Hematological and Molecular Characteristics of Hb Sarrebourg [β131(H9)Gln→Arg (CAG→CGG)] Found in a Spanish Family

David Beneitez Pastor Unitat d'Anèmies i Eritropatologia, Hematologia, Laboratoris Clínics, Hospital Universitari Vall d'Hebron, Barcelona, SpainCorrespondence[email protected]

Alícia Carrera Unitat d'Anèmies i Eritropatologia, Hematologia, Laboratoris Clínics, Hospital Universitari Vall d'Hebron, Barcelona, Spain

Joan Ramón Duran-Suárez Unitat d'Anèmies i Eritropatologia, Hematologia, Laboratoris Clínics, Hospital Universitari Vall d'Hebron, Barcelona, Spain

Maria Antonia Durán Pastor Servicio de Hematología y Hemoterapia, Hospital Son Dureta, Palma de Mallorca, Spain

Federico Álvarez Vinent Servicio de Hematología y Hemoterapia, Hospital Son Dureta, Palma de Mallorca, Spain

Carmen Melich Diplomada Infermeria, Unitat d'Anèmies i Eritropatologia, Hematologia, Hospital Universitari Vall d'Hebron, Barcelona, Spain

Abstract

We report the hematological and molecular characteristics of Hb Sarrebourg [β131(H9)Gln→Arg (CAG→CGG)] found in nine members of a Spanish family. All the carriers were heterozygous for the variant and hematologically normal. Up to now this hemoglobin (Hb) variant has only been reported once before, in a boy of Turkish origin.

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Hematological and Molecular Characteristics of Hb Sarrebourg [β131(H9)Gln→Arg (CAG→CGG)] Found in a Spanish Family

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Hematological and Molecular Characteristics of Hb Sarrebourg [β131(H9)Gln→Arg (CAG→CGG)] Found in a Spanish Family

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