Sickle Cell Trait or Disease by gxj15372

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									           Sickle Cell: Trait or Disease

           Sickle Cell Anemia Society of
                   Arizona, Inc.



9/4/2010
9/4/2010
   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
9/4/2010
       Sickle cell disease education
•   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
9/4/2010
       Sickle cell disease education
•   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
9/4/2010
           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.

9/4/2010
       Sickle cell disease education
•   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)
9/4/2010
           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.

9/4/2010
  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.
9/4/2010
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
9/4/2010
           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
9/4/2010
    Symptoms or signs of anemia are:

General:
• Fatigue (feeling very tired)
• Paleness (pallor)
• Yellowing of the skin and eyes (jaundice)
• Shortness of breath


9/4/2010
           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 ….)
9/4/2010
       Persons with sickle cell trait:

    * Generally have no symptoms
    * Live normal lives
    * Can pass the sickle cell gene on to
           their children.


9/4/2010
   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.
9/4/2010
           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.


9/4/2010
  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
9/4/2010
              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.
9/4/2010
          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.
9/4/2010
    Other symptoms of sickle cell disease:
•   Pallor                 • Delayed growth &
•   Pain                     puberty
•   Jaundice               • Priapism
•   Hand-foot syndrome     • Infections
•   Eye problems           • Gallstones
•   Stroke                 • Sores (ulcers) on the
•   Acute chest syndrome     legs (chronic)
•   Weakness, general      • Spleen dysfunction

9/4/2010
           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
9/4/2010
           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
9/4/2010
    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.


9/4/2010
 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
9/4/2010
    Sickle cell disease: Pregnancy care
• 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

9/4/2010
Sickle Cell Disease: New developments

•   Hydroxyurea therapy
•   Exchange transfusions
•   Marrow exchange/transplant
•   Super-hydration
•   Special ―interim‖ pain management
•   Constant search for co-morbidities
•   Gene therapy?
9/4/2010
References
• Harrison’s Textbook of Medicine
• Cecil’s Textbook of Medicine
• Websites:
  <http://www.sicklecelldisease.org/>
     –     <www.WebMD.com>
     –     <www.sicklecelldisease.org/phoenix.htm>
     –     <www.nhlbi.gov/>
     –     <www.emory.edu/>
• Hope and Destiny: Platt & Sacerdote
9/4/2010
           Sickle Cell Disease




9/4/2010
           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


9/4/2010

								
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