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TALASEMIAS ALFA
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Etiologia, factores de riesgo, clasificaciones, diagnostico, manifestaciones clinicas y tratamiento
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TALASEMIAS ALFADefectos genéticos donde se sintetizan inadecuadamente las cadenas de
globinas
Síntesis anormal de una de las 2 cadenas de hb (alfa o beta)
Destrucción excesiva de eritrocitos → Anemia
Trastorno monogénico más frecuente
Zonas más frecuentes:
● Oriente medio
● África
● Sudeste de Asia → Corea, Myanmar, Vietnam
Microcítica hipocrómica
6 tipos de cadenas → A,B,G,D,E,L
Estado embrionario
Hb Gower 1 (L2,E2) / Hb Gower 2 (A2, E2), Hb Portland (L2,G2)
8 SDG → Síntesis en hígado → HbF (A2G2) (90%) / HbA2 (A2,D2) (10%)
18 SDG a nacimiento → Hígado a medula ósea → HbF/HbA2 → HbA/HbA2
ETIOPATOGENIA
Def en Cromosoma 16 → Talasemia alfa
Def en Cromosoma 11 → Talasemia beta
HbA → 2 cadenas alfa, 2 cadenas beta
Hb fetal → 2 cadenas alfa, 2 cadenas gamma
Hb Bart está presente en talasemia alfa
Talasemia alfa es menos grave que beta
SINDROMES TALASEMICOS
● Se dan por deleción en uno o ambos genes
Alfa
- A0 → Cuando no hay síntesis de cadena alfa
- A+ → Cuando es AA/A, AA/--, A-/--
Beta
- b0 → Talsemia mayor / Anemia de Cooley
- B+ → Talasemia intermedia
- B++ → Talasemia menor
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