在一个西班牙家庭中发现的血红蛋白萨勒堡[β131(H9)谷氨酰胺→精氨酸(CAG→CGG)]的血液学和分子特征。
Hematological and molecular characteristics of Hb Sarrebourg [beta131(H9)Gln-->Arg (CAG-->CGG)] found in a Spanish family.
作者信息
Beneitez Pastor David, Carrera Alícia, Duran-Suárez Joan Ramón, Pastor Maria Antonia Durán, Vinent Federico Alvarez, Melich Carmen
机构信息
Unitat d'Anèmies i Eritropatologia, Hematologia, Laboratoris Clínics, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
出版信息
Hemoglobin. 2007;31(2):183-5. doi: 10.1080/03630260701286082.
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.
我们报告了在一个西班牙家庭的九名成员中发现的血红蛋白Sarrebourg [β131(H9)谷氨酰胺→精氨酸（CAG→CGG）]的血液学和分子特征。所有携带者均为该变异的杂合子，血液学检查正常。到目前为止，这种血红蛋白（Hb）变异仅在一名土耳其裔男孩中被报道过一次。
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