Rare Diseases Symptoms Automatic Extraction

[Association between hemoglobin Groene Hart and hemoglobin J-Paris-I: First case in Spain.]


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 CCTTCT (ProSer) 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.