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Sickle Cell Anaemia Case Study Biology

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Daniel Degreiss, a 17-year old Afro-Caribbean male, arrived in A & A ; E really abruptly of breath. He has sickle-cell disease, and has been in and out of infirmary with crises all his life. His female parent reported that he had become progressively sick over the past hebdomad. Initially she thought he had a cold ; so he began to kick of a hurting in the right side of his thorax that hurt him when he breathed and when he coughed. He had argued with his female parent for two or three yearss antecedently because he had non wanted to come into the infirmary.

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On scrutiny: expressions ill, with cardinal cyanosis ; respiration rate 35/minute ; bosom rate 130/minute ; organic structure temperature 39.6oC.

On scrutiny: haemoglobin concentration 8.9g/100ml ; blood movie showed falcate red blood cells ; white blood cell count 25,000/cu. millimeter. ( 95 % neutrophils ) . Purulent phlegm contained many neutrophils and Gram-positive diplococci ; a blood civilization grew the same microorganism.

The A & A ; E physicians and their hematology co-workers diagnose pneumonia and blood poisoning, with Streptococcus pneumoniae identified as the cause.

He is treated ab initio with endovenous Mefoxins, but penicillin G is substituted when the bacterial sensitivenesss are known.

His female parent has had to take a batch of clip off work in the yesteryear, and Daniel has missed a batch of school. Although he had had a good relationship with the intervention squad in recent old ages, since he has been a adolescent he has been progressively ugly and independent, and does n’t desire to listen to advice.


Sickle Cell Disease & A ; Crises, Pneumonia, Septicaemia, Central Cyanosis, Gram Positive, Blood Cultures, Streptococcus Pneumoniae, Purulent Sputum, ( IV, IM, SC, IP ) , Erythrocytes, Neutrophils,


What does Cephalosporin & A ; Penicillin make?

Explain hurting in right thorax

What is a normal respiration rate, bosom / pulsation rate & A ; organic structure temperature?

Discover normal hemoglobin degrees / white blood cell count

What are bacterial/antibiotic sensitivenesss?

Discuss the psychosocial facets

Why are Sickle Cell sick persons more susceptible to streptococcic infections?

Fig 1 – Sickle Cell SummarySickle Cell Disease

On the cistron that codes for the I?-globin concatenation, @ the seventeenth base ( place 6 ) , a missense mutant causes the nucleotide base Adenine to be substituted by Thymine. The codon GAG, which codes for glutamic acid, becomes GTG, coding for valine.http: //www.ncbi.nlm.nih.gov/books/bookres.fcgi/gnd/sickle.gif

Sickle cell hemoglobin ( HbS ) is now produced alternatively of the normal grownup hemoglobin ( HbA ) ; while HbA2 and HbF ( fetal hemoglobin ) are still produced. The disease itself is an autosomal recessionary familial upset, therefore the cistron must be inherited from both parents – ensuing in HbSS ( homozygote signifier ) , to attest. Otherwise a bearer of HbS is known genotypically as HbAS ( heterozygote for ) and carries “ sickle cell trait ” . ( See figure 2 )

HbS is present in 15 % of the black population, chiefly impacting those of African descent, every bit good as those from South American and South Asiatic countries. ( See figure 3 )

Fig 3 – hazard relative to location

Fig 2 – Manner of Inheritance

a™¦A High Hazard

a™¦A Medium Hazard

a™¦A Low Risk

a™¦A Very Low Hazard

a™¦A No Hazard

a™¦A High Hazard

a™¦A Medium Hazard

a™¦A Low Risk

a™¦A Very Low Hazard

a™¦A No Hazard

hypertext transfer protocol: //upload.wikimedia.org/wikipedia/commons/0/08/Paludisme_-_Frequence_statistique.pngA chart that shows the chances of kids inheriting reaping hook cell traits from their parents.

HbS polymerises when deoxygenated, the proteins in the red blood cells form stiff rods, altering the cell form to one resembling a sickle – hence reaping hook cell. These become inflexible and hard to flux, every bit good as being more easy phagocytosed.

They besides become more adherent to vascular endothelium. Sickling is ab initio reversible but ruddy cells become increasingly more stiff due to membrane defects. Sickled ruddy cells have reduced lifetime and consequence in chronic hemolysis. [ 1 ]

This leads to microvascular occlusions – obstructors of vass such as capillaries, and reaping hook cell crises, which increases 1s hazard of shot and mesenteric ischemia.

These occlusions are foremost noticeable as acute hurting in the custodies and pess ( dactylitis ) in the first few old ages of life. Severe hurting in other castanetss e.g. thighbone, humerus, vertebrae, ribs, pelvic girdle, occurs in older children/adults. These onslaughts vary in frequence from day-to-day to possibly once a twelvemonth. Fever frequently accompanies the hurting. [ 2 ]

A splenetic infarction / segregation occurs when the blood flow to the lien is inhibited, therefore cut downing its O supply. This is one of the first infarctions a sick person may hold, frequently before 24months. The lien is distressingly enlarged and pooling of ruddy blood cells and hypovolemia may happen, taking to a fibrotic, non working lien. [ 2 ]

This increases one ‘s susceptibleness to infection, due to a decreased clearance of encapsulated bacteriums from the blood stream. [ 3 ]

Diagnostic Trials:

Blood Count: Hb level 6-8g/dL with a high reticulocyte count ( 10-20 % )

Blood Films ( microscopic probe of a bead of blood ) : can demo characteristics of hyposplenism and sickling.

Sickle Solubility Test: trial for presence of HbS, when added to a cut downing solution of Na dithionite, solution becomes turbid, otherwise clear with HbA

Hb Electrophoresis is required to corroborate a diagnosing, as the reaping hook solubility trial ( above ) does non separate between HbAS and HbSS. A positive consequence shows no HbA, 80-95 % HbS and 2-20 % HbF. [ 2 ]

Fig 4. Hb Electrophoresis

Long Term Problems:

Lower weight

Delayed sexual ripening

Acute chest syndrome in up to 30 % due to infection

Pneumonic high blood pressure and chronic lung disease are the most common cause of decease for those with sickle cell anemia

[ 2 ]


Exchange transfusions are given to keep HbS degrees at below 20 %

Analgesia such as morphia



Inoculations for possible infections like grippe

An IV saline trickle can be used to maintain blood pH & gt ; 7, diminishing the likeliness of sickling

Hyrdroxyurea when given stimulates production of HbF, which lowers the proportion of unnatural HbS.

[ 2 ]


Pneumonia is an acute lower respiratory piece of land unwellness associated with febrility, symptoms and marks in the thorax and abnormalcies on the chest x-ray. Incidence of community acquired pneumonia is 12 per 1000 grownups, and the most common cause of this ( 60-75 % ) is by streptococci pneumoniae.

Symptoms: Fever, asperities, unease, anorexia, dyspnea, cough, purulent phlegm, hemoptysis and pleuritic hurting.

Signs: Fever, cyanosis, confusion ( may be the lone mark in the aged ) , tachypnoea, tachycardia, hypotension.

Diagnostic Trials: Blood civilizations, Sputum Cultures, Pleural fluid civilization, X ray, Arterial Blood Gas if O2 sat & lt ; 92 % , full blood count

[ 4 ]


Bacterial pneumonia

Treatment for pneumonia should ideally be based on the causative micro-organism and its known antibiotic sensitiveness. Amoxicillin and clarithromycin or Erythrocin are the antibiotics selected for most patients with community-acquired pneumonia ; patients allergic to penicillins are given erythromycin alternatively of Amoxil. Antibiotics for hospital-acquired pneumonia include third- and fourth-generation Mefoxins among others.

Viral pneumonia

Viral pneumonia caused by grippe A may be treated with rimantadine or amantadine, while viral pneumonia caused by grippe A or B may be treated with oseltamivir or zanamivir. These interventions are good merely if they are started within 48 hours of the oncoming of symptoms.

[ 5 ]

[ 3 ] Flow chart of pneumonia direction

Blood poisoning:

Widespread devastation of tissues due to soaking up of disease doing bacteriums or their toxins from the blood watercourse. The term is besides used slackly for any signifier of blood toxic condition. Sick persons will necessitate a infirmary stay. [ 7 ]

Cardinal Cyanosis:

Cyanosis is the blue stain of the tegument and mucose membranes, when the capillary O impregnation is less than 85 % . Cardinal cyanosis is seen with the shunting of deoxygenated venous blood into the systemic circulation, as in the presence of a right-to-left bosom shunt. [ 8 ]

Cardinal cyanosis occurs when there is more than 50g/L of deoxyhaemoglobin nowadays. It is seen in the buccal mucous membrane, lips and lingua and may bespeak hypoxia. In anemia when hemoglobin degrees are low, cyanosis degrees may non be evident even if the patient is hypoxic. [ 9 ]

Cardinal cyanosis is frequently due to a circulatory or ventilatory job that leads to hapless blood oxygenation in the lungs or greater O extraction due to decelerating down of blood circulation in the tegument ‘s blood vass. [ 10 ]

Gram Positive:

Gram-positive bacteriums are those that are stained dark blue or violet by Gram staining. Gram-negative bacteriums can non retain the crystal violet discoloration, alternatively taking up the counterstain and looking ruddy or tap. Gram-positive beings are able to retain the crystal violet discoloration because of the high sum of peptidoglycan in the cell wall. Gram-positive cell walls typically lack the outer membrane found in Gram-negative bacteriums. [ 12 ]

Gram-positive includes many well-known genera such as Staphylococcus, Streptococcus, Enterococcus, ( which are coccus ) and Bacillus, Clostridium, and Listeria. [ 12 ]

[ 1 ] Diagram comparison gm positive and gram negative bacteriums

Blood Cultures:

Blood civilizations are used to observe the presence of bacteriums or barms in the blood, to place the micro-organism ( s ) nowadays, and to steer intervention.

Streptococcus Pneumoniae:

Streptococcus pneumoniae cells are Gram-positive, ( aerophilic ) , lancet-shaped coccus. Normally, they are seen as braces of coccus ( diplococci ) , but they may besides happen singly and in short ironss. When cultured on blood agar, they are alpha haemolytic. Individual cells are between 0.5 and 1.25 microns in diameter. [ 14 ]

Purulent Phlegm:

Phlegm: The mucous secretion and other affair brought up from the lungs, bronchial tube, and windpipe that one may cough up and ptyalize out or get down. The word “ phlegm ” is borrowed straight from the Latin “ to ptyalize. ” [ 15 ]

Purulent merely means “ pus containing ” . Pus is a thick white or xanthous fluid that is constituted of decomposed organic structure tissue, bacterium ( or other microorganisms that cause the infection ) , and dead scavenger cells.

An accretion of Pus in an enclosed tissue infinite is known as an abscess, while a seeable aggregation of Pus within or beneath the cuticle is known as a pustule or hickey. Pus is produced from the dead and populating cells which travel into the intercellular infinites around the affected cells. [ 17 ]

( IV, IM, SC, IP ) :

Four: Intravenous

IM: Intramuscular

Scandium: Hypodermic

Information science: Interphalangeal

[ 18 ]

Red blood cells:

( Technical name for a ruddy blood cell ) . A blood cell incorporating the ruddy pigment hemoglobin, the chief map of which is the conveyance of O. A mature red blood cell has no karyon and its form is that of a biconcave phonograph record about 7Aµm in diameter. There are usually about 5 ten 1012 erythrocytes per liter of blood. [ 19 ]


Are a polymorph and assortment of granulocyte / white blood cell. They have a lobed karyon and their cytol has granules that stain violet with Romanowsky discolorations. They phagocytose and kill bacteriums by let go ofing hydrolytic enzymes from their granules. [ 20 ]

What does Cephalosporin & A ; Penicillin make?

Both penicillin and Mefoxin are beta-lactam antibiotics.

Penicillin G is besides known as penicillin G, “ gilded criterion ” penicillin, derived from the Penicillium fungus. It is administered by a parenteral / non-oral path such as an injection / IV.

Cephalosporin, from cephalosporium, is a semi-synthetic, wide spectrum antibiotic.

When combined, these two drugs may expose “ transverse sensitiveness ” , whereby the patient has an allergic reaction, viz. annoyance in the GI piece of land.

Beta-lactams disrupt the synthesis of the cross links in the peptidoglycan cell wall, by impacting the enzyme DD-transpeptidase – therefore as this diminished signifier expands, it is destroyed by osmotic lysis.

What is a normal respiration rate, bosom / pulsation rate & A ; organic structure temperature?

A rectalA or ear ( tympanic membrane ) reading is 0.5 to 1A°F ( 0.3 to 0.6A°C ) higher than an unwritten reading. A temperature taken in the axilla is 0.5 to 1A°F ( 0.3 to 0.6A°C ) lower than an unwritten reading.

Body temperature


Average: 98.6A°F ( 37A°C ) .


Oral: 100A°F ( 37.8A°C ) Tympanic: 101A°F ( 38.3A°C ) indicates a little febrility.

Rectal: 100.4A°F ( 38A°C ) or higher in a kid indicates a febrility.

Tympanic less than 97A°F ( 36.1A°C ) indicates hypothermia.

( 21 )

Average respiratory rates, by age, in breaths per minute.

Neonates: Average 44

Babies: 20-40

Older kids: 16-25

Adults: 12-20

Adults during strenuous exercising 35-45

( 22 )

A normal bosom rate for an grownup at remainder is 60-80 BPM. Bradycardia occurs when the pulsation rate is below 60 per minute but is merely normally diagnostic when below 50BPM, whereas tachycardia occurs when the rate is above 100 BPM. During slumber, the pulsation can drop to every bit low as 40 BPM ; during strenuous exercising, it can lift every bit high as 150-200 BPM.

( 23 )

Discover normal hemoglobin degrees / white blood cell count

Haemoglobin Trial:

Normal values in an grownup are 12 to 18 gms per deciliter of blood. Above-normal hemoglobin degrees may be the consequence of:

desiccation, A

extra production of ruddy blood cells

terrible lung disease

Below-normal hemoglobin degrees may take to anemia that can be the consequence of:

Fe lack or other lacks, such as B12 and vitamin Bc,

inherited hemoglobin defects, such as reaping hook cell anemia or thalassemia,

inordinate hemorrhage,

inordinate devastation of ruddy blood cells,

[ 24 ]

White blood cell count:

Normal values for entire WBC and differential in grownup males and females are:

Entire WBC: 4,500 – 10,000 ( white blood cells per microlitre )

Sets or pangs: 3 – 5 %

Granulocytes ( or polymorphonuclears )

Neutrophils ( or segs ) : 50 – 70 % comparative value ( 2500-7000 absolute value )

Eosinophils: 1 – 3 % comparative value ( 100-300 absolute value )

Basophils: 0.4 % – 1 % comparative value ( 40-100 absolute value )

Agranulocytes ( or mononuclears )

Lymphocytes: 25 – 35 % comparative value ( 1700-3500 absolute value )

Moncytes: 4 – 6 % comparative value ( 200-600 absolute value )

Each derived function ever adds up to 100 % .

[ 25 ]

What are bacterial/antibiotic sensitivenesss?

Antibiotic sensitiveness is a term used to depict the susceptibleness of bacteriums to antibiotics. Antibiotic susceptibleness testing ( AST ) is normally carried out to find which antibiotic will be most successful in handling a bacterial infection in vivo. Testing for antibiotic sensitiveness is frequently done by the Kirby-Bauer method. [ 26 ]

Discuss the psychosocial facets

Daniel may endure racial favoritism at school for holding a “ black disease ” . He may be singled out and stigmatised for being of weaker wellness and inferior physically and be a mark of strong-arming. Others may believe what he has is contagious and will remain off from him, harming his societal value. This can impact his mental province, experiencing left out and in demand of greater parental support. His school work and attending may be compromised. Due to detain sexual ripening and a potentially shorter stature it is possible Daniel feels different to the other male childs in the group and is disadvantaged in any relationships he tries to hammer. Hormonal instabilities at this age may bring on irrational ideas of depression or increase the likeliness of domestic statements with his household.

1995 words

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Sickle Cell Anaemia Case Study Biology. (2017, Jul 10). Retrieved from https://graduateway.com/sickle-cell-anaemia-case-study-biology-essay-essay/

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