Transcript Sickle Cell: Trait or Disease

Sickle Cell: Trait or Disease
Sickle Cell Anemia Society of
Arizona, Inc.
7/21/2015
7/21/2015
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Purpose of sickle cell education
• Theory is that you should know as much or
more than your provider about something
that you have, your disease/ailment
• The more you know, the better prepared you
are to make the decisions about your care
• The more you know, the better prepared you
are to provide/seek better preventive care for
yourself
• You need true facts, not myths
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Sickle cell disease education
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Factual information
No myths – look for a reliable source
Should be easily understandable
Plain talk
References for verification available
Should usually not “mix” therapies, as this
may be counter-productive
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Sickle cell disease education
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Factual information
No myths – look for a reliable source
Should be easily understandable
Plain talk
References for verification available
Should usually not “mix” therapies, as this
may be counter-productive
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Hemoglobinopathy
Definition: A disease in which the type
of hemoglobin in a person’s red blood
cells differs either qualitatively or
quantitatively from the hemoglobin
that is usually contained in normal red
cells.
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Sickle cell disease education
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Factual information
No myths – look for a reliable source
Should be easily understandable
Plain talk
References for verification available
Should usually not “mix” therapies, as this
may be counter-productive (alternate & herbal
therapies often conflict, to patient’s detriment)
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Hemoglobinopathy
Definition: A disease in which the type
of hemoglobin in a person’s red blood
cells differs either qualitatively or
quantitatively from the hemoglobin
that is usually contained in normal red
cells.
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Sickle cell anemia affects millions of people
throughout the world.
Sickle cell anemia is more common in people whose
families come from:
* Parts of Africa (typically the region south of the
Sahara Desert)
* Spanish-speaking areas like South America, Cuba,
Caribbean, and Central America
* Saudi Arabia
* India
* Mediterranean countries, such as Turkey, Greece,
and Italy.
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Hemoglobin Diseases: The finding in Arizona
• Ethnic balance not as “expected”
• Definitely NOT a Black disease
– 25% Black, 25% Hispanic, 25% white
– Remainder Asian, Middle Eastern,
Mediterranean
• Not as much disease expertise as found in
Eastern cities
– some ignorance among the public and also
among health care providers
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Sickle cell disease
• A disease with abnormal hemoglobin, a
hemoglobinopathy
• Stress causes the red cell to sickle, and to
obstruct blood vessels
• Usual stress is decreased oxygen, and
sickling increases as the stress remains
• Body saves the cell, and re-uses the iron &
hemoglobin after its destruction/absorption
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Symptoms or signs of anemia are:
General:
• Fatigue (feeling very tired)
• Paleness (pallor)
• Yellowing of the skin and eyes (jaundice)
• Shortness of breath
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Sickle Cell Disease
• Disease diagnosis based upon presence of a
specific variant gene, the sickle gene
• If only one gene, then person has trait
• Must have 2 variant genes to have disease
• More abnormal hemoglobins than just the
sickle hemoglobin gene
(C, D, F, E, O ….)
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Persons with sickle cell trait:
* Generally have no symptoms
* Live normal lives
* Can pass the sickle cell gene on to
their children.
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When two people with sickle cell trait
have a baby, there is a:
* One in four chance (25 percent) the baby will
inherit two sickle cell genes and have the disease.
* One in four chance (25 percent) the baby will
inherit two normal genes and not have either the
disease or trait.
* Two in four chance (50 percent) the baby will
inherit one normal gene and one sickle cell gene.
The baby will not have the disease, but will have
sickle cell trait like the parents.
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Sickle Cell Anemia
Today, with good health care, many persons
with the disease:
• Are in reasonably good health much of the
time
• Live fairly normal lives
• Live 40 to 50 years and longer.
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Sickle Cell Anemia - a basic care guide
• Avoid dehydration (especially in a hot, desert
climate)
• Avoid high altitudes
• Avoid high stress situations
• Attempt “continuity-of-care” rather than
“episodic” care via the Emergency Room
• Always take someone with you as an
advocate rather than going to the E.R. alone
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Sickle cell symptoms:
• Pain is the symptom of sickle cell anemia that
most people are familiar with. It occurs in both
children and adults. Pain results from blocked
blood and low oxygen. Painful events or crises
may occur in any body organ or joint. Some
patients have painful crises less than once a year.
Others may have as many as 15 or even more
crises in a year. The pain can be acute (sudden),
chronic (long lasting), or a mixture of the two.
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Types of sickle cell pain:
• Acute pain is the most common type of pain. It is
sudden pain that can range from a mild ache to
very severe pain. The pain usually lasts from hours
to a few days. With complications or poor
treatment, the pain can last for weeks.
• Chronic pain usually lasts 3 to 6 months or
longer. Chronic pain can be hard to bear and
mentally draining. This can severely limit daily
activities.
• Mixed pain is a combination both of acute and
chronic pain.
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Other symptoms of sickle cell disease:
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Pallor
Pain
Jaundice
Hand-foot syndrome
Eye problems
Stroke
Acute chest syndrome
Weakness, general
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• Delayed growth &
puberty
• Priapism
• Infections
• Gallstones
• Sores (ulcers) on the
legs (chronic)
• Spleen dysfunction
Functions of the Advocate
• To divert away potential suspicion of
possible drug addiction
• To advocate/complain if the patient is
“allowed” (or made) to wait long periods
without medical attention/attendance or
relief
• To remind the medical staff of the patient’s
presence in the ER
• To divert away (receive) potential anger of
the ER medical staff, rather than the patient
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Tools of the Advocate
• Should know who is the usual PCP (primary
care provider)
• Should be assertive, without raising anger
or being aggressive
• Should know something about the patient’s
past care, and what gives specific relief
• Should know about the patient’s type of
disease, & the usual medications
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Sickle cell gene inheritance (2 parents w/ trait):
• The presence of two sickle cell genes (SS) is needed for
sickle cell anemia.
• If each parent carries one sickle hemoglobin gene (S) and
one normal gene — (A), then, with each pregnancy:
• there is a 25 percent chance of the child's inheriting two SS
genes and having sickle cell anemia;
• a 25 percent chance of inheriting two AA genes and not
having the disease;
• and a 50 percent chance of being an unaffected carrier
(AS) just like the parents.
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Sickle cell disease: a patient’s guide
• Learn as much as you can about the disease
generally, and about your case, specifically
• Use prevention as much as possible
• Learn what works for you
• Know about stereotyping
• Get an advocate to work with and for you
• Know your personal limitations
• Start treatment early, if at all possible
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Sickle cell disease: Pregnancy care
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Pre-plan the pregnancy
One of the highest risk conditions in OB
Seek care with a perinatologist
May need “exchange transfusions”
May require multiple and/or prolonged
hospital admissions
• Possible to determine early in the pregnancy
if the fetus will have SCD
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Sickle Cell Disease: New developments
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Hydroxyurea therapy
Exchange transfusions
Marrow exchange/transplant
Super-hydration
Special “interim” pain management
Constant search for co-morbidities
Gene therapy?
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References
• Harrison’s Textbook of Medicine
• Cecil’s Textbook of Medicine
• Websites:
<http://www.sicklecelldisease.org/>
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<www.WebMD.com>
<www.sicklecelldisease.org/phoenix.htm>
<www.nhlbi.gov/>
<www.emory.edu/>
• Hope and Destiny: Platt & Sacerdote
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Sickle Cell Disease
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Sickle Cell: Trait or Disease
Sickle Cell Anemia Society of Arizona, Inc.
1818 So. 16th Street
Phoenix, AZ 85034
602-254-5048 1-800-872-4871
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