Sickle Cell Anemia &
Health Disparities
Everardo Cobos, MD
Hematology Division
Summer Seminar on Health Disparities
Sickle Cell Anemia & Health
Disparities: outline
 Review of sickle cell anemia
 Brief review of health disparities
 Interplay between sickle cell anemia and
health disparity
 Increase awareness of racial, ethnic, gender,
geographic disparities in health care among
the general public and key stakeholders, and
increase health care providers’ awareness of
disparities
What is Sickle Cell Anemia (SCA)?
 First described in Chicago in 1910 by James Herrick
as an inherited condition that results in a decrease in
the ability of red blood cells to carry oxygen
throughout the body
Sickle red blood cells become hard
and irregularly shaped (resembling a
sickle)
Become clogged in the small blood
vessels and therefore do not deliver
oxygen to the tissues.
Lack of tissue oxygenation can
cause excruciating pain, damage to
body organs and even death.
Red blood cells Going through
Vessels
Sickle Cell Syndromes
 Sickle cell trait
 Sickle cell anemia
 Hemoglobin SC
 Hemoglobin SE
 Sickle/Thal anemia
 Sickle cell HPHF
Genetics
 2 copies of the gene
for Hb (each parent)
 HbS –
Recessive
 S=Sickle
 A=Normal

Genetic disease NOT a black
disease
Some Genetic History
 The error in the hemoglobin gene results from a genetic
mutation that occurred many thousands of years ago in people
in parts of Africa, the Mediterranean basin, the Middle
East, and India.
 A deadly form of malaria was very common at that time
 Malaria epidemics caused the death of many
 In areas where malaria was a problem, children who
inherited one sickle hemoglobin gene and who, therefore,
carried the sickle cell trait - had a survival advantage.
 Unlike the children who had normal hemoglobin genes, they
survived the malaria epidemics they grew up, had their own
children, and passed on the gene- for sickle hemoglobin.
Sickle Cell Gene
Severe Malaria
Sickle Hemoglobin Haplotype
Distribution in Africa. The three
major ßs-globin haplotypes found
in Africa are shown. The
distributions represent the highest
concentrations. The genes are
expressed at lower frequency
outside the highlighted zones.
Sickle Hemoglobin Haplotype Distribution in
the Middle East and India. The ßs-globin
haplotype found in the Middle East and India are
shown. The haplotypes are identical in the two
areas. The gene probably originated in India and
was carried to the Persian Gulf area by trade
and migration.
Hemoglobin Haplotype
History
 As populations migrated, the sickle cell-mutation
spread to other Mediterranean areas, further into the
Middle East and eventually into the Western
Hemisphere.
 In the United States and other countries where
malaria is not a problem, the sickle hemoglobin gene
no longer provides a survival advantage.
 Instead, it may be a serious threat to the carrier's
children, who may inherit two abnormal sickle
hemoglobin genes and have sickle cell anemia.
Medical Complications
1. pain episodes
2. strokes
3. increased infections
4. leg ulcers
9. kidney damage and
loss of body water in urine
10. painful erections in men
(priapism)
5. bone damage
11. blood blockage in the spleen
or liver (sequestration)
6. yellow eyes or
jaundice
12. eye damage
7. early gallstones
13. low red blood cell counts
(anemia)
8. lung blockage
14. delayed growth
Serious Complications
 Infectious complications
 Prominent early in life
 Leading cause of morbidity and mortality
 Great improvement in the prognosis related to newborn
screening for sickle cell disease, vaccination for childhood
illnesses, the use of prophylactic antibiotics, and aggressive
diagnosis and treatment of febrile events
 Acute splenic sequestration
 Episodes of rapid increase in splenic size and decrease in
hemoglobin
 Potential source of morbidity and mortality early in life for
children with sickle cell anemia and at any age for those with Hb
SC disease and sickle thalassemia
Serious Complications
 Strokes
 Up to 15% of children may have overt or silent strokes during
childhood
 Chronic transfusion therapy reduces the recurrence rate of
overt stroke which may approach 75% without intervention
 Bone disease
 Early risk is primarily from osteomyelitis
 Infectious usually painful inflammatory disease of bone often of
bacterial origin and may result in bone tissue death
 Avascular necrosis of the femur and humerus
 Death of bone tissue due to disrupted blood supply
 Marked by severe pain in the affected region and by
weakened bone that may flatten and collapse
Serious Complications

Leg ulcers
 Seen in patients older than 10 years of age
 Resistant to therapy and cause significant morbidity
 Ophthalmic complications

Proliferative retinopathy, vitreous hemorrhage, & retinal detachment
 Priapism



Distressing complication that occurs at all ages
Difficult to treat
Causes a high incidence of impotence
 Chronic Anemia

Associated with fatigue, irritability, jaundice, pain, delayed puberty, leg
sores, eye problems, gum disease
Serious Complications: PAIN
Recurrent Pain Episodes or Sickling Crises
 Occur at any age but appear to be particularly frequent
during late adolescence and early adult life
 Unpredictable
 Red Blood Cells get stuck in the small veins and prevent
normal blood flow
 Characterized by severe pain in the back, chest,
abdomen, extremities, and head
 Highly disruptive to life
 Most common reasons for individuals to seek health
care
Three common types of
Sickle Cell Disorders
1. Sickle Cell Anemia

Sickle hemoglobin (HbS) + Sickle hemoglobin (HbS)

Most Severe – No HbA
Other Sickling Disorders
Other types of Hb combine with sickle Hb
2. Hemoglobin S-C disease

Sickle hemoglobin (HbS) + (HbC)
3. Hemoglobin S-Beta thalassemia



Beta thalassaemia gene reduces the amount of HbA
that can be made
Sickle hemoglobin (HbS) + reduced HbA
Milder form of Sickle Cell Disorder than sickle cell
anemia
“‘Sickle Cell Anemia: It's Not a “Black Disease”’
 One of the common misconceptions
is that only black people get sickle
cell, but this is not the case.
 There are many different ethnicities
that can have sickle cell.
“of all forms of inequality,
injustice in health care is
the most shocking and
inhumane”
Martin Luther King, Jr
Health disparities
IOM

STUDY CHARGE

Assess the extent of racial and ethnic differences in healthcare that are
not otherwise attributable to known factors such as access to care (e.g.,
ability to pay or insurance coverage);

Evaluate potential sources of racial and ethnic disparities in healthcare,
including the role of bias, discrimination, and stereotyping at the
individual (provider and patient), institutional, and health system levels;
and,

Provide recommendations regarding interventions to eliminate
healthcare disparities.
Evidence of Racial and Ethnic Disparities
in Healthcare
 Disparities consistently found across a wide range of disease
areas and clinical services
 Disparities are found even when clinical factors, such as stage
of disease presentation, co-morbidities, age, and severity of
disease are taken into account
 Disparities are found across a range of clinical settings,
including public and private hospitals, teaching and nonteaching hospitals, etc.
 Disparities in care are associated with higher mortality among
minorities (e.g., Bach et al., 1999; Peterson et al., 1997; Bennett
et al., 1995)
Black and White Differences in Specialty Procedure
Utilization Among Medicare Beneficiaries Age 65
and Older
Black White
Black-toWhite Ratio
Angioplasty
(procedures per 1,000 beneficiaries per year)
2.5
5.4
0.46
Coronary Artery Bypass Graft Surgery
(procedures per 1,000 beneficiaries per year)
1.9
4.8
0.40
Mammography
(procedures per 100 women per year)
17.1
26.0
0.66
Hip Fracture Repair
(procedures per 100 women per year)
2.9
7.0
0.42
6.7
1.9
3.64
2.0
0.8
2.45
Amputation of All or Part of Limb
(procedures per 1,000 beneficiaries per year)
Bilateral Orchiectomy
(procedures per 1,000 beneficiaries per year)
Source: Gornick et al., 1996
Differences, Disparities, and Discrimination: Populations with
Equal Access to Health Care
Clinical Appropriateness
and Need
Patient Preferences
The Operation of Healthcare
Systems and the Legal and
Regulatory Climate
Disparity
Minority
Non-Minority
Quality of Health Care
Difference
Populations with Equal Access to Health Care
Discrimination: Biases and
Prejudice, Stereotyping, and
Uncertainty
SUMMARY OF FINDINGS
Racial and ethnic disparities in health care exist and,
because they are associated with worse outcomes in many
cases, are unacceptable.
Racial and ethnic disparities in health care occur in the
context of broader historic and contemporary social and
economic inequality, and evidence of persistent racial and
ethnic discrimination in many sectors of American life.
Many sources – including health systems, health care
providers, patients, and utilization managers – contribute to
racial and ethnic disparities in health care.
Disparities in the Clinical
Encounter: The Core Paradox
How could well-meaning and highly
educated health professionals, working in
their usual circumstances with diverse
populations of patients, create a pattern
of care that appears to be discriminatory?
Disparities in the Clinical Encounter:
The Core Paradox
Possibilities examined: bias (prejudice), uncertainty,
stereotyping
 Bias – no evidence suggests that providers are more likely
than the general public to express biases, but some
evidence suggests that unconscious biases may exist
 Uncertainty – a plausible hypothesis, particularly when
providers treat patients that are dissimilar in cultural or
linguistic background
 Stereotyping – evidence suggests that physicians, like
everyone else, use these ‘cognitive shortcuts’
SUMMARY OF
RECOMMENDATIONS
 GENERAL RECOMMENDATIONS
 Increase awareness of racial, ethnic, gender, geographic
disparities in health care among the general public and
key stakeholders, and increase health care providers’
awareness of disparities.
Sickle cell disease history/awareness
 1920 described in literature
 1949 Linus Pauling “Sickle Cell Disease; A
Molecular Disease”, Science
 1968-1972; period of political
activity/awareness for sickle cell disease




MLK health disparities & sickle cell
“A warm december”; Sidney Portier
TV movie Bill Cosby
Marcus Welby, MD
President Richard Nixon surprised many in his health message by
putting sickle cell disease into the glowing spotlight of presidential
politics. He said, "There are moments in biomedical research when
problems begin to break open and results begin to pour in. We
believe that cancer research has reached such a point. A second
targeted disease for constrained research should be sickle cell
anemia. It is a sad and shameful fact," he said, "that the causes of
this disease have been largely neglected throughout our history. We
cannot rewrite the record of neglect, but we certainly can reverse it."
Funding:
There are huge disparities between the amounts of federal dollars
allocated to sickle cell when compared to other disorders. For
example, there are three times as many babies born with SCD than
with cystic fibrosis, 8,000 versus 2,500. For every baby born with
cystic fibrosis there are $2,733 research dollars spent to find a cure
in contrast to $345.58 spent for every baby born with SCD (National
Institutes of Health)
Source: http://www.nbcchicago.com/brchannel/FP-HLX-BackgroundInformation-on-Sickle-Cell-Disease.html#ixzz0uHEhUidB
Marker of Negative Attitudes and Their Manifestations in
the Delivery of Care to Patients with Sickle Cell
Disease
Marker
Manifestation
•
Establishment of nonteaching service managed by a nurse
practitioner or physician assistant.
•
Exemption of hematology fellows from participating in the delivery of
care on a regular basis.
•
Employment of a part-time physician to deliver
•
Cursory care for a few hours on weekdays only
•
Inadequate or nonexistent coverage in the absence of the part-time
physician
•
Restriction of frequency of treatment of painful episodes with
opioids in the emergency department on a prescheduled basis.
Usually once a week
•
Patients denied the right to choose
Ultimatums
•
Mandatory compliance with "homemade" rules to avoid expulsion
Procrastination
•
Frequent denial, postponement, or last minute cancellation of
diagnostic and therapeutic interventions
Segregation
Inadequate
coverage
Rationing
Treatment of Sickle Cell Pain
Fostering Trust and Justice
William T. Zempsky, MD
JAMA. 2009;302(22):2479-2480.
The following scenario serves as an example of an emerging literature on
injustice in health care.
A 19-year-old man with sickle cell disease presents to the emergency
department with progressive leg and back pain. His hooded sweatshirt is pulled
over his eyes, he is wearing headphones, and is singing along to an unheard
tune. His attempts to manage his pain at home have been unsuccessful and he
tells the nurse that his pain is a 9 on a 10-point scale. The nurse responds with
apparent disbelief and says "Really?" then sends the patient to the waiting
room where he sits for several hours before seeing a physician. The patient's
request for a specific dose of morphine is met with doubt and disdain.
This patient is stigmatized as a drug seeker or abuser, with little consideration
for the complexities of his pain. Justice in this context is . . .
The Sickle Cell Pain Believer
I woke up in severe pain.
I tried to control it, but in vain.
Sleepy, hungry and thirsty, I collapsed.
I opened my eyes with my pain enhanced.
I went to my primary care physician
Hoping to achieve a remission.
They said I had a seizure,
In addition to a high fever.
He said, "You are a drug addict,
And that's my verdict.
They rushed me into a stall
And treated me with diminished gall.
I do not believe what you say.
There will be no prescription today.
Finally, I received pain meds with some relief.
This greatly reduced my grief.
You did not keep the terms of our agreement
And, hence, there will be no treatment.“
They decided to admit me to the hospital
A decision that was most acceptable.
I dragged myself to the emergency room.
There I was also met with doubt and gloom.
I was happy to come to the end of my ordeal
And to be treated with respect and more zeal.
I had to go through triage
And wait for release from my quayage.
But I am most thankful to the seizure.
It made a doubting physician a believer.
Hours passed at a pace that was slow
But my pain continued to grow.
Bioethicists Examine Trust Toward Physicians Among Adults
With Sickle Cell Disease
Main Category: Biology / Biochemistry
Article Date: 04 Jun 2010 - 18:00 PDT
Posted: February 10, 2010 Hematology News
Access to care, pain relief still problems for sickle cell
patients
Even though expert panels recommend hydroxyurea therapy
and clinical trial data assure its safety and efficacy,
confounding barriers continue to restrict its use.
Prevalence
o
o
o
o
o
o
It is estimated the up to 80,000
people in America have Sickle Cell
Disease
1/500 African Americans have Sickle
Cell Disease
1/1000 -4000 Hispanics have Sickle
Cell
1/12 African Americans are carriers
for Sickle Cell
1/50 Asians are carriers for Sickle
Cell
1/100 Greeks are carriers for Sickle
Cell