103.2 📚 國考版醫垫國考 / PGY OSCE

103.2.0.1 📌 Cram Sheet

103.2.0.1.1 🔥 高 yield 12
  1. HbS = β-globin Glu6Val point mutation
  2. SCD treatment foundation: hydroxyurea (↑ HbF + ↓ VOC)
  3. 新藥: L-glutamine, crizanlizumab (anti-P-selectin), voxelotor (HbS polymerization)
  4. Gene therapy 22E: exa-cel (Casgevy) CRISPR + lovo-cel (Lyfgenia) lentiviral
  5. ACS: pulmonary + chest + hypoxia (mortality)
  6. Stroke prevention: TCD screen 2-16 yr + chronic transfusion
  7. Autosplenectomy by 5 yr → encapsulated infection (penicillin + vaccines)
  8. α-thal 4 alleles: silent / trait / HbH / hydrops Bart’s
  9. β-thal trait HbA2 > 3.5%
  10. β-thal major (Cooley’s): transfusion + iron chelation; luspatercept + beti-cel/exa-cel gene therapy
  11. Iron chelation: deferoxamine / deferasirox / deferiprone
  12. 台灣 carrier ~ 4% (新生兒篩檢 + 遺傳諮詢)
103.2.0.1.2 🔢 必背
項目 æ•žå­—
HbS mutation β-globin Glu6Val
HbA2 β-thal trait > 3.5%
HbF normal adult < 1%
TCD stroke screen 2-16 yr; > 200 cm/s = chronic transfusion
Hb target SCD 9-10 (transfusion)
Hb target β-thal major 9-10
Penicillin prophy SCD until age 5
Hydroxyurea start age ≥ 9 mo (now infants)

103.2.0.2 ⭐ 高 yield

103.2.0.2.1 SCD Drugs
Drug Mechanism Indication
Hydroxyurea ↑ HbF + ↓ neut + NO Foundation; reduces VOC + mortality
L-glutamine (Endari) NAD precursor Reduces VOC
Crizanlizumab (Adakveo) Anti-P-selectin Reduces VOC
Voxelotor (Oxbryta) HbS polymerization inhibitor ↑ Hb
Exa-cel (Casgevy) CRISPR BCL11A SCD + β-thal (FDA 2023)
Lovo-cel (Lyfgenia) Lentiviral βA-T87Q SCD (FDA 2023)
103.2.0.2.2 Iron Chelators
Drug Route Frequency SE
Deferoxamine SC infusion overnight Daily Visual + hearing
Deferasirox (Exjade, Jadenu) PO Daily Renal + GI + LFT
Deferiprone (Ferriprox) PO TID Agranulocytosis
103.2.0.2.3 Hemoglobin Variants
Hb Composition Adult %
HbA α2β2 95-97%
HbA2 α2Ύ2 2-3%
HbF α2γ2 < 1%
HbS α2β2(Glu6Val) sickle
HbC α2β2(Glu6Lys) West Africa
HbE α2β2(Glu26Lys) SE Asia
HbBart’s γ4 hydrops fetalis
HbH β4 3 α-deletion
103.2.0.2.4 Crisis Types in SCD
  • Vaso-occlusive (most common)
  • Acute chest syndrome (mortality)
  • Splenic sequestration (pediatric)
  • Aplastic crisis (parvovirus B19)
  • Hemolytic crisis
  • Hyperhemolytic crisis (delayed transfusion)
  • Stroke
  • Priapism

103.2.0.3 🎯 自我檢枬

  1. SCD mutation? → β-globin Glu6Val
  2. SCD treatment foundation? → Hydroxyurea
  3. SCD anti-P-selectin? → Crizanlizumab
  4. SCD HbS polymerization inhibitor? → Voxelotor
  5. CRISPR for SCD? → Exa-cel (Casgevy)
  6. ACS = ? → Pulmonary infiltrate + hypoxia + chest pain
  7. Stroke prevention SCD? → TCD + chronic transfusion
  8. Penicillin prophy SCD until? → Age 5
  9. α-thal 4 alleles deleted? → Hydrops fetalis Bart’s
  10. α-thal 3 alleles deleted? → HbH disease
  11. β-thal trait HbA2? → > 3.5%
  12. β-thal major treatment? → Transfusion + iron chelation + (HSCT/gene therapy)
  13. Luspatercept indication? → β-thal transfusion-dependent + MDS-RS
  14. Iron chelation oral daily? → Deferasirox
  15. Iron chelation PO TID + agranulocytosis? → Deferiprone

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