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|Title:||Elevated Hb A<inf>2</inf> levels in a patient with a compound heterozygosity for the (β <sup>+</sup>)-31 (A > G) and (β <sup>0</sup>) Codon 17 (A > T) mutations together with a single α-globin gene|
|Keywords:||Biochemistry, Genetics and Molecular Biology|
|Abstract:||© 2015 Informa Healthcare USA, Inc. We report the molecular and hematological feature of a Thai woman who had clinical diagnosis of β-thalassemia intermedia (β-TI). Hemoglobin (Hb) high performance liquid chromatography (HPLC) analysis identified Hb A (64.4%), Hb F (12.3%) and Hb A<inf>2</inf>/E (15.9%) with small peaks of Hb Barts (γ4) and Hb H (β4). She was initially diagnosed as EA Barts disease, which occurs from combination of Hb H disease and Hb E (HBB: c.79G > A) trait. However, the Hb analysis using capillary electrophoresis (CE) demonstrated no Hb E, 68.5% Hb A, 15.5% Hb F and 16.0% Hb A<inf>2</inf>. DNA analysis showed a compound heterozygosity for (β<sup>+</sup>)-31 (A > G) (HBB: c.-81A > G) and (β<sup>0</sup>) codon 17 (A > T) (HBB: c.52A > T) mutations and deletional Hb H (-<sup>SEA</sup>/-α<sup>3.7</sup>). Thus, she was finally diagnosed with a combination of Hb H disease and compound heterozygosity of β<sup>+</sup>/β<sup>0</sup>-thalassemia (β<sup>+</sup>/β<sup>0</sup>-thal). The β-globin mutations could affect not only hematological parameters but also elevate the Hb A<inf>2</inf> levels. These effects could not be ameliorated by the coinheritance of Hb H disease. Therefore, a better understanding of the effects of this combination on hematological analysis data will be useful for providing accurate diagnosis, genetic counseling, prevention and control programs of β-thalassemia major (β-TM).|
|Appears in Collections:||CMUL: Journal Articles|
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