Thalassemia-like phenotype in a novel complex hemoglobinopathy with α, β, δ globin chain abnormalities

J Pediatr Hematol Oncol. 2011 Dec;33(8):589-91. doi: 10.1097/MPH.0b013e318228255c.

Abstract

The occurrence of multiple abnormalities of α, β, δ, and γ globin genes may lead to unusual and complex phenotypes when they arise simultaneously in the same individual. Here, we report the findings of an African American boy who coinherited 3 heterozygous globin gene abnormalities: the unstable β-globin chain variant; hemoglobin (Hb) Showa-Yakushiji [β110(G12) Leu→Pro], the δ-globin chain variant; HbB2 [δ16(A13) Gly→Arg] and α-thalassemia (α-thal); (α-/αα). Hb Showa-Yakushiji had been previously described in Japanese, Indian, and European populations. We report its first occurrence in a child of African ancestry who presented with anemia not responsive to iron and an incomplete β-thalassemia minor phenotype. Although the clinical and laboratory features of Hb Showa-Yakushiji mimic those of a β-thalassemia, the coinheritance of the δ-globin chain variant Hb B2 suppressed the relative increase in Hb A2 usually observed in heterozygotes for the Hb Showa-Yakushiji mutation. Protein-based methods detected only a trace amount of HbB2 and failed to reveal presence of Hb Showa-Yakushiji and α-thal. The latter were only identified through DNA analyses. The diagnostic difficulties, molecular characteristics, and genotype/phenotype correlations of this novel complex hemoglobinopathy syndrome are reviewed.

Publication types

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

MeSH terms

  • Anemia / etiology
  • Anemia / genetics*
  • Black or African American / genetics
  • Child, Preschool
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote
  • Humans
  • Male
  • Phenotype
  • alpha-Thalassemia / blood
  • alpha-Thalassemia / complications
  • alpha-Thalassemia / genetics*
  • beta-Thalassemia / blood
  • beta-Thalassemia / complications
  • beta-Thalassemia / genetics*
  • delta-Thalassemia / complications
  • delta-Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Showa-Yakushiji