Control of sickle cell anemiaAQEEL BIN NASRAdvisor: Anders RuterExaminer: Unn-Britt JohanssonSophiahemmet 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 bloodvessels.
• History-In 1904, Walter Clement Noel traveled to studydentistry.-He was hospitalized after developing severerespiratory distress and a leg ulcer.- Dr Irons, performed a routine blood test and aurine 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 about300,000 children annually.- According to recent reports, between 50-80% ofchildren affected.- Malaria is considered to be the main reason of thisshocking death rate (Makani, Komba, Cox et al.,2010 ).-In Saudi-Arabia, 2-27% of the population arethought to have SCA trait and a further 3% percentsickle cell anemia (El-Hazmi, Al-Hazmi & Warsy,2011).
• Pathology-Hemoglobin transports oxygen.- Whether oxygen is bound or not, hemoglobin molecules arepresent as isolated entities inside RBCs. The scenario alterscompletely in the presence of Hbs hemoglobin.-The normal elastic nature of RBCs allows them to alter inshape while passing through small blood vessels. Becausesickled cells are not elastic and therefore cannot alter theirshape, blood vessel occlusion and ischemia occurs.- New RBCs are continuously manufactured in the bonemarrow but in sickle cell anemia the rate of destruction exceedsthe 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 necessarilylead to such newborn infants exhibiting symptoms ofthe disease.- The symptoms usually appear later.- Most anemic individuals feel tired or weak. Sincethere are not enough RBCs in the circulationto doactivity.- Other symptoms of sickle cell anemia includedizziness, headache, difficulty in breathing, cold feetand hands, pale skin and jaundice (Kohne, 2011).
• Sickle cell disease crisis-Sickle cell disease results in anemia and crises that takemany forms, which usually last for between five and sevendays. 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 amajor cause of sickle cell anemia symptoms. Bloodtransfusion therapy and bone marrow transplantation isusually recommended to manage a hemolytic crisis(Hebbel, Vercellotti & Nath, 2009).
• Complications-Since sickle cell anemia is characterized bydestruction of RBCs, the supply of oxygen to variousparts of the body is severely compromised whichleads to various complications (Musumadi,Westerdale& Appleby, 2012).- Pneumonia with infants and children. Moreover,children should be given a dose of a broad spectrumantibiotic (penicillin) on a daily basis to minimizeinfections (Sheng, Chertow, Morens & Taubenberger,2010).-Depression and anxiety account for more pain and apoorer life quality in older patients (Levenson,McClish, Dahman et al., 2008).
• Diagnosis-Sickle cell anemia is easily diagnosed bydetermining, with the aid of a microscope, whethersickle shaped RBCs are present in a blood smear. It isa cheaper but less sensitive diagnostic techniquecompared to gel electrophoresis.-A solubility test is also performed to detect thepresence of variant HbS (Aluoch, 1995).
• Genetics of the disease-Hemoglobinopathies are by far the mostcommon genetic disorders in the worldpopulation.- In recent years the incidence of sickle cellanemia has increased dramatically in Europe. Itis said that, in European countries, the incidenceof sickle anemia is now greater than geneticconditions such as hemophilia and cystic fibrosisRoberts & de Montalembert (2007).
• Inheritance-Humans have 22 chromosome pairs identical inboth the male and female; the 23rd pair is differentand determines the sex of an individual. Onechromosome of each pair is inherited from themother and the other from the father.- A person is said to be a carrier of sickle cell diseaseif he or she has only one sickle cell gene.- A person is said to have sickle cell anemia if bothof the genes coding for the beta chain of the globinmolecule are mutant and code abnormal protein(Creary, Williamson & Kulkarni, 2007).
• Prevention of sickle cell anemia-One of the main approaches to halt this diseasewould be to offered a blood test to screenparents.-It is noteworthy that all babies born in the UKare tested for sickle cell anemia as part of theheel-prick newborn screening test performed bythe midwife.
• Control of sickle cell anemiaOne sure way of preventing this disease is by thescreening of the blood of prospective partnersbefore marriage (Serjeant, 2010). This will help inreducing the incidence of sickle cell anemia andwill also prove beneficial in making the carriersrealize the significance of their condition.
• ProblemareaAs Serjeant and Serjeant (1992) explains, sicklecell disease is a major problem affecting allcountries in the world. International agencies likeWorld Health Organization (WHO), UnitedNations Educational, Scientific and CulturalOrganization (UNESCO) have expressed theirconcerns about the disease terming it as majorthreat to public health.
AIMSThe aim of this study was to explore the scientic basisfor ways of controlling sickle cell anemia.Research Question- How does awareness creation help in controllingsickle cell disease?- What evidence is there for premarital screening as asuccesful way of controlling sickle cell disease?- What education regarding status of their disease beprovided to carriers of sickle cell disease?
METHODS-Literature review on the nature of sickle cell anemia andits control was used in conducting this study.-There are several; reasons why literature review waschosen as the most appropriate methodology for thestudy.- Literature review will allow the researcher to generalizethe findings to the study population. It will also help theresearcher to take control of variation between the studiesidentified for the study. The use of literature review willhelp in detecting any possible bias during the publication.-This method incorporates many studies that wereconducted on the same topic and this minimizes theinfluences by any local bias.
-The PubMed database was the main database thatwas used for the study. This database maintainedby the US National Library of Medicine (NLM).It was chosen because gives free access toMEDLINE, the NLM database of indexedcitations and abstracts. It therefore providesaccess to other relevant web sites and additionallinks to other NCBI molecular biology resources(PubMed and MEDLINE, 2012).
-The main inclusion criteria used in searches was allarticles on sickle cell anemia, and alsohemoglobinopathies that were published between 1910and 2012. The literature review in this thesis thereforecovers more than one century of research, namely theyears 1910-2012.- Secondly the articles included in this study were mainlythose published in English unless they were in otherlanguages that could easily be translated into English.- The articles included in the study were only those thatincluded the most important original scientificcontributions in the literature that discuss current thinkingin the field of sickle cell anemia,...etc .-Any other article that did not meet these qualificationswas excluded from the study.
ETHICAL CONSIDERATION-First, the study included proper citations and referencing forall articles that were used. This is important inacknowledging the works that other people have doneconcerning sickle cell anemia.- Secondly, only the truth as revealed in the research articleswas include. The research outcomes were not modified.- Thirdly, there was no biasness in selecting the articles to beused in the study in order to influence the study results tofavor any individual or organization. Those articles that haveno substantial evidence were excluded in order to avoidrumors and hearsays about the disease.- The study did not consider regional, religious, race, sex, orany other similar characteristics of the authors in identifyingthe articles to be included in the study.
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