1 Sickle Cell Disease

2 Bone marrow produces RBCs with defective hemoglobin

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4 Sickle Cell Disease Hemoglobin S –RBCs become misshaped or sickle- shaped

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6 Sickle Cell Disease Hemolytic anemia Inherited disorder –Autosomal recessive disease –One gene from each parent

7 Sickle Cell Disease Hemoglobin A gene + Hemoglobin S gene = sickle cell trait Trait –No symptoms of sickle cell disease –RBCs do not sickle –Can pass defective hemoglobin S to children

8 Symptoms: Chronic Anemia Weakness Tiredness Pale appearance Yellowing of skin and whites of eyes Shortness of breath, especially with exertion

9 Symptoms: Blocked Vessels Pain symptoms related to blocked vessels in Bones Organs Other tissues Extreme pain a.k.a. painful events –painful event = crisis

10 What happens? Fetal hemoglobin (hemoglobin F) –First six months –Protects RBCs from sickling Normal RBCs have 120 day lifespan Sickled RBCs live no longer than 20 days Severe anemia is the result!!

11 Complications of Blockage Sudden stroke Cognitive impairment Second leading cause of hospitalization in sickle cell disease Liver Kidneys Lungs Spleen Penis

12 Complications of Anemia Bone marrow stops producing RBCs Heart failure and death can result if not quickly treated Folic acid is needed to make RBCs Risk of forming gallstones

13 Other Complications Take daily antibiotic Adult size--normal Ulcers Blockage to inner lining--the retina Average age of death –42 for men –48 for women

14 Inheriting the Disease People with sickle cell trait –Have 1 in 2 (50%) chance of passing the defective Hemoglobin S gene to each of their children If both parents have sickle cell trait –Each of their children will have a 1 in 4 (25%) chance of having sickle cell disease

15 Inheriting the Disease If one parent has sickle cell disease and the other has sickle cell trait –Each child will have a 1 in 2 (50%) chance of having sickle cell disease and a 1 in 2 (50%) chance of having sickle cell trait If one parent has sickle cell disease and the other has normal hemoglobin –Each child will have sickle cell trait

16 Lack of Oxygen Cigarette smoke –Includes secondhand smoke High altitude –Locations higher than 5000 feet Air travel

17 Ongoing Treatment Regular doctor visits Daily antibiotics for children age 1-5 Management of pain Annual eye exams after age 10

18 Treatment Transfusions –To prevent strokes Hydroxyurea –Increases fetal hemoglobin production –Does not cure sickle cell disease –People live longer Pain medications –Prescription and non-prescription

19 Treatment Surgery –Splenectomy –Cholecystectomy

20 Special Needs Not drinking enough water may increase the risk that blood cells will sickle Exposure to cold air and water can trigger a painful event