Hemoglobin Lepore EF Bart’s disease: a molecular, hematological, and diagnostic aspects

• Published in: Annals of hematology 2011-11, Vol.90 (11), p.1337-1340
• Main Authors: Chaibunruang, Attawut, Fucharoen, Goonnapa, Jetsrisuparb, Arunee, Fucharoen, Supan
• Format: Article
• Language: English
• Subjects: alpha-Thalassemia - blood; alpha-Thalassemia - diagnosis; alpha-Thalassemia - genetics; Child, Preschool; Female; Genotype; Hematology; Hemoglobin E - genetics; Hemoglobin E - metabolism; Hemoglobins, Abnormal - genetics; Hemoglobins, Abnormal - metabolism; Humans; Medicine; Medicine & Public Health; Mutation; Oncology; Original Article; Thailand
• ISSN: 0939-5555; 1432-0584
• DOI: 10.1007/s00277-011-1173-8

We report the molecular basis and hematological phenotype associated with a hitherto undescribed interaction of hemoglobin (Hb) Lepore–Hollandia, Hb E and a deletion of three α-globin genes found in a 3-year-old Thai girl. She had mild anemia with Hb 10.9 g/dl and Hct 35.9% and had never received blood transfusion. Hb analysis revealed Hb E (22.1%) with a normal level of Hb A 2 (1.9%), unusually elevated Hb F (65.9%), Hb Lepore (4.0%), and 5.4% Hb Bart’s. Globin gene analyses demonstrated that she carried the Hb Lepore–Hollandia mutation in trans to the Hb E and a compound heterozygosity for α 0 -thalassemia (SEA deletion) and α + -thalassemia (3.7 kb deletion), leading to the Hb Lepore EF Bart’s disease. Hematological data and diagnostics using combined Hb-HPLC, capillary electrophoresis, and PCR analysis of this condition were presented and compared with those of the patients with other forms of EF Bart's disease and EE Bart's disease in our series.