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Sickle Cell Disease Neil Grossman, MD Professor, Department of Pediatrics University of Maryland School of Medicine 9

Sickle Cell Disease. Hemoglobin Types:A1: ?2?2A2: ?2?2F: ?2?2. Sickle Cell Disease. Sickle Hemoglobin:?2 ?2 6 GLU?VAL. Sickle Cell Disease. Hemoglobin Electrophoresis:pH 8.2AFSCpH 6.2CSAF. Newborn Screen . RESULTINTERPRETATIONFA AANormal F

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Sickle Cell Disease Neil Grossman, MD Professor, Department of Pediatrics University of Maryland School of Medicine 9

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    1. Sickle Cell Disease Neil Grossman, MD Professor, Department of Pediatrics University of Maryland School of Medicine 9-27-2006

    2. Sickle Cell Disease Hemoglobin Types: A1: ?2?2 A2: ?2?2 F: ?2?2

    3. Sickle Cell Disease Sickle Hemoglobin: ?2 ?2 6 GLU?VAL

    4. Sickle Cell Disease Hemoglobin Electrophoresis: pH 8.2 A F S C pH 6.2 C S A F

    5. Newborn Screen RESULT INTERPRETATION FA AA Normal FAS AS Sickle Trait FAC AC C Trait FAD AD D Trait FAE AE E Trait FS SS Sickle Cell Disease FSC SC Sickle-C Disease

    6. Sickle Cell Disease Incidence SS 1:625 SC 1:1000

    7. Sickle Cell Disease Incidence Trait and Disease: 8-10% of African-Americans Disease: 0.3-1.3% of African- Americans

    8. Sickle Cell Disease Mendelian Inheritance Autosomal Recessive

    9. Sickle Cell Disease Variants SS: 65% SC: 21% S-?+thal: 5-7% S-?othal: 5-7% Others

    10. Sickle Cell Disease Crisis/Episode Vaso-occlusive Sequestration Aplastic Hyperhemolytic Fever/Infection

    11. Sickle Cell Disease Crisis/Episode Vaso-occlusive Sequestration Aplastic Hyperhemolytic Fever/Infection

    12. Sickle Cell Disease Crisis/Episode Vaso-occlusive Sequestration Aplastic Hyperhemolytic Fever/Infection

    13. Sickle Cell Disease Crisis/Episode Vaso-occlusive Sequestration Aplastic Hyperhemolytic Fever/Infection

    14. Sickle Cell Disease Crisis/Episode Vaso-occlusive Sequestration Aplastic Hyperhemolytic Fever/Infection

    15. Sickle Cell Disease Crisis/Episode Vaso-occlusive Sequestration Aplastic Hyperhemolytic Fever/Infection

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