Control of sickle cell anemia

AQEEL BIN NASR

Advisor: Anders Ruter

Examiner: Unn-Britt Johansson

Sophiahemmet university college

BACKGROUND

• Basics to sickle cell anemia

-Hemoglobin Function.

-The variant HbS clusters.

-This clustering distorts RBCs into sickle shapes.

-These rigid reshaped RBCs get trapped in blood vessels.

• History

-In 1904, Walter Clement Noel traveled to study dentistry.

-He was hospitalized after developing severe respiratory distress and a leg ulcer.

- Dr Irons, performed a routine blood test and a urine analysis.

- In 1910 Herrick, the supervisor of Dr Irons, published an article.

- This was the first documented case.

• Epidemiology  

-Sickle cell anemia has a birth prevalence of about 300,000 children annually.

- According to recent reports, between 50-80% of children affected.

- Malaria is considered to be the main reason of this shocking death rate (Makani, Komba, Cox et al., 2010 ).

-In Saudi-Arabia, 2-27% of the population are thought to have SCA trait and a further 3% percent sickle cell anemia (El-Hazmi, Al-Hazmi & Warsy, 2011). 

• Pathology

-Hemoglobin transports oxygen.

- Whether oxygen is bound or not, hemoglobin molecules are present as isolated entities inside RBCs. The scenario alters completely in the presence of Hbs hemoglobin.

-The normal elastic nature of RBCs allows them to alter in shape while passing through small blood vessels. Because sickled cells are not elastic and therefore cannot alter their shape, blood vessel occlusion and ischemia occurs.

- New RBCs are continuously manufactured in the bone marrow but in sickle cell anemia the rate of destruction exceeds the rate of formation.

- Also the life span of sickled cells is short(Malowany & Butany, 2012).

• Signs and symptoms

-The cause of sickle cell anemia, does not necessarily lead to such newborn infants exhibiting symptoms of the disease.

- The symptoms usually appear later.

- Most anemic individuals feel tired or weak. Since there are not enough RBCs in the circulationto do activity.

- Other symptoms of sickle cell anemia include dizziness, headache, difficulty in breathing, cold feet and hands, pale skin and jaundice (Kohne, 2011).

• Sickle cell disease crisis

-Sickle cell disease results in anemia and crises that take many forms, which usually last for between five and seven days. The most common types of crises are reviewed next:* Sickle vaso-occlusive crisis.* Splenic sequestration crisis.* Hemolytic crisis.

-Hemolysis, i.e. accelerated destruction of RBCs, is a major cause of sickle cell anemia symptoms. Blood transfusion therapy and bone marrow transplantation is usually recommended to manage a hemolytic crisis (Hebbel, Vercellotti & Nath, 2009).

• Complications

-Since sickle cell anemia is characterized by destruction of RBCs, the supply of oxygen to various parts of the body is severely compromised which leads to various complications (Musumadi, Westerdale& Appleby, 2012).

- Pneumonia with infants and children. Moreover, children should be given a dose of a broad spectrum antibiotic (penicillin) on a daily basis to minimize infections (Sheng, Chertow, Morens & Taubenberger, 2010).

-Depression and anxiety account for more pain and a poorer life quality in older patients (Levenson, McClish, Dahman et al., 2008).

• Diagnosis

-Sickle cell anemia is easily diagnosed by determining, with the aid of a microscope, whether sickle shaped RBCs are present in a blood smear. It is a cheaper but less sensitive diagnostic technique compared to gel electrophoresis.

-A solubility test is also performed to detect the presence of variant HbS (Aluoch, 1995). 

• Genetics of the disease

-Hemoglobinopathies are by far the most common genetic disorders in the world population.

- In recent years the incidence of sickle cell anemia has increased dramatically in Europe. It is said that, in European countries, the incidence of sickle anemia is now greater than genetic conditions such as hemophilia and cystic fibrosis Roberts & de Montalembert (2007).

• Inheritance

-Humans have 22 chromosome pairs identical in both the male and female; the 23rd pair is different and determines the sex of an individual. One chromosome of each pair is inherited from the mother and the other from the father.

- A person is said to be a carrier of sickle cell disease if he or she has only one sickle cell gene.

- A person is said to have sickle cell anemia if both of the genes coding for the beta chain of the globin molecule are mutant and code abnormal protein (Creary, Williamson & Kulkarni, 2007).

• Prevention of sickle cell anemia

-One of the main approaches to halt this disease would be to offered a blood test to screen parents.

-It is noteworthy that all babies born in the UK are tested for sickle cell anemia as part of the heel-prick newborn screening test performed by the midwife.

• Control of sickle cell anemia

One sure way of preventing this disease is by the screening of the blood of prospective partners before marriage (Serjeant, 2010). This will help in reducing the incidence of sickle cell anemia and will also prove beneficial in making the carriers realize the significance of their condition.

• Problemarea

As Serjeant and Serjeant (1992) explains, sickle cell disease is a major problem affecting all countries in the world. International agencies like World Health Organization (WHO), United Nations Educational, Scientific and Cultural Organization (UNESCO) have expressed their concerns about the disease terming it as major threat to public health.

AIMS

The aim of this study was to explore the scientic basis for ways of controlling sickle cell anemia.

Research Question

- How does awareness creation help in controlling sickle cell disease?

- What evidence is there for premarital screening as a succesful way of  controlling sickle cell disease?

- What education regarding status of their disease be provided to carriers of sickle cell disease?

METHODS

-Literature review on the nature of sickle cell anemia and its control was used in conducting this study.

-There are several; reasons why literature review was chosen as the most appropriate methodology for the study.

- Literature review will allow the researcher to generalize the findings to the study population. It will also help the researcher to take control of variation between the studies identified for the study. The use of literature review will help in detecting any possible bias during the publication.

-This method incorporates many studies that were conducted on the same topic and this minimizes the influences by any local bias.

-The PubMed database was the main database that was used for the study. This database maintained by the US National Library of Medicine (NLM). It was chosen because gives free access to MEDLINE, the NLM database of indexed citations and abstracts. It therefore provides access to other relevant web sites and additional links to other NCBI molecular biology resources (PubMed and MEDLINE, 2012).

-The main inclusion criteria used in searches was all articles on sickle cell anemia, and also hemoglobinopathies that were published between 1910 and 2012. The literature review in this thesis therefore covers more than one century of research, namely the years 1910-2012.

- Secondly the articles included in this study were mainly those published in English unless they were in other languages that could easily be translated into English.

- The articles included in the study were only those that included the most important original scientific contributions in the literature that discuss current thinking in the field of sickle cell anemia,...etc .

-Any other article that did not meet these qualifications was excluded from the study.

ETHICAL CONSIDERATION

-First, the study included proper citations and referencing for all articles that were used. This is important in acknowledging the works that other people have done concerning sickle cell anemia.

- Secondly, only the truth as revealed in the research articles was include. The research outcomes were not modified.

- Thirdly, there was no biasness in selecting the articles to be used in the study in order to influence the study results to favor any individual or organization. Those articles that have no substantial evidence were excluded in order to avoid rumors and hearsays about the disease.

- The study did not consider regional, religious, race, sex, or any other similar characteristics of the authors in identifying the articles to be included in the study.

REFERENCES11- Hebbel, R.P., Vercellotti, G.M., Nath, K.A. (2009). A Systems Biology Consideration of the Vasculopathy of Sickle Cell Anemia: The Need for Multi-Modality Chemo-Prophylaxis. Cardiovascular & Haematological Disorders-Drug Targets. 9, 271-292.

12- Hickman, M., Modell, B., Greengross, P., Chapman, C., Layton, M., Falconer, S., Davies , S.C. (1999). Mapping the prevalence of sickle cell and beta thalassaemia in England: estimating and validating ethnic-specific rates. British Journal of Haematology. 104(4), 860-7.

13- Kamble, M., & Chaturvedi, P. (2000). Epidemiology of sickle cell disease in a rural hospital of central India. Indian pediatrics, 37(4), 391-396.

14- Kohne, E. (2011). Hemoglobinopathies: clinical manifestations, diagnosis, and treatment. Deutsches Arzteblatt International. 108(31-32), 532-40.

15- Kutlar, A. (2007). Sickle cell disease: a multigenic perspective of a single gene disorder. Hemoglobin. 31(2), 209-24.

16- Levenson, J.L., McClish, D.K, Dahman, B.A., Bovbjerg, V.E., de A Citero, V., Penberthy, L.T., Aisiku, I.P., Roberts, J.D., Roseff, S.D., Smith, W.R. (2008). Depression and anxiety in adults with sickle cell disease: the PiSCES project. Journal of Biobehavioral Medicine. 70(2), 192-6.

17- Makani, J., Komba, A.N., Cox, S.E., Oruo, J., Mwamtemi, K., Kitundu, J., Magesa, P., Rwezaula, S., Meda, E., Mgaya, J., Pallangyo, K., Okiro, E., Muturi, D., Newton, C.R., Fegan, G., Marsh, K., Williams, T.N. (2010).

18- Malaria in patients with sickle cell anemia: burden, risk factors, and outcome at the outpatient clinic and during hospitalization. Blood. 115, 2215-2220.

19- Malowany, J.I., Butany, J. (2012). Pathology of sickle cell disease. Seminars in Diagnostic Pathology. 16(5), 575-82.

20- Musumadi, L., Westerdale, N., Appleby, H. (2012). An overview of the effects of sickle cell disease in adolescents. Nursing Standard. 26(26), 35-40.

21- National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-. Anemia, sickle cell. Available from: http://www.ncbi.nlm.nih.gov/books/NBK22238/.

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23- Oguanobi, N.I., Ejim, E.C., Anisiuba, B.C., Onwubere, B.J., Ike, S.O., Ibegbulam, O.G., Agwu, O. (2012). Clinical and Electrocardiographic Evaluation of Sickle-Cell Anaemia Patients with PubMed and MEDLINE (2012) (http://www.nlm.nih.gov/services/pubmed.html).

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27- Reagan, M.M., DeBaun, M.R., Frei-Jones, M.J. (2011). Multi-Modal Intervention for the Inpatient Management of Sickle Cell Pain Significantly Decreases the Rate of Acute Chest Syndrome. Pediatric Blood Cancer. 56(2): 262–266.

28- Roberts I., de Montalembert, M. (2007). Sickle cell diseaseas a paradigm of immigration hematology: new challenges for hematologists in Europe. Haematologica. 92(7), 865–71.

29- Serjeant, G. R., & Serjeant, B. E. (1992). Sickle cell disease(p. 44). New York : Oxford university press.

30- Sheng, Z., Chertow, D.S., Morens, D.M., Taubenberger, J.K. (2010). Fatal 1918 Pneumonia Case Complicated by Erythrocyte Sickling . Emerging Infectious Diseases. 16(12), 2000–2001.

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