title: The first case of Hb E-Saskatoon associated with Hb Lepore-Baltimore found in Spain.
abstract: Hb E-Saskatoon [beta22(B4)Glu-->Lys] does not cause any clinical symptoms in the heterozygous state. The homozygous state shows moderate phenotype expression. It has also been detected in association with beta-thalassemia. We present the first case of Hb E-Saskatoon associated with Hb Lepore-Baltimore. This unusual combination of mutations does not aggravate the clinical picture, as only microcytosis and hypochromia have been observed. Hb E-Saskatoon can only be correctly characterized by ion exchange high performance liquid chromatography (HPLC) or by DNA sequencing.
authors.affiliation: Servicio de Hematología y Hemoterapia del Hospital Clínico San Carlos, Madrid, Spain.
authors.forename: Paloma
authors.initials: P
authors.lastname: Ropero
authors.forename: Maria José
authors.initials: MJ
authors.lastname: Murga
authors.forename: Fernando A
authors.initials: FA
authors.lastname: González
authors.forename: Marta
authors.initials: M
authors.lastname: Polo
authors.forename: Celina
authors.initials: C
authors.lastname: Benavente
authors.forename: María
authors.initials: M
authors.lastname: Salvador
authors.forename: Ana
authors.initials: A
authors.lastname: Villegas
mesh_terms: D000328:Adult; D000747:Anemia, Hypochromic / Q000097:blood / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D002852:Chromatography, Ion Exchange; D004252:DNA Mutational Analysis; D005260:Female; D006446:Hemoglobin E / Q000032:analysis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D013030:Spain
chemical_list: D006455:Hemoglobins, Abnormal; C037468:hemoglobin Lepore Baltimore; D006446:Hemoglobin E; C052830:hemoglobin E Saskatoon