USMLE (Fach) / Hematology and Oncology (Lektion)

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α-globin gene deletions → ↓ α-globin synthesiscis deletion (--/αα) prevalent in Asian populationstrans deletion (-α/-α) prevalent in African populations (offspring don't develop HbH or hydrops fetalis because mutations occur on separate chromosomes)

1 allele deletion (αα/α-): α-thalassemia minima. No anemia (silent carrier).

2 allele deletion (α-/α-; trans) or (αα/--; cis): α-thalassemia minor. Mild microcytic, hypochromic anemia; cisdeletion may worsen outcome for the carrier's offspring.

3 allele deletion (α-/--): HbH disease. Very little α-globin; excess β-globin forms β4 (HbH). Moderate to severe microcytic hypochromic anemia.

4 allele deletion (--/--): Hb Barts; excess γ-globin forms γ4. Hydrops fetalis; incompatible with life.

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