The first case of Hb E-Saskatoon associated with Hb Lepore-Baltimore found in Spain.
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.
Ropero
Paloma
P
Servicio de Hematología y Hemoterapia del Hospital Clínico San Carlos, Madrid, Spain.
Murga
Maria José
MJ
González
Fernando A
FA
Polo
Marta
M
Benavente
Celina
C
Salvador
María
M
Villegas
Ana
A
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
D006455:Hemoglobins, Abnormal; C037468:hemoglobin Lepore Baltimore; D006446:Hemoglobin E; C052830:hemoglobin E Saskatoon