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

doi:10.1007/s00277-011-1173-8

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Article

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

Annals of hematology - 1 Nov 2011

Chaibunruang Attawut, Fucharoen Goonnapa, Jetsrisuparb Arunee, Fucharoen Supan

Abstract excerpt

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...

Topics

Child, Preschool
Female
Genotype
Hemoglobin E
Hemoglobins, Abnormal
Humans
Mutation
Thailand
alpha-Thalassemia

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Open in PubMed

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PMID: 21302111
DOI: 10.1007/s00277-011-1173-8

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