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 journalArticle

2 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)589-591
Number of pages3
JournalJournal of Pediatric Hematology/Oncology
Volume33
Issue number8
DOIs
StatePublished - Dec 1 2011

Fingerprint

Hemoglobinopathies
Thalassemia
Globins
Phenotype
Hemoglobin A2
Multiple Abnormalities
Molecular Pathology
beta-Thalassemia
Genetic Association Studies
Heterozygote
African Americans
Genes
Anemia
Hemoglobins
Iron
hemoglobin Showa-Yakushiji
Mutation
DNA
Population
Proteins

Keywords

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

ASJC Scopus subject areas

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

Cite this

Thalassemia-like phenotype in a novel complex hemoglobinopathy with α, β, δ globin chain abnormalities. / Sabio, Hernan; Dixon, Natalia; Patel, Niren; Obiaga, Chinwe; Zhuang, Lina; Meiler, Steffen E; Kutlar, Abdullah; Kutlar, Ferdane.

In: Journal of Pediatric Hematology/Oncology, Vol. 33, No. 8, 01.12.2011, p. 589-591.

Research output: Contribution to journalArticle

Sabio, Hernan ; Dixon, Natalia ; Patel, Niren ; Obiaga, Chinwe ; Zhuang, Lina ; Meiler, Steffen E ; Kutlar, Abdullah ; Kutlar, Ferdane. / Thalassemia-like phenotype in a novel complex hemoglobinopathy with α, β, δ globin chain abnormalities. In: Journal of Pediatric Hematology/Oncology. 2011 ; Vol. 33, No. 8. pp. 589-591.
@article{faddfeccfaed43099bcee3e28849112a,
title = "Thalassemia-like phenotype in a novel complex hemoglobinopathy with α, β, δ globin chain abnormalities",
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.",
keywords = "β-thalassemia-like phenotype, β -thalassemia (-β deletion), Hb B, hemolytic anemia, unstable β-chain variant",
author = "Hernan Sabio and Natalia Dixon and Niren Patel and Chinwe Obiaga and Lina Zhuang and Meiler, {Steffen E} and Abdullah Kutlar and Ferdane Kutlar",
year = "2011",
month = "12",
day = "1",
doi = "10.1097/MPH.0b013e318228255c",
language = "English (US)",
volume = "33",
pages = "589--591",
journal = "Journal of Pediatric Hematology/Oncology",
issn = "1077-4114",
publisher = "Lippincott Williams and Wilkins",
number = "8",

}

TY - JOUR

T1 - Thalassemia-like phenotype in a novel complex hemoglobinopathy with α, β, δ globin chain abnormalities

AU - Sabio, Hernan

AU - Dixon, Natalia

AU - Patel, Niren

AU - Obiaga, Chinwe

AU - Zhuang, Lina

AU - Meiler, Steffen E

AU - Kutlar, Abdullah

AU - Kutlar, Ferdane

PY - 2011/12/1

Y1 - 2011/12/1

N2 - 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.

AB - 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.

KW - β-thalassemia-like phenotype

KW - β -thalassemia (-β deletion)

KW - Hb B

KW - hemolytic anemia

KW - unstable β-chain variant

UR - http://www.scopus.com/inward/record.url?scp=80455158078&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=80455158078&partnerID=8YFLogxK

U2 - 10.1097/MPH.0b013e318228255c

DO - 10.1097/MPH.0b013e318228255c

M3 - Article

C2 - 22042275

AN - SCOPUS:80455158078

VL - 33

SP - 589

EP - 591

JO - Journal of Pediatric Hematology/Oncology

JF - Journal of Pediatric Hematology/Oncology

SN - 1077-4114

IS - 8

ER -