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 s-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 s-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 9. kidney damage and

2. strokes loss of body water in urine

3. increased infections 10. painful erections in men

(priapism)
4. leg ulcers
11. blood blockage in the spleen
5. bone damage or liver (sequestration)
6. yellow eyes or 12. eye damage
jaundice
13. low red blood cell counts
7. early gallstones (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 non-
teaching 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-to-
Black White
White Ratio

Angioplasty
2.5 5.4 0.46
(procedures per 1,000 beneficiaries per year)
Coronary Artery Bypass Graft Surgery
1.9 4.8 0.40
(procedures per 1,000 beneficiaries per year)
Mammography
17.1 26.0 0.66
(procedures per 100 women per year)
Hip Fracture Repair
2.9 7.0 0.42
(procedures per 100 women per year)
Amputation of All or Part of Limb
6.7 1.9 3.64
(procedures per 1,000 beneficiaries per year)
Bilateral Orchiectomy
2.0 0.8 2.45
(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

Difference
The Operation of Healthcare
Non-Minority

Systems and the Legal and

Regulatory Climate
Quality of Health Care

Disparity
Discrimination: Biases and
Minority

Prejudice, Stereotyping, and

Uncertainty

Populations with Equal Access to Health Care

 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-Background-
Information-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
Segregation 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

Inadequate Cursory care for a few hours on weekdays only

coverage

Inadequate or nonexistent coverage in the absence of the part-time

physician

Rationing 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
 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. Sleepy, hungry and thirsty, I collapsed.
I tried to control it, but in vain. I opened my eyes with my pain enhanced.

I went to my primary care physician They said I had a seizure,

Hoping to achieve a remission. In addition to a high fever.

He said, "You are a drug addict, They rushed me into a stall

And that's my verdict. And treated me with diminished gall.

I do not believe what you say. Finally, I received pain meds with some relief.
There will be no prescription today. This greatly reduced my grief.

You did not keep the terms of our agreement They decided to admit me to the hospital
And, hence, there will be no treatment. A decision that was most acceptable.

I dragged myself to the emergency room. I was happy to come to the end of my ordeal
There I was also met with doubt and gloom. And to be treated with respect and more zeal.

I had to go through triage But I am most thankful to the seizure.

And wait for release from my quayage. 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 It is estimated the up to 80,000

people in America have Sickle Cell
Disease
o 1/500 African Americans have Sickle
Cell Disease
o 1/1000 -4000 Hispanics have Sickle
Cell
o 1/12 African Americans are carriers
for Sickle Cell
o 1/50 Asians are carriers for Sickle
Cell
o 1/100 Greeks are carriers for Sickle
Cell