Article
An alpha-thalassemic hemoglobinopathy: homozygosity for the HB Agrinio alpha 2-globin chain variant.
Hemoglobin - 1 May 1998
Traeger-Synodinos J, Metaxotou-Mavromati A, Kanavakis E, Vrettou C, Papassotiriou I, Michael T, Kattamis C
Abstract excerpt
This report describes the first case of homozygosity for the Hb Agrinio [alpha 29(B10)Leu-->Pro] alpha 2-globin gene variant (codon 29, CTG-->CCG) in a Greek patient. At 12 months of age, the proband presented with a marked hypochromic, microcytic anemia, a very low level of Hb H (< 2.5%), rare Hb H inclusions, and a balanced alpha/non-alpha biosynthesis ratio. The mother had hematological findings and globin...
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