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Maedbh​ ​Lillis 

CHEM​ ​349 

Case​ ​Study​ ​#5​ ​Report​ ​-​ ​Sickle​ ​Cell​ ​Anemia 

ABSTRACT  

This​ ​paper​ ​explores​ ​the​ ​biochemical​ ​processes​ ​driving​ ​sickle​ ​cell​ ​anemia​ ​and​ ​the​ ​medical,​ ​ethical 

and​ ​public​ ​health​ ​implications​ ​of​ ​a​ ​the​ ​sickle​ ​cell​ ​trait.​ ​Due​ ​to​ ​improvements​ ​in​ ​medical 

technology,​ ​sickle​ ​cell​ ​anemia​ ​is​ ​now​ ​viewed​ ​as​ ​manageable​ ​condition​ ​that​ ​does​ ​not​ ​preclude​ ​a 

person​ ​from​ ​leading​ ​a​ ​relatively​ ​normal​ ​life.​ ​Research​ ​has​ ​shown​ ​that​ ​taking​ ​prescribed​ ​opioid 

medications​ ​and​ ​regularly​ ​consulting​ ​a​ ​with​ ​medical​ ​professional​ ​prevent​ ​the​ ​occurrence​ ​of​ ​acute 

and​ ​life-threatening​ ​compilations​ ​such​ ​as​ ​stroke​ ​and​ ​acute​ ​respiratory​ ​syndrome. 

INTRODUCTION 

Sickle​ ​cell​ ​anemia​ ​is​ ​one​ ​of​ ​the​ ​most​ ​common​ ​monogenic​ ​blood​ ​disorders​ ​in​ ​the​ ​world, 

with​ ​approximately​ ​100,000​ ​Americans​ ​living​ ​with​ ​the​ ​disease.​ ​Sickle​ ​cell​ ​disease​ ​is​ ​caused​ ​by​ ​a 

mutation​ ​in​ ​the​ ​hemoglobin-beta​ ​(HBB)​ ​gene​ ​located​ ​on​ ​chromosome​ ​11.​ ​Normal​ ​Red​ ​blood 

cells​ ​with​ ​hemoglobin-alpha​ ​(HBA)​ ​are​ ​round​ ​and​ ​smooth​ ​with​ ​the​ ​ability​ ​to​ ​flow​ ​through​ ​blood 

vessels​ ​easily​ ​and​ ​transport​ ​oxygen​ ​throughout​ ​the​ ​body.​ ​People​ ​with​ ​sickle​ ​cell​ ​disease​ ​have 

abnormal​ ​hemoglobin​ ​molecules​ ​shaped​ ​like​ ​long​ ​rods,​ ​which​ ​causes​ ​the​ ​erythrocytes​ ​to​ ​stiffen 

and​ ​take​ ​on​ ​a​ ​sickle​ ​shape.​ ​The​ ​irregular​ ​shape​ ​of​ ​the​ ​red​ ​blood​ ​cells​ ​causes​ ​them​ ​to​ ​pile​ ​up​ ​in 

the​ ​vessels,​ ​creating​ ​blockages​ ​and​ ​damaging​ ​tissues​ ​and​ ​organs​ ​(Samuel,​ ​1997). 

The​ ​sickle​ ​cell​ ​trait​ ​is​ ​inherited​ ​when​ ​a​ ​person​ ​receives​ ​a​ ​copy​ ​of​ ​the​ ​sickle​ ​cell​ ​trait​ ​from 

each​ ​parent.​ ​A​ ​person​ ​who​ ​only​ ​inherits​ ​one​ ​copy​ ​of​ ​the​ ​altered​ ​gene​ ​is​ ​known​ ​as​ ​a​ ​carrier​ ​and 

usually​ ​does​ ​not​ ​show​ ​clinical​ ​symptoms​ ​of​ ​the​ ​disease.​ ​There​ ​are​ ​approximately​ ​2.5​ ​million 
sickle​ ​cell​ ​trait​ ​carriers​ ​in​ ​the​ ​United​ ​States​ ​(American​ ​Society​ ​of​ ​Hematology,​ ​2017).​ ​Sickle​ ​cell 

disease​ ​destroys​ ​erythrocytes​ ​at​ ​a​ ​rapid​ ​rate,​ ​and​ ​patients​ ​suffer​ ​from​ ​chronic​ ​anemia​ ​(low 

hemoglobin​ ​levels).​ ​Left​ ​untreated,​ ​sickle​ ​cell​ ​disease​ ​can​ ​cause​ ​chronic​ ​pain​ ​and​ ​life-threatening 

complications​ ​secondary​ ​to​ ​major​ ​organ​ ​damage​ ​ ​(American​ ​Society​ ​of​ ​Hematology,​ ​2017). 

What​ ​research​ ​is​ ​being​ ​done​ ​to​ ​better​ ​understand​ ​the​ ​sickle​ ​cell​ ​trait? 

Sickle​ ​cell​ ​disease​ ​has​ ​a​ ​highly​ ​variable​ ​clinical​ ​presentation​ ​-​ ​some​ ​patients​ ​live 

relatively​ ​normal​ ​lives​ ​with​ ​mild​ ​symptoms​ ​while​ ​others​ ​suffer​ ​from​ ​markedly​ ​shorter​ ​lifespans 

due​ ​to​ ​severe​ ​complications​ ​(American​ ​Society​ ​of​ ​Hematology,​ ​2017).​ ​Research​ ​suggests​ ​that​ ​a 

person’s​ ​genetic​ ​information​ ​alone​ ​cannot​ ​predict​ ​the​ ​severity​ ​or​ ​course​ ​of​ ​their​ ​illness. 

CASE​ ​STUDY 

In​ ​the​ ​original​ ​case​ ​report,​ ​the​ ​patient​ ​was​ ​a​ ​25​ ​year​ ​old​ ​African​ ​American​ ​male​ ​with 

sickle​ ​cell​ ​anemia​ ​who​ ​had​ ​a​ ​history​ ​of​ ​vaso-occlusive​ ​crises.​ ​ ​A​ ​vaso-occlusive​ ​crisis​ ​is​ ​a 

painful​ ​complication​ ​of​ ​sickle​ ​cell​ ​anemia​ ​where​ ​the​ ​sickled​ ​erythrocytes​ ​obstruct​ ​the​ ​circulation 

of​ ​blood​ ​vessels,​ ​causing​ ​ischemic​ ​(circulatory)​ ​issues.​ ​The​ ​patient​ ​reported​ ​good​ ​health​ ​ ​for​ ​the 

past​ ​several​ ​years​ ​and​ ​was​ ​prescribed​ ​oral​ ​analgesic​ ​for​ ​pain.​ ​He​ ​was​ ​admitted​ ​to​ ​the​ ​emergency 

room​ ​after​ ​4-5​ ​days​ ​of​ ​back​ ​and​ ​flank​ ​pain​ ​that​ ​had​ ​gradually​ ​increased​ ​in​ ​severity.​ ​The​ ​patient 

was​ ​afebrile​ ​and​ ​was​ ​treated​ ​with​ ​IV​ ​fluids​ ​and​ ​analgesics.​ ​His​ ​serum​ ​bilirubin​ ​value​ ​was​ ​5.1 

mg/dl​ ​(normal​ ​range​ ​is​ ​0.3-1.2​ ​mg/dl),​ ​the​ ​white​ ​blood​ ​cell​ ​was​ ​count​ ​18,000/mm^3 

(2,400-10,800/mm^3​ ​is​ ​the​ ​normal​ ​range),​ ​and​ ​the​ ​hematocrit​ ​(the​ ​ratio​ ​of​ ​RBC​ ​volume​ ​to​ ​total 

blood​ ​volume)​​ ​was​ ​37%​ ​(37.2-50.2%​ ​is​ ​the​ ​norm)​ ​(Samuel,​ ​1997). 

After​ ​being​ ​discharged​ ​with​ ​an​ ​oxymorphone​ ​prescription,​ ​the​ ​patient​ ​returned​ ​to​ ​the 

emergency​ ​room​ ​a​ ​few​ ​days​ ​later​ ​complaining​ ​of​ ​severe​ ​generalized​ ​pain,​ ​fever,​ ​and​ ​sweats.​ ​He 
was​ ​found​ ​to​ ​have​ ​pleuritic​ ​chest​ ​pain​ ​and​ ​mild​ ​dyspnea​ ​along​ ​with​ ​a​ ​temperature​ ​of​ ​100.9F​ ​and 

jaundice.​ ​The​ ​physical​ ​exam​ ​revealed​ ​rales​ ​(rattling​ ​sounds)​ ​heard​ ​in​ ​lungs​ ​upon​ ​auscultation​ ​and 

The​ ​leukocyte​ ​count​ ​had​ ​risen​ ​to​ ​26,000/mm​3​ ​with​ ​a​ ​serum​ ​bilirubin​ ​of​ ​ ​9.1​ ​mg/dl.​ ​The​ ​chest 

x-ray​ ​displayed​ ​showed​ ​a​ ​slightly​ ​enlarged​ ​heart​ ​with​ ​fluid​ ​in​ ​the​ ​right​ ​minor​ ​fissure​ ​in​ ​the​ ​lung, 

which​ ​are​ ​findings​ ​consistent​ ​with​ ​pleural​ ​effusion.​ ​The​ ​electrocardiogram​ ​showed​ ​sinus 

tachycardia​ ​with​ ​left​ ​ventricular​ ​enlargement. 

The​ ​patient’s​ ​blood,​ ​throat,​ ​and​ ​urine​ ​cultures​ ​were​ ​collected​ ​for​ ​further​ ​lab​ ​analysis. 

Initial​ ​treatment​ ​included​ ​cefotaxime​ ​(an​ ​antibiotic),​ ​meperidine​ ​(a​ ​narcotic​ ​analgesic),​ ​and​ ​40 

percent​ ​oxygen​ ​by​ ​facemask​ ​(Samuel,​ ​1997).​ ​ ​Within​ ​twelve​ ​hours,​ ​the​ ​patient’s​ ​fever​ ​had​ ​risen 

to​ ​102.7F​ ​and​ ​he​ ​had​ ​become​ ​tachypneic​ ​with​ ​a​ ​respiratory​ ​rate​ ​of​ ​40​ ​breaths​ ​per​ ​minute.​ ​An 

arterial​ ​blood​ ​gas​ ​sample​ ​showed​ ​a​ ​PO​2​​ ​(partial​ ​pressure​ ​of​ ​oxygen)​ ​of​ ​41​ ​torr​ ​(>79​ ​torr​ ​is 

normal)​ ​despite​ ​the​ ​supplemental​ ​oxygen​ ​administration,​ ​which​ ​was​ ​then​ ​increased​ ​to​ ​100%.​ ​The 

patient​ ​was​ ​transferred​ ​to​ ​the​ ​intensive​ ​care​ ​unit​ ​while​ ​the​ ​lab​ ​results​ ​came​ ​through.  

Gram​ ​stains​ ​of​ ​the​ ​pleural​ ​fluid​ ​and​ ​sputum​ ​was​ ​negative​ ​for​ ​Legionella​ ​organisms. 

Pneumonia​ ​could​ ​not​ ​be​ ​completely​ ​ruled​ ​out​ ​at​ ​this​ ​stage,​ ​so​ ​the​ ​antibiotics​ ​were​ ​switched​ ​to 

ampicillin,​ ​gentamicin,​ ​and​ ​trimethoprim-sulfamethoxazole.​ ​The​ ​patient’s​ ​condition​ ​continued​ ​to 

worsen​ ​over​ ​the​ ​next​ ​several​ ​days,​ ​with​ ​a​ ​constant​ ​fever​ ​and​ ​a​ ​leukocyte​ ​count​ ​that​ ​had​ ​now​ ​risen 

to​ ​46,000/mm​^3​.​ ​An​ ​endotracheal​ ​tube​ ​was​ ​inserted​ ​after​ ​four​ ​days​ ​when​ ​the​ ​partial​ ​pressure​ ​of 

oxygen​ ​would​ ​not​ ​rise​ ​above​ ​50​ ​torr.​ ​The​ ​patient​ ​was​ ​given​ ​an​ ​exchange​ ​transfusion​ ​of​ ​5​ ​units​ ​of 

packed​ ​erythrocytes,​ ​which​ ​raised​ ​his​ ​hemoglobin​ ​to​ ​70%.​ ​Throughout​ ​his​ ​hospital​ ​stay,​ ​the 

patient​ ​received​ ​transfusions​ ​as​ ​necessary​ ​to​ ​maintain​ ​his​ ​hematocrit​ ​above​ ​70%​ ​(Samuel,​ ​1997). 
After​ ​nine​ ​days​ ​in​ ​the​ ​ICU,​ ​the​ ​patient’s​ ​temperature​ ​returned​ ​to​ ​normal​ ​and​ ​his 

endotracheal​ ​tube​ ​was​ ​removed​ ​after​ ​taking​ ​him​ ​off​ ​the​ ​ventilator.​ ​Lab​ ​cultures​ ​failed​ ​to​ ​provide 

any​ ​evidence​ ​of​ ​an​ ​infectious​ ​cause​ ​of​ ​illness.​ ​The​ ​antibiotics​ ​were​ ​discontinued​ ​and​ ​he​ ​was 

transferred​ ​to​ ​a​ ​general​ ​medical​ ​ward​ ​for​ ​another​ ​nine​ ​days​ ​for​ ​furthering​ ​monitoring.​ ​The 

patient​ ​spent​ ​a​ ​total​ ​of​ ​22​ ​days​ ​in​ ​the​ ​hospital​ ​and​ ​the​ ​x-ray​ ​taken​ ​on​ ​day​ ​of​ ​discharge​ ​showed​ ​no 

effusions.​ ​The​ ​discharge​ ​diagnosis​ ​was​ ​adult​ ​respiratory​ ​distress​ ​syndrome​ ​complicating​ ​sickle 

cell​ ​vaso​ ​occlusive​ ​crisis. 

DIAGNOSIS​ ​OF​ ​SICKLE​ ​CELL​ ​DISEASE 

A​ ​routine​ ​blood​ ​test​ ​can​ ​be​ ​given​ ​to​ ​check​ ​for​ ​hemoglobin​ ​S,​ ​which​ ​is​ ​usually​ ​done​ ​in​ ​an 

initial​ ​screening​ ​of​ ​a​ ​newborn​ ​at​ ​a​ ​hospital.​ ​In​ ​adults,​ ​a​ ​diagnosis​ ​is​ ​made​ ​by​ ​electrophoretic 

analysis​ ​of​ ​lysed​ ​red​ ​blood​ ​cells​ ​drawn​ ​from​ ​the​ ​arm.​ ​The​ ​sickle​ ​cell​ ​mutation​ ​causes​ ​the 

hemoglobin​ ​tetramer​ ​to​ ​lose​ ​two​ ​negative​ ​charges​ ​at​ ​pH​ ​8.6​ ​because​ ​the​ ​glutamic​ ​acid​ ​side​ ​chain 

is​ ​negatively​ ​charged​ ​in​ ​this​ ​environment​ ​(Samuel,​ ​1997).​ ​Consequently,​ ​the​ ​hemoglobin​ ​A 

moves​ ​more​ ​rapidly​ ​towards​ ​the​ ​positive​ ​anode​ ​than​ ​hemoglobin​ ​S​ ​at​ ​pH​ ​8.6​ ​on​ ​cellulose 

acetate.  

BIOCHEMICAL​ ​PATHWAYS​ ​OF​ ​SCA  

A​ ​vaso​ ​occlusive​ ​crisis​ ​is​ ​one​ ​of​ ​the​ ​hallmark​ ​symptoms​ ​of​ ​sickle​ ​cell​ ​disease​ ​that​ ​can​ ​be 

triggered​ ​by​ ​dehydration,​ ​fever,​ ​hypothermia,​ ​or​ ​stress.​ ​Activated​ ​mast​ ​cells​ ​release​ ​neuropeptide 

substance​ ​P​ ​and​ ​other​ ​mediators​ ​in​ ​the​ ​skin​ ​to​ ​sensitize​ ​peripheral​ ​pain​ ​receptors.​ ​Pain​ ​signals 

travel​ ​from​ ​the​ ​periphery​ ​through​ ​the​ ​spinal​ ​cord​ ​to​ ​the​ ​brain.​ ​Sustained​ ​sensitization​ ​leads​ ​to 

antidromic​ ​release​ ​of​ ​neuropeptides​ ​and​ ​pain​ ​mediators​ ​in​ ​the​ ​periphery,​ ​which​ ​causes​ ​pain​ ​to​ ​be 
felt​ ​without​ ​a​ ​harmful​ ​stimulus​ ​(Aich,​ ​2016).​ ​The​ ​result​ ​is​ ​a​ ​cyclic​ ​feed-forward​ ​pathway​ ​of 

peripheral​ ​and​ ​CNS​ ​sensitization​ ​that​ ​accounts​ ​for​ ​the​ ​chronic​ ​pain​ ​found​ ​in​ ​sickle​ ​cell​ ​patients. 

 

TREATMENT 

Vasoocclusive​ ​crises​ ​are​ ​treated​ ​with​ ​hydration​ ​and​ ​analgesics.​ ​Pain​ ​control​ ​is​ ​best 

achieved​ ​with​ ​opioids​ ​and​ ​opiate​ ​derivatives.​ ​Infection​ ​prevention​ ​also​ ​aids​ ​a​ ​patient’s​ ​chances 

of​ ​survival,​ ​which​ ​explains​ ​the​ ​use​ ​of​ ​antibiotics​ ​in​ ​the​ ​case​ ​study.​ ​An​ ​allogeneic​ ​bone​ ​marrow 

transplant​ ​can​ ​help​ ​a​ ​sickle​ ​cell​ ​patient’s​ ​body​ ​produce​ ​normal​ ​hemoglobin​ ​-​ ​the​ ​benefits​ ​may 

outweigh​ ​the​ ​risks​ ​if​ ​the​ ​patient’s​ ​condition​ ​is​ ​severe.​ ​The​ ​case​ ​study​ ​patient’s​ ​worsening 

condition​ ​in​ ​the​ ​ICU​ ​may​ ​have​ ​warranted​ ​a​ ​bone​ ​marrow​ ​transplant​ ​if​ ​his​ ​condition​ ​had 

continued​ ​to​ ​deteriorate. 
PATIENT​ ​OUTCOMES 

Sickle​ ​cell​ ​patients​ ​can​ ​live​ ​normal​ ​lives​ ​-​ ​average​ ​life​ ​expectancies​ ​currently​ ​average 

about​ ​60​ ​years​ ​for​ ​men​ ​and​ ​68​ ​for​ ​women.​ ​As​ ​with​ ​all​ ​people,​ ​a​ ​healthy​ ​diet,​ ​regular​ ​physical 

activity,​ ​and​ ​good​ ​sleeping​ ​habits​ ​will​ ​improve​ ​quality​ ​of​ ​life.​ ​People​ ​with​ ​sickle​ ​cell​ ​disease​ ​are 

prone​ ​to​ ​tiring​ ​more​ ​quickly​ ​than​ ​usual,​ ​so​ ​they​ ​must​ ​take​ ​care​ ​to​ ​avoid​ ​overexertion​ ​and 

excessive​ ​stress.​ ​Circumstances​ ​that​ ​may​ ​trigger​ ​a​ ​vasoocclusive​ ​crisis​ ​include​ ​extreme​ ​heat​ ​or 

cold,​ ​dehydration,​ ​and​ ​unpressurized​ ​cabins​ ​in​ ​airplanes.​ ​(American​ ​Society​ ​of​ ​Hematology. 

2017).​ ​Taking​ ​medications​ ​as​ ​prescribed​ ​and​ ​keeping​ ​regular​ ​doctor​ ​appointments​ ​decrease​ ​the 

incidence​ ​of​ ​acute​ ​problems. 

SCREENING​ ​AND​ ​ETHICAL​ ​CONCERNS 

Infants​ ​can​ ​be​ ​screened​ ​for​ ​sickle​ ​cell​ ​disease​ ​before​ ​they​ ​are​ ​born​ ​via​ ​amniocentesis.​ ​The 

decision​ ​to​ ​terminate​ ​a​ ​pregnancy​ ​depends​ ​on​ ​a​ ​variety​ ​of​ ​personal​ ​and​ ​cultural​ ​considerations​ ​as 

well​ ​have​ ​the​ ​health​ ​of​ ​the​ ​mother.​ ​Outcome​ ​for​ ​people​ ​living​ ​with​ ​sickle​ ​cell​ ​disease​ ​are 

exponentially​ ​better​ ​than​ ​they​ ​they​ ​were​ ​40-50​ ​years​ ​ago,​ ​but​ ​one​ ​must​ ​consider​ ​the​ ​impact​ ​of 

limited​ ​healthcare​ ​resources​ ​in​ ​the​ ​third​ ​world​ ​country.​ ​In​ ​a​ ​country​ ​such​ ​as​ ​Nigeria,​ ​scarcity​ ​of 

resources​ ​and​ ​health​ ​care​ ​rationing​ ​may​ ​be​ ​more​ ​readily​ ​apparent.​ ​Parents​ ​may​ ​find​ ​themselves 

in​ ​the​ ​position​ ​to​ ​decide​ ​if​ ​they​ ​could​ ​live​ ​with​ ​the​ ​consequences​ ​of​ ​a​ ​suffering​ ​child​ ​who​ ​may 

not​ ​ ​be​ ​able​ ​to​ ​get​ ​adequate​ ​treatment.  

In​ ​developed​ ​countries,​ ​a​ ​procedure​ ​called​​ ​preimplantation​ ​genetic​ ​diagnosis​ ​is​ ​intended

to​ ​prevent​ ​certain​ ​genetic​ ​disorder​ ​by​ ​identifying​ ​and​ ​eliminating​ ​embryos​ ​with​ ​genetic​ ​defects.

This​ ​practice​ ​is​ ​filled​ ​with​ ​its​ ​own​ ​moral​ ​pitfalls​ ​related​ ​to​ ​the​ ​destruction​ ​of​ ​embryos​ ​and​ ​the

eugenicist​ ​policies​ ​for​ ​the​ ​“best”​ ​genetic​ ​traits.
The​ ​patient​ ​in​ ​the​ ​case​ ​study​ ​was​ ​treated​ ​according​ ​to​ ​the​ ​standard​ ​of​ ​care​ ​for​ ​a​ ​vaso

occlusive​ ​crisis.​ ​The​ ​incident​ ​appeared​ ​to​ ​be​ ​a​ ​recurring​ ​flare-up​ ​of​ ​a​ ​condition​ ​that​ ​had​ ​affected

him​ ​since​ ​childhood.​ ​The​ ​medical​ ​team​ ​could​ ​not​ ​have​ ​done​ ​anything​ ​differently​ ​other​ ​than

giving​ ​him​ ​a​ ​bone​ ​marrow​ ​transplant​ ​if​ ​appropriate​ ​and​ ​viable.​ ​The​ ​medical​ ​staff​ ​could​ ​have​ ​also

evaluated​ ​the​ ​patient's​ ​lifestyle​ ​and​ ​counseled​ ​him​ ​on​ ​healthy​ ​habits​ ​to​ ​improve-​ ​his​ ​quality​ ​of

life. 

DISCUSSION 

Sickle​ ​cell​ ​anemia​ ​is​ ​increasingly​ ​being​ ​viewed​ ​as​ ​a​ ​chronic​ ​condition​ ​that​ ​can​ ​be 

managed​ ​with​ ​appropriate​ ​medication​ ​and​ ​lifestyle​ ​adjustments.​ ​The​ ​medical​ ​team​ ​left​ ​no​ ​stone 

unturned​ ​in​ ​the​ ​diagnostic​ ​process,​ ​taking​ ​lab​ ​cultures​ ​to​ ​determine​ ​if​ ​pneumonia​ ​could​ ​be​ ​a 

cause​ ​of​ ​the​ ​patient's​ ​pain​ ​and​ ​respiratory​ ​distress.​ ​Antibiotics​ ​were​ ​given​ ​as​ ​curative​ ​measure 

against​ ​further​ ​complications​ ​when​ ​pneumonia​ ​could​ ​not​ ​be​ ​ruled​ ​out.​ ​The​ ​patient’s​ ​condition 

worsened​ ​before​ ​slowly​ ​moving​ ​after​ ​after​ ​a​ ​stint​ ​in​ ​the​ ​intensive​ ​care​ ​unit​ ​that​ ​included​ ​IV 

fluids,​ ​intubation,​ ​antibiotics,​ ​and​ ​pain​ ​medications.​ ​ ​The​ ​cyclic​ ​feed-forward​ ​pain​ ​pathway​ ​that 

causes​ ​suffering​ ​the​ ​sickle​ ​cell​ ​patients​ ​can​ ​be​ ​appropriately​ ​managed​ ​with​ ​medication​ ​and 

hydration. 

 

 

 

 

 

 
References 

​ ​ ​ ​ ​ ​American​ ​Society​ ​of​ ​Hematology.​ ​(2017).​ ​Sickle​ ​Cell​ ​Research​ ​Priorities.​ ​American​ ​Society 

of​ ​Hematology,​ ​Retrieved​ ​From 

http://www.hematology.org/Research/Recommendations/Sickle-Cell/3151.aspx 

   

Anupam​ ​Aich,​ ​Alvin​ ​J​ ​Beitz​ ​and​ ​Kalpna​ ​Gupta​ ​(2016).​ ​Mechanisms​ ​of​ ​Pain​ ​in​ ​Sickle​ ​Cell 

Disease,​ ​Sickle​ ​Cell​ ​Disease​ ​-​ ​Pain​ ​and​ ​Common​ ​Chronic​ ​Complications,​ ​Dr.​ ​Baba​ ​P.D.​ ​Inusa 

(Ed.),​ ​InTech,​ ​DOI:​ ​10.5772/64647.​ ​Available​ ​from: 

https://www.intechopen.com/books/sickle-cell-disease-pain-and-common-chronic-complications

/mechanisms-of-pain-in-sickle-cell-disease 

   

Samuel​ ​Charache.​ ​(1997).​ ​ ​Sickle​ ​Cell​ ​Anemia.​ ​Clinical​ ​Studies​ ​in​ ​Medical​ ​Biochemistry​.​ ​New 

York:​ ​Oxford​ ​university​ ​Press​.​ ​78-90 

 

   
 

Outline: 

 

1. Intro-​ ​sickle​ ​cells  

a. One​ ​of​ ​the​ ​most​ ​common​ ​monogenic​ ​blood​ ​disorders​ ​in​ ​the​ ​world 

i. People​ ​with​ ​sickle​ ​cell​ ​disease​ ​have​ ​abnormal​ ​hemoglobin​ ​molecules 

shaped​ ​like​ ​long​ ​rods 

1. Causes​ ​the​ ​erythrocytes​ ​to​ ​stiffen​ ​and​ ​take​ ​on​ ​a​ ​sickle​ ​shape 

2. Red​ ​blood​ ​cells​ ​causes​ ​them​ ​to​ ​pile​ ​up​ ​in​ ​the​ ​vessels,​ ​creating 

blockages 

ii. The​ ​irregular​ ​shape​ ​of​ ​the​ ​red​ ​blood​ ​cells​ ​causes​ ​a​ ​pile​ ​up​ ​in​ ​the​ ​vessels 

1. This​ ​leads​ ​to​ ​blockages​ ​damaging​ ​tissues​ ​and​ ​organs. 

b. The​ ​sickle​ ​cell​ ​trait​ ​is​ ​inherited​ ​when​ ​a​ ​person​ ​receives​ ​a​ ​copy​ ​of​ ​the​ ​sickle​ ​cell 

trait​ ​from​ ​each​ ​parent 

i. ​ ​A​ ​carrier​ ​usually​ ​does​ ​not​ ​show​ ​clinical​ ​symptoms​ ​of​ ​the​ ​disease. 

1. They​ ​destroy​ ​erythrocytes​ ​at​ ​a​ ​rapid​ ​rate​ ​that​ ​make​ ​patients​ ​suffer 

from​ ​chronic​ ​anemia 

ii. Anything​ ​left​ ​untreated,​ ​can​ ​cause​ ​chronic​ ​pain​ ​and​ ​life-threatening 

complications 

c. Sickle​ ​cell​ ​disease​ ​can​ ​cause​​ ​chronic​ ​pain​ ​and​ ​life-threatening​ ​complications 

d. Some​ ​patients​ ​live​ ​relatively​ ​normal​ ​lives​ ​with​ ​mild​ ​symptoms​ ​while​ ​others​ ​suffer 

from​ ​markedly​ ​shorter​ ​lifespans 
2. Vaso-occlusive​ ​crisis​ ​is​ ​a​ ​painful​ ​complication​ ​of​ ​sickle​ ​cell​ ​anemia  

i. The​ ​sickled​ ​erythrocytes​ ​obstruct​ ​the​ ​circulation​ ​of​ ​blood​ ​vessels,​ ​causing 

ischemic​ ​(circulatory)​ ​issue 

ii. Patient​ ​example-​ ​treatable​ ​with​ ​IV​ ​fluids​ ​and​ ​analgesics 

1. Treatment​ ​may​ ​revealed​ ​pleuritic​ ​chest​ ​pain​ ​and​ ​mild​ ​dyspnea 

along​ ​with​ ​high​ ​body​ ​temperature​ ​jaundice. 

2. ​ ​Physical​ ​exam​ ​on​ ​patient​ ​revealed​ ​rales​ ​(rattling​ ​sounds)​ ​heard​ ​in 

lungs​ ​upon​ ​auscultation 

b. Patient​ ​experienced​ ​a​ ​slightly​ ​enlarged​ ​heart​ ​with​ ​fluid​ ​in​ ​the​ ​right​ ​minor​ ​fissure 

in​ ​the​ ​lung 

1. Resulted​ ​in​ ​findings​ ​consistent​ ​with​ ​pleural​ ​effusion 

c. ​ ​Patient’s​ ​blood,​ ​throat,​ ​and​ ​urine​ ​cultures​ ​were​ ​collected​ ​for​ ​further​ ​lab​ ​analysis.  

i. Intensive​ ​care​ ​unit  

ii. Initial​ ​treatment​ ​for​ ​symptom​ ​included​ ​antibiotics,​ ​and​ ​narcotic​ ​analgesic, 

and​ ​40​ ​percent​ ​oxygen​ ​by​ ​facemask 

3. Routine​ ​blood​ ​test​ ​can​ ​be​ ​given​ ​to​ ​check​ ​for​ ​hemoglobin​ ​S,  

a. sickle​ ​cell​ ​mutation​ ​causes​ ​the​ ​hemoglobin​ ​tetramer​ ​to​ ​lose​ ​two​ ​negative​ ​charge 

4. Vaso​ ​occlusive​ ​crisis​ ​is​ ​one​ ​of​ ​the​ ​hallmark​ ​symptoms​ ​of​ ​sickle​ ​cell​ ​disease​ ​that​ ​can​ ​be 

triggered​ ​by​ ​dehydration,​ ​fever,​ ​hypothermia,​ ​or​ ​stress 

a. ​ ​Present​ ​schematic​ ​of​ ​this​ ​biochemical​ ​pathway​ ​what​ ​particular​ ​pathway​ ​is 

affected​ ​in  

b. Pain​ ​signals​ ​travel​ ​from​ ​the​ ​periphery​ ​through​ ​the​ ​spinal​ ​cord​ ​to​ ​the​ ​brain. 
5. How​ ​patient​ ​condition​ ​fits​ ​into​ ​this​ ​larger​ ​biochemical​ ​pathway​ ​what​ ​particular​ ​part​ ​is 

affected   

6. Vasoocclusive​ ​crises​ ​are​ ​treated​ ​with​ ​hydration​ ​and​ ​analgesics.  

a. Pain​ ​control 

i. Achieved​ ​with​ ​opioids​ ​and​ ​opiate​ ​derivatives 

b. Infection​ ​prevention​ ​also​ ​aids​ ​a​ ​patient’s​ ​chances​ ​of​ ​survival 

i. Use​ ​of​ ​antibiotics. 

c. An​ ​allogeneic​ ​bone​ ​marrow​ ​transplant​ ​can​ ​help​ ​a​ ​sickle​ ​cell​ ​patient’s​ ​body 

produce​ ​normal​ ​hemoglobin  

i. Benefits​ ​may​ ​outweigh​ ​the​ ​risks​ ​if​ ​the​ ​patient’s​ ​condition​ ​is​ ​severe 

d. Average​ ​life​ ​expectancies​ ​currently​ ​average​ ​about​ ​60​ ​years​ ​for​ ​men​ ​and​ ​68​ ​for 

women 

i. A​ ​regular​ ​healthy​ ​lifestyle​ ​is​ ​beneficial​ ​to​ ​the​ ​patient 

ii. Prone​ ​to​ ​tiring​ ​more​ ​quickly​ ​than​ ​usual 

1. ​ ​Overexertion​ ​and​ ​excessive​ ​stress​ ​is​ ​likely​ ​to​ ​be​ ​avoided  

2. Must​ ​avoid​ ​extreme​ ​heat​ ​or​ ​cold,​ ​dehydration,​ ​and​ ​unpressurized 

cabins​ ​in​ ​airplanes. 

7. Infants​ ​can​ ​be​ ​screened​ ​for​ ​sickle​ ​cell​ ​disease​ ​before​ ​they​ ​are​ ​born​ ​via​ ​amniocentesis 

a. Outcome​ ​for​ ​people​ ​living​ ​with​ ​sickle​ ​cell​ ​disease​ ​are​ ​exponentially​ ​better​ ​than 

they​ ​they​ ​were​ ​40-50​ ​years​ ​ago 

b. Take​ ​into​ ​effect​ ​the​ ​impact​ ​of​ ​limited​ ​healthcare​ ​resources​ ​in​ ​some​ ​countries 
i. Scarcity​ ​of​ ​resources​ ​and​ ​health​ ​care​ ​rationing​ ​may​ ​be​ ​more​ ​readily 

apparent 

ii. Preimplantation​ ​genetic​ ​diagnosis​ ​can​ ​identify​ ​and​ ​eliminate​ ​embryos​ ​with

genetic​ ​defects

8. Patient​ ​in​ ​the​ ​case​ ​study​ ​was​ ​treated​ ​according​ ​to​ ​the​ ​standard​ ​of​ ​care​ ​for​ ​a​ ​vaso​ ​occlusive

crisis

a. Medical​ ​team​ ​could​ ​not​ ​have​ ​done​ ​anything​ ​differently​ ​other​ ​than​ ​giving​ ​him​ ​a

bone​ ​marrow​ ​transplant​ ​if​ ​appropriate​ ​and​ ​viable

9. Sickle​ ​cell​ ​anemia​ ​is​ ​increasingly​ ​being​ ​viewed​ ​as​ ​a​ ​chronic​ ​condition​ ​that​ ​can​ ​be 

managed​ ​with​ ​appropriate​ ​medication​ ​and​ ​lifestyle​ ​adjustments 

a. medical​ ​team​ ​left​ ​no​ ​stone​ ​unturned​ ​in​ ​the​ ​diagnostic​ ​process 

i. ​ ​Taking​ ​lab​ ​cultures​ ​to​ ​determine​ ​if​ ​pneumonia​ ​could​ ​be​ ​a​ ​cause​ ​of​ ​the 

patient's​ ​pain​ ​and​ ​respiratory​ ​distress. 

ii. ​ ​Antibiotics​ ​were​ ​given​ ​as​ ​curative​ ​measure​ ​against​ ​further​ ​complications 

iii. The​ ​patient’s​ ​condition​ ​worsened​ ​before​ ​slowly​ ​moving​ ​after​ ​after​ ​a​ ​stint 

in​ ​the​ ​intensive​ ​care​ ​unit​ ​that​ ​included​ ​IV​ ​fluids​ ​intubation,​ ​antibiotics, 

and​ ​pain​ ​medications.