Hematological and molecular characteristics of Hb Sarrebourg [beta131(H9)Gln-->Arg (CAG-->CGG)] found in a Spanish family.
We report the hematological and molecular characteristics of Hb Sarrebourg [beta131(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.
Beneitez Pastor
David
D
Unitat d'Anèmies i Eritropatologia, Hematologia, Laboratoris Clínics, Hospital Universitari Vall d'Hebron, Barcelona, Spain. dbeneite@vhebron.net
Carrera
Alícia
A
Duran-Suárez
Joan Ramón
JR
Pastor
Maria Antonia Durán
MA
Vinent
Federico Alvarez
FA
Melich
Carmen
C
D019943:Amino Acid Substitution; D001216:Asparagine; D005260:Female; D005914:Globins / Q000235:genetics; D005973:Glutamine; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D013030:Spain
D006455:Hemoglobins, Abnormal; C521046:hemoglobin Sarrebourg; D005973:Glutamine; D001216:Asparagine; D005914:Globins