Emilio Aguinaldo College

College of Medicine

SICKLE-CELL ANEMIA

PRESENTED BYGroup C-11

BISHT, ANUJ
KUMAR, VIKAS
SINGH, ANKUR
GUPTA, SHARAD

OBJECTIVES
1) Introduction
2) History of sickle cell anemia
3) Physical examination
4) Diagnosis
5) Path physiology
6) Epidemiology
7) Treatment
8) Prognosis

HAEMOGLOBIN

OXYGEN CARRYING PIGMENT PRESENT IN RBCs.

HAEMOGLOBIN

HEME
IRON

GLOBIN PROTEIN
QUATERNARY
STRUCTURE

FUNCTIONS OF
HAEMOGLOBIN
1)
2)
3)
4)
5)

HAEMOGLOBIN AS OXYGEN CARRIER

HAEMOGLOBIN AS CARBON DIOXIDE CARRIER
COLOR OF BLOOD
BUFFERING ACTION
INTERACTION WITH DRUGS

PATIENT HISTORY

8 YRS/ MALE.
SEVERE PAIN IN BOTH LOWER EXTREMITIES.
SEVER PAIN ATTACKS OF SCORE 8/10 (PEDIATRIC).
NO NOTABLE TRIGGERS PAIN EPISODE EXCEPT
DURING SUDDEN CHANGES IN TEMPERATURE.

NO FAMILY HISTORY.

REVIEW OF CASE
POSITIVE SYMPTOMS
- TOLERATE PAIN IN
LOWER EXTREMITIES
ON AND
OFF(EPISODIC).
- PALE PALPABERAL
CONJUCTIVA
- WHEN ANALYZED BY
HEIGHT AND WEIGHT,
PATIENT WAS
COMPUTED TO BE
SMALL FOR BOYS OF
HIS AGE GROUP

NO CHANGE

REGULAR HEART RATE

NO MURMER
CLEAR BREATH
SOUNDS
NO MOTOR OR
SENSORY DEFICITS ON
ALL EXTREMITIES

HISTORY

Sickle cell anemia was the first diagnosed

disease that was linked to the hemoglobin
protein and genetically characterized
1910: First Description of Sickle Cell
Disease
Dr. B. Herrick wrote a report about a
patient who suffered from a "strange
disease" including such symptoms as
asthmatic conditions and blood flow
problems including body ulcers


1911: Second Published Case of Sickle Cell
Disease
Shortly after, a female patient aged 25 years was
described with symptoms of sickle cell disease.
She had been in medical care for some years but
had previously been diagnosed with a form of
pernicious anemia with unusual characteristics.
Similarly to the first case, the patient had a blood
film that clearly demonstrated the form of sickle
hemoglobin cells.


1915: Third Published Case and Suggestion of
Genetic Link
The third recorded case was a 21-year-old female
that once again showed the blood film that was
indicative of sickle cell disease.
1922: Fourth Published Case and Sickle Cell
Anemia Terminology
A 21-year-old male patient was the fourth case of
sickle cell disease in published literature, and the
first case that used the terminology of sickle cell
anemia.

Consolidation Period

In this period of time, there were more case

reports of patients with sickle cell disease,
strengthening the medical knowledge of the
disease.
At this time malaria was also developed.

AWARENESS PERIOD

Throughout the 1970s, there were several

health organizations that expressed an
interest in sickle cell disease and helped to
create awareness and raise funding for
research. As a result of this research, the life
expectancy and quality of life for patients with
the disease has improved dramatically.

GENERAL PHYSICAL
EXAMINATION OF SCD
Vitals
Oxygen saturation, heart rate, respiratory rate,
blood pressure and temperature
Growth parameters
Growth delay and delay of sexual maturation is
common
General Appearance
Severe distress Patients are at risk for serious
presentations such as MI or stroke, chest crisis,
bacteremia and sepsis which will require
immediate intervention

Abdominal exam
Splenomegaly may be appreciated initially, after
which the spleen size regresses
Skin
Pallor of skin, lips or nail bed
Ulcers or open sores
Jaundice
Respiratory
Signs of infection like pneumonia caused by
encapsulated bacteria.

Ophthalmology
Acuity
Detailed retinal exam: neovascularization,
detachment and black sunburst hemorrhages
DACTYLITIS
Inability to move extremities
Painful swelling of hand and/or feet

PHYSICAL EXAMINATION OF
PATIENT

B.P = 90/60
HR= 100
RR= 18
TEMP.= 37.4 CELSIUS
PALE PALPEBRAL CONJUNCTIVA
SYMMETRICAL CHEST EXPANSION
LIVER & SPLEEN NOT PALPATED
NO TENDERNESS ON PALPATION OF ALL EXTREMITIES
NO MOTOR OR SENSORY DEFICITS ON ALL EXTREMITIES

DIFFERENT TYPES
OF DIAGNOSTIC
METHODS
HEMOGLOBIN
SOLUBILITY

SICKLE TEST

ELECTROPHOR
ESIS TEST

SCREENING
TEST FOR
NEWBORNS

TESTS

DNA ANALYSIS

SICKLING TEST
A sample of venous blood or capillary
blood may be collected for this test.
(Venous blood from the
arm.*Capillary blood from the
finger tips or ear lobes and in
infants from the heel of the
foot.)
Mixing blood with the reducing
agent, sodium metabisulphite, will
induce sickling in susceptible cells.

 the results can be viewed under a

microscope after 20 minutes.

Negative Test
HbA

This test is simple and

quick, used to identify the
presence of HbS.
Normal
Sickled
RBC
RBC
*Positive sickling test
associated with a normal
haemoglobin is likely
to indicate a patient with
sickle cell trait.

Positive Test
HbS

Sickle Solubility Test

(SST)
A rapid and inexpensive technique used to
screen for the presence of sickling
hemoglobins, can be used at home.
A positive result must be confirmed by another
method (HPLC or electrophoresis) to confirm
the presence of Hb S and to distinguish Hb AS
(carrier state) from Hb SS (sickle cell disease).
Disadvantage: Other insoluble hemoglobins,
such as Hb C-Harlem, will also give a positive
result.

METHODS-Depend on phosphate
solubility
Erythrocytes are lysed by saponin
The released hemoglobin is reduced
by sodium hydrosulfite in a
phosphate buffer.
Reduced HbS is characterized by its
very low solubility and the formation
of neumatic liquid crystals (tactoids).

The presence of HbA under

these same conditions
results in a clear red
solution.

The resulting tactoids

of HbS causes the
solution to remain
turbid.

Hemoglobin
Electrophoresis test
Haemoglobin electrophoresis will
differentiate between homozygous
and heterozygous conditions.
Hemoglobin types have different
electrical charges and move at
different speeds.

HbAS: Has both HbA and

HbS.

Shows 2 bands
HbSS: Is less
negative by 2
compared to HbA .
Migrates slower than
HbA

Newborn screening
It is performed via the most sensitive Hb
isoelectric focusing or HPLC fractionation
and identifies the specific types of
hemoglobin present.
In newborns who carry the sickle
cellgene, fetal hemoglobin F will
predominate, but a small amount of
hemoglobin S will also be present.
There also may be a small amount of
hemoglobin A if they have sickle cell trait.

DNA analysis
This test is used to investigate alterations
andmutationsin the genes that produce
hemoglobin components.
It may be performed to determine whether
someone has one or two copies of the Hb S
mutation or has two different gene mutations.
Genetic testing is most often used for
prenatal testing: The usual tests offered are
chorionic villus sampling (CVS) or
amniocentesis 14 to 16 weeks.

PATHOPHYSIOLOGY OF SICKLE
CELL ANEMIA

EXAMPLE OF INHERITANCE PATTERN

COMPLICATIONS
1)

Anemia
i) splenic sequestration crisis
ii) Aplastic crisis
Infection
Delayed growth
2) Acute pain crisis(vaso-occlusion)
3) Hand-foot syndrome
4) Vision problems
5) Stroke
6) Acute chest syndrome
7) Pulmonary hypertension
8) Kidney problems
9) Gall stones
10) Priapism
11) Avascular necrosis

EPIDEMIOLOGY OF SCD

SCD is a genetic disease affecting 70,000

100,000 Americans, primarily of African descent.

Most common genetic disease among blacks

SCD occurs in 1 of every 500 black births

1:1,100 Hispanics (eastern states)
1:32,000 Hispanics (western states)
SCD occurs in many other ethnic groups,
including Northern Europeans and those that live
in the Middle Eastern Countries
1:12 African-Americans are carriers (trait) for the
disorder

Comparison of Life Expectancy

US Population vs. Sickle Cell Disease

Changes in Life Expectancy

National Center for Health Statistics (CDC)

Compared 1999-2007 with 1979-1998

Largest declines in ages 0-4

Smaller but significant declines up to age 19

Due

to prophylactic treatment with penicillin and

vaccinations
Transcranial

doppler screening identifies children at risk of

stroke; placed on chronic transfusion therapy to prevent

stroke

No differences in the 20-24 age group

Increase in death rate ages: 45-54, 55-65, and 65-75

SICKLE CELL DISEASE (SCD)

COMMON GENOTYPES
Genotype
Sickle cell anemia (SS, most
severe form)
Sickle/Hb C disease (SC,
lesser severity, but can still
have pain episodes, and
life-threatening
complications)
Sickle/Beta plus thalassemia
(S+ thalassemia, similar to
SC)
Sickle/Beta zero thalassemia

Approximate % of US
Patients
65 %
25 %

8%
2%

TREATMENTS OF SCD
1)
2)
3)
4)
5)
6)
7)

Blood transfusions
Stem cell transplant
Antibiotics
Preventing painful episodes
Hydroxyurea
Nitric oxide
Statins

PROGNOSIS OF
SCD
New and aggressive treatments for sickle cell
disease are prolonging life and improving its
quality.
Recently as 1973, the average lifespan for people
with sickle cell disease was only 14 years.
Currently, life expectancy for these patients can
reach 50 years and over.

 As children with sickle cell disease live longer,

older patients are now facing medical problems
related to the long-term adverse effects of the
disease process.

END OF
PRESENTATION