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Beta-Talassemia

Beta-Talassemia. malattia autosomica recessiva ridotta sintesi di catene beta dell’Hb dd con varianti strutturali dell’Hb anemia ipocromica e microcitica dd con anemia sideropenica ridotto volume corpuscolare (MCV) ridotta Hb corpuscolare media (MCH)

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Beta-Talassemia

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  1. Beta-Talassemia • malattia autosomica recessiva • ridotta sintesi di catene beta dell’Hb • dd con varianti strutturali dell’Hb • anemia ipocromica e microcitica • dd con anemia sideropenica • ridotto volume corpuscolare (MCV) • ridotta Hb corpuscolare media (MCH) • GR nucleati nello striscio e aumento HbF e HbA2 • fenotipo correlato alla mutazione • Beta°/Beta° (1°-2° anno di vita, AIM, splenomegalia…) • Beta°/Beta+ (AIM a diagnosi più tardiva) • Beta+/Beta+ (AIM a diagnosi più tardiva) • portatori Beta°/WT o Beta+/WT (tratto talassemico)

  2. Varianti strutturali dell’HB (mut b) • Nuove caratteristiche fisiche (anemia emolitica) • HbS Glu6Val (AR) • HbC Glu6Lys (AR) • Emoglobine instabili (anemia emolitica) • Hb Hammersmith Phe42Ser (AD) • Hb Gun Hill 5aa del (AD) • Alterato trasporto dell’O2 • Hb Hyde Park His92Tyr (AD) • Hb Kempsey Asp99Asn (AD) • Hb Kansas Asn102Thr (AD) • Hb Tak 11 aa add (AR) • Effetto di tipo talassemico • HbE Glu26Lys (AR) • Hb Lepore fusione delta-beta (AR) • Hb Miyada fusione beta-delta (AR)

  3. Beta-Talassemia

  4. Catene dell’Hb LCR 20 e 40 Kb 5’ dei 2 clusters a 141 aa p13.3 p15.4 • b 146 aa • 146 aa solo 10 aa diversi sacco vitellino -> fegato 3° sett 5° sett

  5. Conseguenze di riarrangiamenti genomici

  6. Beta-Talassemia

  7. Beta-Talassemia

  8. Mutazioni con effetto biologico lieve

  9. IVS2-1G>A

  10. IVS1-110G>A +19nt>fs HbE Glu26Lys

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