Sickle cell disease

SICKLE CELL DISEASE 18

Author’s name

is an ailment condition that present at birthand it is normally inherited. Although young children do not portraythe signs of this disease, research has shown that they start showingthe signs at the age of 4 years. has presented ahuge challenge to humanity across the world (Bloom, 2012). It is oneof the most common diseases across the world. It is a disease that ishaving negative effects to millions of people across the world. Thedisease subjects its victims to undue pain and suffering since thedisease is genetic and does not occur as a result of negativebehavioral choices. Research has indicated that this one of the mostcommon genetic diseases in the life of humanity. Despite thesefindings, the disease is yet to receive sufficient financial support,as well as psychosocial assistance to help the numerous adolescentsand adults suffering from the disease. This should, however, not betaken to assume that the disease has not been receiving attentionfrom medical departments. Notable is that the attention it receivesis insufficient.

There has been tremendous progress and steps made in the diagnosisand treatment of the disease over the years. This has been madepossible by the technology that enables early detection and countermeasures. Such steps have ensured that the victims do not sufferimmense pain and have longer life expectancy. Not long ago, the lifeexpectancy of sickle cell disease patients was 20 years (Collins,2010). However, the advancements in diagnosis and treatment has sincedoubled this life expectancy. Research has, however, shown that thereis a lot which needs to be done in the developing countries. Thediagnosis and treatment has also enabled the victims to be physicallyproductive and therefore generate income. The medical treatment costsfor the disease have been cited as being extremely high. This hascalled for various governments across the world to introducevaccinations to counter the disease. America leads in the fightagainst the disease through vaccination. There needs to be anincreased awareness of the disease, as well as the needs of sicklecell disease patients.

The bone marrow transplant has been one of the primary and crucialdevelopments in the search for a cure for the disease. The method isextremely expensive and it is not widely used. Gene therapy has alsobeen one of the vital developments in the search for a cure for thedisease. This research paper seeks to discuss what the diseaseentails. It also seeks to find out the various symptoms of thedisease as well as the risk factors for the disease (Tapper, 2009).Additionally, the paper also discusses the various treatment optionsand prevention measures available for patients. Recent developmentsin the search for a cure for the disease are also looked into.

Description of sickle cell disease

(SCD), was discovered in 1910 by Dr. JamesHerrick. The disease received little or no attention from thegovernment until 1972 when the National Sickle Cell Anemia ControlAct (NSCACA) was established. , also called sicklecell anemia is a disease that is characterized by the presence ofsickle shaped red blood cells. The cells appear abnormal and rigidand therefore cannot carry out their functions effectively. Sicklecell disease is a chronic disease that is characterized by immensepain which is widely known as the sickle cell crisis (Bloom, 2012).However, researchers have pointed out to other forms of pain that thevictims of this disease go through. It is evident that the victims ofsickle cell disease go through psychological, social and financialstruggle that are associated with any form of chronic disease. Thephysical pain that they go through renders them physically incapableof performing their duties which would otherwise generate income.Socially, the victims of this disease are viewed as outcasts by manycultures across the world. Victims are unable to socialize to thesame degree with the healthy people. In addition, the recurrence ofcrisis may cause victims to miss out on various social events(Schecter et al., 2010). It is abundantly clear that the victims gothrough immense psychological pain which is caused by the thought ofthe existence of a chronic disease that is incurable. It is alsoclear that in many countries in Africa and India, the disease isconsidered as a curse and victims are subsequently ostracized fromthe society (Shaprior, 2011).

is genetic and it is acquired at birth. Thepeople suffering from this disease are born infected with it.Consequently, patients undergo pain and suffering which is not as aresult of their negative behavioral choices. The disease is caused bythe presence of an abnormal hemoglobin in the red blood cells, whichchanges the shape of the cells. The hemoglobin S. is mainly activewhen the cells are exposed to low levels of oxygen (Moore et al.,2008). Once the sickle shaped red blood cells are unable to transportsufficient oxygen to the body tissues bones and various organs.Research has indicated that the sickle shaped red blood cells aretypically placed in the blood vessels hence interfering with the flowof the blood. This results into the condition which is called sicklecell crisis (Bloom, 2012). This is a form of prolonged and intensepain which requires patients to seek medical attention. Besides thispain, the disease has other long term effects which are necrosis,shortened life expectancy, and joint damage and organ damages.

crisis can last for weeks or months and patientsmust seek medical help. The cost of seeking medication for thisdisease has been cited as being extremely high for the averagecitizen. Majority of families with SCD patients are faced withfinancial burdens. Center for Disease Control in the USA states thatthe annual cost for medical attention for children with SCD is $13000higher than for healthy children. According to the Center for DiseaseControl, there were 197333 annual cases of SCD emergency room visitsin the USA alone between the years 1999 and 2007. Although thedisease seems to affect a small percentage of people, it is clearthat it poses a huge challenge to the affected people and theirfamilies (Ekvall &amp Ekvall, 2008). The statistics are also awakeup call for the health care system to address the problem thatthe disease has become.

Genes associated with sickle cell disease and how it is formed

In order to effectively understand the genes that areassociated with sickle cell disease, it is imperative to look at thecomposition of the hemoglobin. Hemoglobin is made up of four proteinsubunits which are the alpha-globin and beta-globin. The making ofthe beta globin subunit receives instructions from a specific genecalled the HBB gene (Hemoglobin, Beta) through its mutations. Thereare different versions of the beta-globin subunit that can resultfrom the mutations of the HBB gene. Research has indicated thatduring the mutation process of the HBB gene, an abnormal version ofbeta-globin known as the Hemoglobin S (HbS) is produced (Tapper,2009). This is the abnormal hemoglobin that is associated with sicklecell disease. For a person to suffer from sickle cell disease, one ofthe subunits of beta-globin in hemoglobin is replaced by theabnormally shaped hemoglobin S. It is also essential to mention thatin sickle cell anemia, both the subunits of the beta-globin inhemoglobin are replaced by Hemoglobin S.

The abnormal versions of the beta-globin can make the red bloodcells to lose their normal shape. They acquire sickle or crescentshapes and can stick on the walls of the blood vessels hence blockingthe flow of the blood to some vital organs such as the heart. Thesered blood cells are said to die prematurely and can therefore causeanemia (Tapper, 2009).

Risk factors of sickle cell disease

For a person to contract the disease, he must be born ofparents carrying a sickle cell gene. If one parent has a sickle cellgene and the other is has normal genes, the child will only becarrier. He or she will be referred to us having a sickle cell traitand will not suffer from the disease (Reid et al., 2009). However,such a carrier person can transfer the sickle cell gene to his or herchild. The disease has mainly been associated with people fromAfrica, India and the Mediterranean countries. The disease has alsobeen mainly associated with people from Caribbean Island, as wellNorth and South America. The presence of this disease in theseregions has been associated with the ability of the sickle red bloodcells to resist malaria parasites (Collins, 2010). In America, thedisease has largely been associated with the black community.However, this notion has since changed due to the inter-racialmarriages and numerous cases of the whites suffering from thedisease.

There are various risk factors associated with a child inheritingthe sickle cell disease or the sickle cell trait. Research has shownthat in cases where both parents are suffering from sickle celldisease, the child has 100% risk of contracting the disease. It hasalso been found out that if one parent has sickle cell disease andthe other parent has normal hemoglobin genes, the child has a 100%risk of contracting sickle cell trait. However, such a child is notat risk of contracting the disease. Additionally, research has foundout that in instances where one parent has sickle cell disease andthe other has sickle cell trait, the child has a 50% risk ofcontracting the disease and a 50% risk of contracting the sickle celltrait (Milner et al., 2014). Lastly, medical research has also foundout that in instances where one parent has sickle cell trait and theother parent has normal genes, the child has a 50% risk ofcontracting the trait. In the same case, the child has a 50% risk ofdeveloping normal genes. It is worth noting that in such instances,the child is not at any risk of contracting the sickle cell disease.

Symptoms of sickle cell disease

Whereas the disease is present at birth, research has shown thatnumerous children do not exhibit any signs until they are 4 yearsold. It is evident that the symptoms of the disease may varyaccording to the individual. In some people, the symptoms have beenidentified as being mild while in other people they are severe andrequire hospitalization (Martin et al., 2007). The symptoms of sicklecell disease are linked to those of anemia. Anemia is caused by lowernumber of red blood cells which are tasked with the transportation ofoxygen. This condition bring about fatigue and tiredness to thevictims (Milner et al., 2014). Severe anemia has caused damages tothe heart, brain, kidneys and the lungs. Persistent and long lastinganemia can cause death. The primary symptom of sickle cell disease isthe chronic pain. However, it has also been found out that there arecertain sudden pains that occur in any part of the body. These painsare largely known as the sickle cell crisis and they mainly affectthe bones, abdomen, joints and the lungs.

Besides the chronic pain associated with SCD, there are othersymptoms that can indicate the presence of the disease. Jaundice orthe yellow color on the skin and the eyes is a primary symptom of thedisease. It is also evident that the disease causes the hands and thefeet to swell hence the swelling is one of the major symptoms of thedisease. Other symptoms of the disease include headache, swelling ofthe abdomen, fever, trouble hearing and seeing, as well as breathingand sudden tiredness and lack of interest in any activities going onin the surrounding. The shortness of breath is a primary sign ofanemia (Milner et al., 2014). Dizziness is also a primary symptom ofthe disease. Recent medical studies have also established thatpersistent erection is a symptom of sickle cell disease.Additionally, it is also prudent to seek for medical attention if onefeel weak on one side of the body or a sudden change in speech. Theseare symptoms of sickle cell disease. It is advisable that parentsshould seek immediate medical attention if any one of the abovesymptoms are seen in their child. Adults and adolescents should alsobe on the lookout for these symptoms. It is prudent to immediatelyseek medical attention through visiting your doctor to be tested forsickle cell disease. The earlier the diagnosis and detection thebetter.

Diagnosis and test of sickle cell disease

Medical researchers have pointed that early diagnosis of sickle celldisease is extremely important. Early detections of the disease canbe subjected to medication and severe complications of the diseasecan be avoided. The diagnosis of the disease is carried out throughsimple blood tests which detect the presence of the Hemoglobin S.that causes the disease. The blood test can detect either the diseaseor the trait (Milner et al., 2014). In the United States, the federaland the state governments have a legislation that requires a test ofthe disease for every newborn child. The test for the disease or thetrait is carried out immediately after birth as the child gets testedfor other diseases. If the hemoglobin S. is detected, the diagnosisis repeated to confirm the presence of the abnormal genes.Advancements in medical technology has also enabled medicalpractitioners to carry out the tests before the child is born. Thisis done through testing the amniotic fluid in the first weeks ofpregnancy.

In instances where a person has a history or ethnic background ofsickle cell disease, it is prudent to go for checkup. A blood sampleis removed and tested for the presence of sickle shaped blood cells.The blood sampled is typically smeared on a glass and observed with ahigh resolution microscope. It is prudent to have your partnerchecked before having a child. This will help you know whether yourchild will have the disease or the trait. The center for diseasecontrol in the USA encourages people to be tested and have theirchildren tested for the disease. As it was stated earlier, earlydiagnosis of the diseases is extremely vital (Milner et al., 2014).Children who are diagnosed with the disease at birth are subjected tomedication at an early age and this helps to avoid complications inthe future. It is also evident that early detection and thesubsequent medication prolongs life for the patients.

Treatment for sickle cell disease

is not a curable disease and doctors treat thedisease only to relieve symptoms and avoid future complications. Thetreatment of the disease encompasses the prevention of the chronicpain or relieving patients of the pain. The treatment also seeks toprevent additional infections, damage to the various organs such asthe heart and lungs, as well as strokes. In addition, treatment forsickle cell disease involves control of the complications associatedwith the disease and the treatment for anemia (In Greer, 2014). Thereare some clinicians and doctors who specialize in the treatment ofpeople with sickle cell disease. For instance, hematologists aremedical specialists who focus on the treatment of children and adultssuffering from blood diseases and disorders.

Pain is normally treated depending on the basis of whether it ismild or severe. It is recommended that the mild pain be treated withover the counter medicine and the use of heating pads. The pain ismainly controlled through the use of medicines and pain relievingmedicines. Fluids are vital for reducing dehydration. Severe painshould be treated in hospital. The use of fluids and medicines isusually used to treat acute and short term pains. The fluids can beadministered through the mouth or through the veins. The most commonmedicine for relieving pain in sickle cell disease are the narcotics.However, acetaminophen, nonsteroidal anti-inflammatory drugs (NSAIDs)are also used to treat pain crises. Moderate pain is mainly treatedwith NSAIDs but narcotics may be used if the pain persists. Medicshave also stated that the medicines can be used together to relievethe pain. People suffering from severe sickle cell anemia may requirehydroxyurea which prevents the sudden and severe pains. It isnoteworthy to state that these medicine does not treat the pain, butrather prevents it from occurring. The medicine reduces the number ofpainful crisis in sickle cell disease patients.

It is prudent to prevent various infections that might be associatedwith sickle cell disease. Such infections may include fever andpneumonia. It is essential for children suffering from the disease tobe treated immediately if they develop symptoms of the disease suchas fever or difficulty in breathing. Doses of penicillin daily areessential in children up to age five to prevent bacterial infections.It is also prudent to subject children to the routine vaccinationssuch as flu vaccinations and the vaccination for streptococcuspneumonia (In Greer, 2014). Additionally, adults with sickle celldisease should also receive flu shots every year and a vaccinationfor pneumococcal infections. Children and adults with sickle celldisease are at a high risk of getting infections. It is, therefore,essential for them to be examined regularly for infections such asfever and bone infections. This is vital since early diagnosisresults in better results.

Complications in sickle cell disease are extremely common. Theyinclude gallstones, stroke, pulmonary hypertension, leg ulcers andlung crises. It is essential to prevent these complications forpatients who seek treatment. Blood transfusion has been one of themost reliable methods of treating the worst conditions of complicatedcases of sickle cell disease. Worsening anemia conditions may requirethe use of blood transfusion occasionally (In Greer, 2014). These mayinclude complications such as stroke and lung crises. Bloodtransfusion helps increase the number of healthy and normal red bloodcells in the body hence reducing the symptoms significantly.Hydroxyurea has largely been used as a method of reducing pain crisesand therefore reducing blood transfusions.

Homecare givers have recommended massage on the joints and bodyparts that have severe pain. This relaxes and strengthens the musclesand reduces the pain significantly. It is also recommended thatpatients receive counseling and be engaged in various activitieswhich takes their mind away from the pain (Jones, 2008). Suchactivities may include watching the television or playing computergames. It is prudent to have a supportive family and friends who willhelp in dealing with the pain. Participating in the treatment processis also extremely vital.

Prevention and lifestyle changes

According to medical research, there is no known prevention forsickle cell disease or for the complications associated with thedisease. This is mainly so because the disease is hereditary and doesnot occur due to behavior changes. It is, however, prudent to notethat with precautions and proper management of the disease’sproblems, it is possible to have a quality and prolonged life.Smoking has been pointed out as one of the factors that increases thechances of acute chest syndrome in patients with sickle cell disease.It is therefore prudent to avoid smoking or exposure to second handsmoking. Patients are also advised to avoid hard jobs that mightincrease the demand for oxygen in the body (Hurtig &amp Viera,2008). Physical examinations, as well as eye examinations areextremely vital and helpful in detecting early symptoms of thedisease. It is also advisable that people suffering from sickle celldisease should avoid high altitudes that may increase the demand foroxygen (Konotey-Ahulu &amp ICVS, 2009). Exercises are also vital butshould not be too extreme. Patients are also advised to reduce stressand avoid drinking alcohol.

The prevention of infections is also extremely important.Vaccinations are essential for people with sickle cell disease.Children must also be subjected to all the necessary routinevaccinations against various infections. Pneumococcal vaccines andflu shots are two most vital vaccinations against infections thatpatients of sickle cell disease must be vaccinated with (CDC, 2014).Antibiotics are also essential for children below the age of five forpreventing pneumonia. There are also some dietary requirements thatare extremely vital in dealing with the disease. Fluids are essentialfor reducing dehydration in the body. Omega three fatty acids in fishhave been said to enhance the strength cell membranes hence reducingthe chances or sickled cells.

Recent developments

The medical research to find a cure for this disease is ongoing.There have been various developments and medical researchers arehopeful that a cure will finally be found for the disease. It isevident that this is a disease which has been in existence for a longtime and has caused immense suffering both to the victims and theirfamilies (Schrier, 2007). The researches being conducted seeks tocome up with better treatments for the disease than the ones thatexist.

Bone marrow transplant has been one of the primary developments inthe study of the treatment measures for the disease. This is the onlyfor the disease that has been identified and proven scientifically.There have been extremely few cases of bone marrow transplants in theworld. This is because patients must find people with similar geneticcomposition who can transfer the bone marrow to them (Rao, 2013).There are very slim chances of finding such a person. The few bonemarrow transplants have involved relatives with similar geneticcomposition. The patient must also find a donor who is willing todonate the bone marrow and be of the same genetic composition as thepatient. The procedure for bone marrow transplant is extremely riskyand decisions to carry out the procedure are done on a case to casebasis (Schubert, 2013). It is worth noting that a majority of thebone marrow transplants have been carried out in children with severesickle cell disease. This procedure has not been widely used to treatthe disease due to the risks involved. The researchers have continuedto look for ways of reducing the dangers of this procedure, as wellas enhance its wider usage or application in a majority of sicklecell disease cases.

Gene therapy is also a new development in the field of sickle celldisease. Researchers have been working tirelessly to find out thepossibility of treating sickle cell disease through gene therapy.Researchers are working hard to determine the possibility ofintroducing a normal gene in the bone marrow of a person sufferingfrom sickle cell disease (Brown, 2009). According to the researchers,such an introduction would enable the body to produce normal bloodcells. Additionally, the researchers are also trying to find outwhether they can turn off the genes for the sickled cells and turn onthe genes that make red blood cells behave in a normal way.

Lastly, medical researchers are also busy researching on newmedicines that will offer the much needed treatment for sickle celldisease. To start with, the researchers are looking at thepossibility of providing medicine that will prevent the cells fromsticking on the walls of the blood vessels (Topley, 2011). This willreduce the blockage of the blood vessels and therefore enable thesmooth flow and transportation of blood to the essential organs suchas the lungs and the heart. Researchers are also looking at thepossibility of stopping the sickling of the hemoglobin in red bloodcells. It is also evident that there is an ongoing research whichaims at developing ways of increasing the number of hemoglobin beforebirth (Koshy et al., 2009). These are all developments that are aimedat ensuring that a cure for the disease has been found.

Conclusion

is one of the most common hereditarydisease across the world. There are over 200,000 people living withthe disease in the United States. Although the disease has beenassociated with people African, India and the Mediterraneancountries, research has indicated that the disease can affect anybodyacross the world. The numerous cases recorded in the United Statesare both for African Americans and white people (Plasmar, 2011). Itis, however, evident that the disease is mostly common in malariaprune areas. The disease cause undue and severe pain to the victims.This is not only the form of pain. There are other forms which arethe psychological pain, social pain and the economic pain. People whoare suffering from sickle cell disease are considered as outcasts ina majority of African and Indian cultures and the disease is viewedas a curse (Brown, 2009). Victims are in many instances physicallyincapacitated and cannot participate in income generating activities.They therefore face a huge financial burden. Additionally, as thisresearch has indicated, the cost of seeking treatment for the diseaseis tremendous. Parents and families of patients of the disease findit extremely difficult in catering for the financial needs of thepatients.

The disease has been associated with sickle cell crisis or painwhich occurs mainly on the joints. Patients also develop fever anddifficulties in breathing. Any symptoms associated with anemia shouldbe reported to a doctor immediately. Doctors and health organizationshave recommended that the best prevention or control for thedisease’s symptoms is vaccination against various infections suchas fever and other bone infections (Harris, 2010). Young childrenmust be vaccinated at birth and must be subjected to subsequentvaccinations and immunizations. There is no treatment for thisdisease. However, the treatments available for sickle cell diseaseare aimed at reducing the pain and other symptoms. There are variousmedicines and lifestyle changes that can help reduce the effects ofthis disease (Wood &amp Philips, 2003). Taking enormous fluids andavoiding smoking and alcoholism are just a few lifestyle changesrecommended by medics.

Although there is no treatment for the disease, it is vital toensure that there is early diagnosis and testing. This enables earlymedication which helps to avoid future complications and sickle cellcrisis. It is also essential to have frequent physical check-ups forthe disease. Despite there not being any cure for the disease, it isclear from research that there are numerous developments going onwith regard to the disease’s treatment (Falvo, 2014). Bone marrowtransplant and gene therapy are two major developments that have beengoing on in the recent past. Bone marrow transplant is the only knowncure for the disease. It is, however, not widely used because of thevarious risks associated with it.

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