Case report: Alpha G-Philadelphia, beta O-Arab, and beta C globins present in a single patient

Academic Article

Abstract

  • The case of a 7-month-old Nigerian child who presented with anemia and microcytosis is described. Hemoglobin electrophoresis studies revealed a band with pronounced cathodic mobility. This represented a heterohybrid hemoglobin tetramer composed of an α-globin mutant, G-Philadelphia (αGPhil), and two variant β-globin chains, βC and βO-Arab. The absolute amounts of αGPhil found in the propositus were less than expected for an α2-globin gene product. It has not been established whether αGPhiladelphia interacting with βO-Arab and βC globin chains is the cause of the microcytosis.
  • Authors

    Digital Object Identifier (doi)

    Author List

  • Prchal JT; Kutiar A; Hall K; Robinson CA; Scott CW
  • Start Page

  • 307
  • End Page

  • 311
  • Volume

  • 305
  • Issue

  • 5