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

Hernan Sabio, Natalia Dixon, Niren Patel, Chinwe Obiaga, Lina Zhuang, Steffen E Meiler, Abdullah Kutlar, Ferdane Kutlar

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)589-591
Number of pages3
JournalJournal of Pediatric Hematology/Oncology
Issue number8
StatePublished - Dec 2011


  • Hb B
  • hemolytic anemia
  • unstable β-chain variant
  • β -thalassemia (-β deletion)
  • β-thalassemia-like phenotype

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology


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