Sickle Cell: Trait or Disease

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Sickle Cell Trait or Disease

• Sickle Cell Anemia Society of Arizona, Inc.

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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

• 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

• 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 persons 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

• 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 patients detriment)

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Hemoglobinopathy

• Definition A disease in which the type of
  hemoglobin in a persons 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

• Pallor
• Pain
• Jaundice
• Hand-foot syndrome
• Eye problems
• Stroke
• Acute chest syndrome
• Weakness, general

• Delayed growth puberty
• Priapism
• Infections
• Gallstones
• Sores (ulcers) on the legs (chronic)
• Spleen dysfunction

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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 patients
  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 patients past
  care, and what gives specific relief
• Should know about the patients 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 patients 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

• 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

• 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

• Harrisons Textbook of Medicine
• Cecils Textbook of Medicine
• Websites lthttp//www.sicklecelldisease.org/gt
• ltwww.WebMD.comgt
• ltwww.sicklecelldisease.org/phoenix.htmgt
• ltwww.nhlbi.gov/gt
• ltwww.emory.edu/gt
• 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