1. Sickle Cell Trait: Know Your Status Jacqueline Rodriguez-Louis, MPH, M.Ed.

2. Overview What is Sickle Cell Trait (SCT)? Who Has SCT? What causes SCT? Why Do I Care about SCT? What is Sickle Cell Disease (SCD)? Sickle Cell Trait: What Do I Do Next?

3. What is Sickle Cell Trait? Hemoglobin – Found in the red blood cells – Carries oxygen in the blood Many types of Hemoglobin – Hemoglobin A: Adult Hemoglobin – Hemoglobin S: Sickle Hemoglobin Sickle Cell Trait – Individuals have Hemoglobin A + S

4. Who has Sickle Cell Trait? ~3 million people in the US have sickle cell trait (SCT) 1 in 12 (8%) African Americans in the US have SCT Also commonly seen in… South American (Brazil) Central American (Honduras) Caribbean (Haiti) Mediterranean (Greece) Middle Eastern (Saudia Arabia) South Central Asian populations (India)

5. Malaria and Sickle Cell Trait Malaria is an infection of the red blood cells Sickle cell trait provides some protection against malaria India Middle East Caribbean Africa Central, South America Mediterranean

6. Malaria and Sickle Cell Trait 6 Malaria is an infection of the red blood cells Sickle cell trait provides some protection against malaria Mediterranean India Middle East Caribbean Africa Central, South America

7. How does someone get SCT? It is inherited, it is not contagious! We inherit 2 genes for hemoglobin Sickle Cell Trait (Hemoglobin AS) 1 Sickle hemoglobin (Hemoglobin S) 1 Adult hemoglobin (Hemoglobin A)

8. Diagnosis of Sickle Hemoglobin in Infancy Since 2006, all US babies undergo newborn screening for Sickle Hemoglobin All babies screened in MA since 1990 Identifies sickle cell disease and trait

9. Diagnosis of Sickle Hemoglobin in Pregnancy All pregnant women are screened through blood tests at the start of prenatal care If found to have any abnormal values, additional testing is done for mother Fathers are screened if mother has sickle cell trait or another abnormal hemoglobin Stopped targeted screening because ethnicity no longer reliable

10. Treatment of Sickle Cell Trait NO routine treatment needed RARE Problems Rapid enlargement of spleen at high altitudes Occasional microscopic blood in urine Extreme exercise or dehydration – e.g., NCAA Kidney problems and even death NOTE: Extreme exercise or dehydration can cause these same problems in the general population

11. Sickle Cell Disease

12. Facts: Sickle Cell Disease Most commonly inherited disease in US 2,000 newborns/year diagnosed 1 in 400 African American births 1 in 16,000 Hispanic births Approximately 1 in 1,100 Hispanic births on East Coast SCD affects approximately 100,000 individuals in the US

13. http://www.nhlbi.nih.gov/health/health- topics/topics/sca/

14. Types of Sickle Cell Disease More severe forms Hb SS (sickle cell anemia) – 60%+ Less severe forms Hb SC disease – 25% Many other forms, less common in US 14

15. How is sickle cell disease inherited? Autosomal recessive inheritance If both parents have trait: http://www.cdc.gov/ncbddd/sicklecell/ 1 in 4 (25%) chance to have a child that will not have sickle cell disease or SCT 2 in 4 (50%) chance to have a child with SCT 1 in 4 (25%) chance to have a child with sickle cell disease

16. Infection Pain episodes Stroke Acute Chest Syndrome 16 Common Features of SCD Children with SCD Adults with SCD Bone disease Eye disease Gall bladder disease Leg ulcers Anemia: Hemoglobin levels in SCD = 7-10 Normal level: 12-15

17. Sickle Cell Trait: Next Steps Talk to your family Does anyone have sickle cell disease? Talk to your doctor Does it make sense to be screened for sickle cell trait? CBC, Hemoglobin electrophoresis

18. Thank you! Questions?

19. CDC 2006 Survival in Sickle Cell Anemia Years 0 10 20 30 40 50 60 70 80 19001910192019301940195019601970198019902000 42 yr men 48 yr women All Americans Sickle Cell Anemia