de la Fuente-Gonzalo Félix, Ropero Paloma, Martínez-Nieto Jorge, Villegas Ana, González Fernando A, Díaz-Mediavilla Joaquín
Servicio de Hematología, Hospital Clínico San Carlos, Madrid, España.
Servicio de Hematología, Hospital Clínico San Carlos, Madrid, España.
Med Clin (Barc). 2015 Mar 9;144(5):212-5. doi: 10.1016/j.medcli.2013.10.026. Epub 2014 Feb 11.
Thalassemias are the most frequent monogenic disorder around the world. α-thalassemias are due to a deficiency of synthesis in the alpha-globin chain of the hemoglobin (Hb). Hb Groene Hart is a hyperunstable variant. In this work, we have studied 24 cases affected by Hb Groene Hart, one of them associated with Hb J-Paris-I.
Twenty-four patients from 17 unrelated families were included in this study. The characterization was done by sequencing.
α1 gene sequencing showed the mutation CCT→TCT (Pro→Ser) at codon 119 (Hb Groene Hart) in all patients. In one case, there was an association with Hb J-Paris-I.
In the Hb Groene Hart, the residue 119 of alpha-globin chain is affected. This amino acid has a key role in preserving the stability of alpha-globin chain. It is also remarkable the presence of this variant in both the immigrant and native population. Thus, the identification of Hb Groene Hart carriers should be considered in the screening of α-thalassemia in Spain, as it is done in Northern Africa.
地中海贫血是全球最常见的单基因疾病。α地中海贫血是由于血红蛋白（Hb）α珠蛋白链合成不足所致。Hb Groene Hart是一种高度不稳定的变异体。在本研究中，我们对24例受Hb Groene Hart影响的病例进行了研究，其中1例与Hb J-Paris-I相关。
本研究纳入了来自17个无关家庭的24例患者。通过测序进行特征分析。
所有患者的α1基因测序均显示在第119密码子处存在CCT→TCT（脯氨酸→丝氨酸）突变（Hb Groene Hart）。在1例患者中，其与Hb J-Paris-I相关。
在Hb Groene Hart中，α珠蛋白链的第119位残基受到影响。该氨基酸在维持α珠蛋白链的稳定性方面起关键作用。同样值得注意的是，这种变异体在移民和本地人群中均有存在。因此，在西班牙的α地中海贫血筛查中，应像在北非那样考虑对Hb Groene Hart携带者进行鉴定。
