HB Puerta del Sol [HBA1:c.148A>C], HB Valdecilla [HBA2:c.3G>T], HB Gran Vía [HBA2:c.98T>G], HB Macarena [HBA2:c.358C>T] and HB El Retiro [HBA2:c.364_366dupGTG]: description of five new hemoglobinopathies
Rattachement africain : es. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
BACKGROUND: Structural hemoglobinopathies do not usually have a clinical impact, but they can interfere with the analytical determination of some parameters, such as the glycated hemoglobin in diabetic patients. Thalassemias represent a serious health problem in areas where their incidence is high. The defects in the post-translational modifications produce hyper-unstable hemoglobin that is not detected by most of electrophoretic or chromatographic methods that are available so far. METHODS: We studied seven patients who belong to six unrelated families. The first two families were studied because they had peak abnormal hemoglobin (Hb) during routine analytical assays. The other four families were studied because they had microcytosis and hypochromia with normal HbA2 and HbF without iron deficiency. HbA2 and F quantification and abnormal Hb separation were performed by chromatographic and electrophoretic methods. The molecular characterization was performed using specific sequencing. RESULTS: The Hb Puerta del Sol presents electrophoretic mobility and elution in HPLC that is different from HbA and similar to HbS. The electrophoretic and chromatographic profiles of the four other variants are normal and do not show any anomalies, and their identification was only possible with sequencing. CONCLUSIONS: Some variants, such as Hb Valdecilla, Hb Gran Vía, Hb Macarena and Hb El Retiro, have significant clinical impact when they are associated with other forms of α-thalassemia, which could lead to more serious forms of this group of pathologies as for HbH disease. Therefore, it is important to maintain an adequate program for screening these diseases in countries where the prevalence is high to prevent the occurrence of severe forms.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé, mais le titre doit être comparé manuellement.
- Titre Crossref
- HB Puerta del Sol [HBA1:c.148A>C], HB Valdecilla [HBA2:c.3G>T], HB Gran Vía [HBA2:c.98T>G], HB Macarena [HBA2:c.358C>T] and HB El Retiro [HBA2:c.364_366dupGTG]: description of five new hemoglobinopathies
- Date Crossref
- 01/01/2016
- Éditeur
- Walter de Gruyter GmbH
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Hospital Clínico San Carlos Servicio de Hematología pays non établi dans la noticeÉtablissement de santé
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Hospital Universitario Infanta Sofía pays non établi dans la noticeÉtablissement de santé
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Hospital General Universitario Gregorio Marañón pays non établi dans la noticeÉtablissement de santé
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Marqués de Valdecilla University Hospital pays non établi dans la noticeÉtablissement de santé
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Hospital Universitario Virgen Macarena pays non établi dans la noticeÉtablissement de santé
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Hospital Infanta Sofía Laboratorio BR-Salud pays non établi dans la noticeÉtablissement de santé
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Hospital Universitario Gregorio Marañón Servicio de Pediatría pays non établi dans la noticeÉtablissement de santé
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Hospital Universitario Marqués de Valdecilla Servicio de Hematología pays non établi dans la noticeÉtablissement de santé
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Hospital Virgen de la Macarena Servicio de Oncohematología Pediatrica pays non établi dans la noticeÉtablissement de santé
Servicio de Hematología — Hospital Clínico San Carlos, Hospital Universitario Infanta Sofía et Hospital General Universitario Gregorio Marañón, avec 6 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.