several advanced and new therapeutic options
which are being used in treatment of sickle cell disease. According to the Matte and et.al., (2019)
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one of the main and effective therapeutic option is hydroxyurea which is an anti cancer agent are
mainly being used to treat melanoma of the ovary and primary cell of the neck and the head. This
is available under some brand such as: Hydrea and Droxia. There is a requirement to give
specific dose to patients as per the type of disease. It cannot be exceeded from 35 mg/kg/day. On
the other hand, it is also identified that this new and advanced therapeutic have some side effects
which include: leukaemia, anaemia and Myelosuppression. In addition, in the context of new
therapeutic option in sickle cell disease, it is identified that bone marrow transplantation is the
best and known cure. In this type, abnormal stem cells are replaced which resides in bone
marrow with healthy effective cells.
CONCLUSION
From the above study, it has been summarized that medications or treatments played a
vital role in improving health of patients and people who are suffering or affected from sickle
cell disease. This study has shown symptoms as well as causes of sickle cell disease such as:
mutation in gene and anaemia. It has also shown Gene mutation as what it is in sickle cell and
what gene affected by sickle cell disease. Further, this study has discussed several treatments for
sickle cell disease as well as the time period and duration of survival of affected people from
sickle cell.
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REFERENCES
Books and journals
Azari-Yam, A. and et.al., 2016. FLT3 Gene Mutation Profile and Prognosis in Adult Acute
Myeloid Leukemia. Clinical laboratory. 62(10). pp.2011-2017.
Ballas, S.K. and et.al., 2018. The effect of iron chelation therapy on overall survival in sickle cell
disease and β‐thalassemia: A systematic review. American journal of
hematology. 93(7). pp.943-952.
Biswal, S. and et.al., 2019. Oxidative stress, antioxidant capacity, biomolecule damage, and
inflammation symptoms of sickle cell disease in children. Hematology. 24(1). pp.1-9.
Cattoni, A. and et.al., 2019. Phenotypic variability in two siblings with monogenic diabetes due
to the same ABCC8 gene mutation. Pediatric diabetes. 20(4). pp.482-485.
Chong, S.C. and et.al., 2017. Expanded newborn metabolic screening programme in Hong Kong:
a three-year journey. Hong Kong Med J, 23(5), pp.489-496.
Hamm, J. and Rounds, G., 2019. Sickle Cell Disease in East Tennessee. Grand Rounds.
Hussein, N. and et.al., 2018. Preconception risk assessment for thalassaemia, sickle cell disease,
cystic fibrosis and Tay‐Sachs disease. Cochrane Database of Systematic Reviews. (3).
Jayavaradhan, R. and Malik, P., 2018. Genetic therapies for sickle cell disease. Pediatric
Clinics. 65(3). pp.465-480.
Loiselle, K. and et.al., 2016. Systematic and meta-analytic review: medication adherence among
pediatric patients with sickle cell disease. Journal of pediatric psycholog., 41(4).
pp.406-418.
Matte, A. and et.al., 2019. New therapeutic options for the treatment of sickle cell
disease. Mediterranean journal of hematology and infectious diseases. 11(1).
Peterfy, R., Tomecsek, K. and Kavanagh, P., 2018. Sickle Cell Emergencies. Emergency
Medicine Reports. 39(10).
Pham, P.T.T., Pham, P.C.T. and Lew, S.Q., 2020. Sickle Cell Disease. In Chronic Renal
Disease (pp. 813-830). Academic Press.
Piel, F.B., Steinberg, M.H. and Rees, D.C., 2017. Sickle cell disease. New England Journal of
Medicine. 376(16). pp.1561-1573.
Thein, M.S., Igbineweka, N.E. and Thein, S.L., 2017. Sickle cell disease in the older
adult. Pathology. 49(1). pp.1-9.
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Wheeler, R. and et.al., 2019, May. A concise review of the musculoskeletal imaging features of
Sickle Cell Anaemia. ESSR 2019 Annual Scientific Meeting.
Williams, L.M. and et.al., 2018. A locus on chromosome 5 shows African ancestry–limited
association with alloimmunization in sickle cell disease. Blood advances. 2(24).
pp.3637-3647.
Yadufashije, D., Sangano, G.B. and Samuel, R., 2017. Prevalence of Sickle Cell Disease in
Pregnant Women and Neonates in Africa. International Journal of Interdisciplinary
Innovative Research & Development (IJIIRD). 2(1).
Online
How Sickle Cell Anemia Affects Life Expectancy. 2018. [Online]. Available through
<https://www.healthline.com/health/sickle-cell-prognosis>
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