An alpha-thalassemic hemoglobinopathy: homozygosity for the HB Agrinio alpha 2-globin chain variant

Hemoglobin. 1998 May;22(3):209-15. doi: 10.3109/03630269809113135.

Abstract

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 biosynthesis consistent with heterozygous beta-thalassemia, but paradoxically, red cell morphology demonstrated very rare Hb H inclusions. The father had mild microcytosis and hypochromia. Analysis of alpha- and beta-globin genotypes demonstrated that the patient was homozygous for the highly unstable Hb Agrinio variant, caused by a T-->C mutation in codon 29 of the alpha 2-globin gene. At the age of 13 years, the proband had a clinical phenotype compatible with mild thalassemia intermedia with moderate anemia (Hb 7-8 g/dL), normal growth and development, slight splenomegaly, and minimal bone changes, while Hb H and inclusion bodies were not detected.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genetic Carrier Screening
  • Genotype
  • Globins / genetics
  • Hemoglobins, Abnormal / genetics*
  • Homozygote*
  • Humans
  • Infant
  • Male
  • Point Mutation*
  • alpha-Thalassemia / blood
  • alpha-Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • hemoglobin A(2)-Agrinio
  • Globins