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Hemoglobin
international journal for hemoglobin research
Volume 29, 2005 - Issue 3
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Short Communication

The First Case of Hb E-Saskatoon Associated with Hb Lepore-Baltimore Found in Spain

Paloma Ropero Servicio de Hematología y Hemoterapia del Hospital Clínico San Carlos, Madrid, Spain
,
Maria José Murga Servicio de Hematología y Hemoterapia del Hospital Virgen de la Salud de Toledo, Toledo, Spain
,
Fernando A. González Servicio de Hematología y Hemoterapia del Hospital Clínico San Carlos, Madrid, Spain
,
Marta Polo Servicio de Hematología y Hemoterapia del Hospital Clínico San Carlos, Madrid, Spain
,
Celina Benavente Servicio de Hematología y Hemoterapia del Hospital Clínico San Carlos, Madrid, Spain
,
María Salvador Servicio de Hematología y Hemoterapia del Hospital Clínico San Carlos, Madrid, Spain
&
Dra. Ana Villegas Servicio de Hematología y Hemoterapia del Hospital Clínico San Carlos, Madrid, SpainCorrespondence[email protected]
 show all
Pages 215-219 | Received 22 Dec 2004, Accepted 18 Jan 2005, Published online: 07 Jul 2009
 
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Abstract

Hb E-Saskatoon [β22(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 β-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.

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