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alpha thalassemia-1 (alpha-thalassemia trait, cis form)

Epidemiology: - found in Asian & Mediterranean populations Genetics: 1) - -/ alpha alpha (2 of 4 functional alpha globin genes) 2) two functional alpha globin genes on each chromosome 16 (deletion or malfunction of 2 genes on same chromosome) Pathology: hydrops fetalis found in these populations Laboratory: 1) complete blood count a) mild anemia: blood hemoglobin of 12-13 g/dL; 10 g/dL [3] b) MCV 70-80 fL (microcytosis); case presented with MCV of 62 fL [3] 2) peripheral smear: a) rare red blood cell inclusions b) hypochromia & microcytosis 3) hemoglobin electrophoresis: - Hgb A (85-95%) - hemoglobin A2 normal - hemoglobin F normal [3]

References

  1. Saunders Manual of Medical Practice, Rakel (ed), WB Saunders, Philadelphia, 1996, pg 585-86
  2. Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 651
  3. Medical Knowledge Self Assessment Program (MKSAP) 18, 19. American College of Physicians, Philadelphia 2018, 2022