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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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1. Sickle Cell DiseaseNeil Grossman, MDProfessor, Department of PediatricsUniversity of Maryland School of Medicine9-27-2006
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 DiseaseCrisis/Episode Vaso-occlusive
Sequestration
Aplastic
Hyperhemolytic
Fever/Infection
11. Sickle Cell DiseaseCrisis/Episode Vaso-occlusive
Sequestration
Aplastic
Hyperhemolytic
Fever/Infection
12. Sickle Cell DiseaseCrisis/Episode Vaso-occlusive
Sequestration
Aplastic
Hyperhemolytic
Fever/Infection
13. Sickle Cell DiseaseCrisis/Episode Vaso-occlusive
Sequestration
Aplastic
Hyperhemolytic
Fever/Infection
14. Sickle Cell DiseaseCrisis/Episode Vaso-occlusive
Sequestration
Aplastic
Hyperhemolytic
Fever/Infection
15. Sickle Cell DiseaseCrisis/Episode Vaso-occlusive
Sequestration
Aplastic
Hyperhemolytic
Fever/Infection