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    Literature Review Plan Sickle Cell Disease

    University: University of Aberdeen

    • Unit No: 5
    • Level: High school
    • Pages: 9 / Words 2133
    • Paper Type: Assignment
    • Course Code:
    • Downloads: 292
    Question :


    1. Explain sickle cell disease and sickle cell anaemia?
    2. Analyse similarities between sickle cell anaemia and sickle cell disease?
    3. Overview
    4. How people worldwide are affected from this disease? (Frequency data)
    5. Epidemiology
    6. Malaria—Natural selection (With diagram)

    Section 2:

    1. causes and symptoms of sickle cell disease
    2. Define gene mutation and how it occurs genetically?
    3. What genes are affected by sickle cell disease?
    4. What gene or chromosome is sickle cell disease found in?
    5. How sickle cell disease can be diagnosed? (screening)
      1. Sickle cell screening during pregnancy
      2. New-born screening programme
      3. Sickle cell carriers testing
    • Treatment for sickle cell disease
    • Medication (hydroxyurea)
    • Experimental therapies (Gene therapy)
    • How long the patient can survive with sickle cell disease?
    • prevention from painful episodes
    • New therapeutic approved options for the treatment of sickle cell disease for example: Hydroxyurea and stem cell or bone marrow transplant.
    • Conclusions
    • References (Harvard Style)
    Answer :


    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 it blocks the flow of oxygen hence there is swelling in hands that is the common sign of this illness.

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    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.

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    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 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.

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    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.

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    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 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.

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    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) 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 a specific doses 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 options 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.


    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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