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Hemoglobin dhonburi α 2 β 2 126 (H4) Val → Gly: A new unstable β variant producing a β‐thalassemia intermedia phenotype in association with β°‐Thalassemia
Author(s) -
BardakdjianMichau J.,
DelanoeGarin J.,
Lacombe C.,
Blouquit Y.,
Riou J.,
Galacteros F.,
Fucharoen S.,
Winichagoon P.,
Wasi P.,
Kister J.
Publication year - 1990
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830350206
Subject(s) - thalassemia , phenotype , intermedia , hemoglobin , hemoglobinopathy , genotype , hemolytic anemia , hemoglobin variants , genetics , biology , medicine , gene , art , performance art , art history
While investigating the mechanism of a β‐thalassemia intermedia phenotype in a 34 year old Thai male, a new Hb variant β 126 Val → Gly named Hb Dhonburi was discovered. Genetic and structural studies revealed the existence of a β°‐thalassemia genotype in association with the β variant. The new variant is unstable but exhibits normal oxygen binding properties. Hb Dhonburi was also discovered in the mother of the propositus in association with Hb E.