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

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,...

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Published inHemoglobin Vol. 31; no. 2; pp. 183 - 185
Main Authors Beneitez Pastor, David, Carrera, Alícia, Duran-Suárez, Joan Ramón, Durán Pastor, Maria Antonia, Álvarez Vinent, Federico, Melich, Carmen
Format Journal Article
LanguageEnglish
Published England Informa UK Ltd 01.01.2007
Taylor & Francis
Subjects
Amino Acid Substitution
Asparagine
Compound heterozygosity
Female
Globins - genetics
Glutamine
Hb Sarrebourg
Hemoglobins, Abnormal - genetics
Humans
Male
Pedigree
Polymorphism, Single Nucleotide
Spain
Spanish
Spain
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Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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ISSN:0363-0269
1532-432X
DOI:10.1080/03630260701286082