Sickle Cell: Trait or Disease

1. Sickle Cell: Trait or Disease Sickle Cell Anemia Society of Arizona, Inc.

3. 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

4. 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

5. 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

6. 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.

7. 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)

8. 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. 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.

10. 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

11. 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

12. Symptoms or signs of anemia are: General: • Fatigue (feeling very tired) • Paleness (pallor) • Yellowing of the skin and eyes (jaundice) • Shortness of breath

13. 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 ….)

14. Persons with sickle cell trait: * Generally have no symptoms * Live normal lives * Can pass the sickle cell gene on to their children.

15. 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.

16. 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.

17. 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

18. 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.

19. 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.

20. 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 Other symptoms of sickle cell disease:

21. 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

22. 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

23. 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.

24. 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

25. 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

26. 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?

27. 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

28. Sickle Cell Disease

29. 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