title: [Association between hemoglobin Groene Hart and hemoglobin J-Paris-I: first case in Spain].
abstract: OBJECTIVE
  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.
  
  
  METHODS
  Twenty-four patients from 17 unrelated families were included in this study. The characterization was done by sequencing.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors: Servicio de Hematología, Hospital Clínico San Carlos, Madrid, España. Electronic address: felixfuenteg@hotmail.com.
authors: Félix
authors: F
authors: de la Fuente-Gonzalo
authors: Servicio de Hematología, Hospital Clínico San Carlos, Madrid, España.
authors: Paloma
authors: P
authors: Ropero
authors: Servicio de Hematología, Hospital Clínico San Carlos, Madrid, España.
authors: Jorge
authors: J
authors: Martínez-Nieto
authors: Servicio de Hematología, Hospital Clínico San Carlos, Madrid, España.
authors: Ana
authors: A
authors: Villegas
authors: Servicio de Hematología, Hospital Clínico San Carlos, Madrid, España.
authors: Fernando A
authors: FA
authors: González
authors: Servicio de Hematología, Hospital Clínico San Carlos, Madrid, España.
authors: Joaquín
authors: J
authors: Díaz-Mediavilla
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005819:Genetic Markers; D006448:Hemoglobin J / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D013030:Spain; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C475066:hemoglobin Groene Hart; D006448:Hemoglobin J; C049661:hemoglobin J-Paris
keywords: Alfatalasemia no deleción; Hemoglobinopatías hiperinestables; Hyperunstable hemoglobinopathies; Marruecos; Morocco; Non deletional alpha-thalassemia; Spanish; español