Sickle Cell Disease

SICKLE CELL DISEASE 5

SickleCell Disease

SickleCell Disease

Abstract

Sicklecell disease is a hereditary human disorder of the blood that arisesfrom the mutated gene, thus resulting to the production ofsickle-shaped. These sickle-shaped cells are hard and sticky, thustransport fewer amounts of oxygen. They get stuck in small bloodvessels, leading to periods of acute pains, stroke, organ failures,acute chest syndrome, and hand-and-foot syndrome among others. Thetreatment methodologies for SCD include IV therapy, increasing fluidintake or blood transfusion. Alternatively, the SCD can be treatedthrough hematopoieticstem cell transplant but only in cases ofsevere SCD.

Keywords: SickleCell Disease, Hemoglobin, treatment

Thehuman sickle cell disease is a disorder in the blood that arises frommutation in a gene encoding one of the subunits of hemoglobin, makingthem hard and sticky (Rees,Williams &amp Gladwin, 2010).Instead of the round-shape hemoglobin, the SCD patients have C-shapehemoglobin, which resembles a sickle, thus the name sickle celldisease. The sickle cells die prematurely leading to constant bloodshortage among SCD patients. Moreover, the sickle shape interfereswith the levels of oxygen that can be transported by blood leading toshortage of oxygen in vital organs. The sickle-shape and thestickiness of the cells leading to the vaso-occlusive crisis. Thisleads to severe pain, serious infections, organ failure or damage,Anaemia and Cerebral vasculopathy (CDC, 2016). This paper exploresthe sickle cell disease, giving problems that are associated with thedisease as well as the likely treatment methodologies.

SCDis hereditary, thus passed from one generation to the successive onesthrough a process known as theautosomal recessive inheritance. Inthis case, both parents have to pass on the defective gene to thechild for it to be infected. With the sickle cell trait, theindividual will have one defectiveand one normal hemoglobin making gene(Stuart&ampNagel, 2004). Though the blood will have sickle cells, such anindividual will not experience symptoms of sickle cell disease.However, they will be carrier of the disease, meaning that the sicklecell gene can be passed to their successive generation (CDC,2016).

Themain goal of treating SCD is to relieve the periods of pain, preventinfections, strokes and organ damage associated with the disease. Some of the commonly used strategies for relieving pain andpreventing or curing SCD related complexities include bloodtransfusion, intravenous (IV) therapy and fluid uptake. Bloodtransfusion involves draining the blood of SCD patient and replacingit with blood that has no sickle cells. This treatment strategy isshort-lived as the newly introduced blood gets infected with sicklecells manufactured in the stem cell. Additionally, patients receivingregular blood transfusions are likely to develop graft-versus-hostdisease (GVHD).The IV therapy involves administering fluids into thevein to enhance blood flow. Additionally, SCD patients are encouragedto take huge amounts of fluids to enhance the flow of blood in bloodvessels (Rees,Williams&amp Gladwin, 2010). Patients are also encouraged to use ibuprofen to relieve pain, or hydroxyurea and opioids for the case of severe bouts of pain (CDC,2016). Hydroxyurea reduces the rate of mutated hemoglobin ininfants, thus reducing the formation of sickle cells (Stuart&ampNagel, 2004).

Asnoted, the above strategies are only helpful in reducing SCD relatedpain episodes and preventing complexities that arise from SCD, butnot treating the disease. The only sure way of treating SCD is thehematopoieticstem cell transplant (HCST). In this process, bonemarrow or stem cell transplant. In this treatment strategy, healthystem cells are taken from a donor who has no history of SCD and putto into SCD patients. The healthy stem cell causes the bone marrow ofthe SCD patient to make healthy cells, thus ridding the patient offSCD. HCST has a 85% success rate but the process is significantlyhurdled the smaller number of matching donors which is less than 20%,which makes the process highly risky (CDC, 2016). Additionally, theprocess presents a risk of infertility and other transplant relatedmortality. These increased challenges present the need for Genetherapy as an alternative treatment method. Gene therapy involves thetreating the sickle cells using antisickling globulin gene usingHIV-1 based entivirus vectors. More research should be donepertinent to the gene therapy treatment methodsince is seems tobe more promising than other treatment methods as it is designedto repair the root problem of genetic mutation (CDC, 2016).

Inretrospection, the SCD is a blood disorder arising from a mutation ina gene that produces hemoglobin. The mutation leads to the productionof sickle shaped hemoglobin rather than the normal round-shaped cellsleading to numerous health challenges. The level of oxygen in bloodreduces and the cells stick to small blood vessels, thus threateningthe supply of oxygen and blood to vital organs. Additionally, thesickle cells die prematurely leading to constant blood shortage amongSCD patients. These conditions lead to numerous challenges among themperiods of pain, ACS, stroke, hand-and-foot syndrome among others.Normally, treating SCD involves relieving pain and preventing theoccurrence of different diseases associated with the disease, thusthe most common treatment methods include IV therapy, bloodtransfusion, increased fluid uptake and medications. The only methodthat cures SCD is the stem cell or bone marrow transplant, where thebone marrow of a SCD patient is replaced with bone marrow from ahealthy individual. However, the bone marrow treatment procedure isrisky and may lead to death thus the need for alternative therapysuch as gene therapy for effective treatment.

References

Centersfor Disease Control and Prevention (CDC), (2016). WhatYou Should Know About .Retrieved from http://www.cdc.gov/ncbddd/sicklecell/documents/scd-factsheet_what-is-scd.pdf

Fixler,J., &amp Styles, L. (2002). Sickle cell disease. PediatricClinics,Vol.49(6),1193-1210.

NationalInstitute of health, NATIONAL HEART, LUNG, AND BLOOD INSTITUTE(NHLBI) (2016). Themanagement of sickle cell disease.Retrieved from https://www.nhlbi.nih.gov/files/docs/guidelines/sc_mngt.pdf

Rees,D. C., Williams, T. N., &amp Gladwin, M. T. (2010). Sickle-celldisease. TheLancet,Vol. 376(9757),2018-2031.

Stuart,M. J., &amp Nagel, R. L. (2004). Sickle-cell disease. TheLancet,Vol. 364(9442),1343-1360.