Genetic basis of persistent red blood cell microcytosis in the Chinese unexplained by phenotypical testing.

Abstract excerpt

AIMS: Hypochromic microcytic anaemia is the hallmark phenotype of thalassaemia. Current phenotypical tests do not provide a diagnosis in a small proportion of patients with red blood cell microcytosis. We aim to evaluate the genetic basis of red cell microcytosis in these cases in our Chinese population. METHODS: We identified from a large cohort of 1684 unselected requests for thalassaemia testing 23 Chinese...

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