Percorrer por autor "Stephanou, Coralea"
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- Analysis of the pilot study of the International Hemoglobinopathy Research Network (INHERENT)Publication . Kountouris, Petros; Stephanou, Coralea; Xenophontos, Maria; Minaidou, Anna; Christou, Sotiroula; Savvidou, Iren; Rekleiti, Anna; Pyrovolaki, Katerina; Constantinou, Natasa; Tshilolo, Leon; Nzengu, F.; Fazili, S.; Brito, MiguelIntroduction: Hemoglobinopathies, including sickle cell disease (SCD) and thalassemia syndromes, represent the commonest monogenic diseases. Although their pathogenesis is well established, the diverse clinical manifestations and their varying degree of severity are less understood and are partly influenced by genetic modifiers. Despite the identification and characterization of genetic modifiers by previous studies, these are, as yet, insufficient to guide treatment recommendations or stratify patients reliably. The International Hemoglobinopathy Research Network (INHERENT) investigates the role of genetic modifiers in hemoglobinopathies, intending to identify and validate further disease modifiers. This pilot study tested the operational feasibility of the INHERENT study across different geographic and healthcare settings and identified and addressed challenges in performing a large, multi-ethnic genome-wide association study (GWAS). Methods: The following steps of the study implementation have been tested: (a) obtaining local bioethics approval based on the applicable local legal framework, (b) patient enrolment, written informed consent, and data collection using a common case report form (CRF), (c) sample collection and shipment, (d) genotyping of globin genes, (e) centralized GWAS experiments, and (f) statistical analysis. The completeness of the collected dataset was also assessed. Results: The pilot study enrolled 1044 patients from 15 centres spanning 8 countries, namely Angola, Cyprus (2), Denmark, DR Congo, Greece (3), Malaysia (3), Nigeria (3), and the USA. An additional 13 centres have obtained bioethics approval, but have not initiated patient enrolment yet. The distribution by disease group is 42.2% SCD and 57.8% thalassemia patients, while the median age is 28 years (mean: 31.1), with 69.6% adult and 30.4% pediatric patients. Data completeness (affirming presence, absence, or not enough data) of key parameters related to medical complications is approximately 85%, while the range of completeness for laboratory parameters was wide, with a maximum at 80%. Notably, a higher rate of cardiac/pulmonary, kidney/liver, endocrinological, and bone complications is observed in adult thalassemia patients, while a higher rate of pain-related and acute anemia complications is observed in pediatric SCD patients. Biological material for 768 of the patients was shared centrally, and GWAS experiments have been performed using the Illumina GSA SNP array. Key challenges identified in the pilot study include: a) the unavailability of key phenotypic data in routine clinical practice in several countries, particularly when the tests are not covered by insurance; b) the need for a more detailed standardization and simplification of the INHERENT CRF to ensure uniform and consistent collection of data across participating centers; c) the unavailability, limited access or high costs of molecular diagnosis services in some countries; d) varying levels of knowledge and technical skills in laboratory work across centers; e) challenges related to the storage, quality and shipping of biological material in some countries. Conclusion: The pilot study tested common standards developed within INHERENT and enabled early identification of key challenges associated with the execution of a large, multi-ethnic study for hemoglobinopathies. The pilot is pivotal for scaling up the INHERENT GWAS across the entire network, enabling the study of a hemoglobinopathy population of unprecedented size and diversity.
- Mapping current and emerging laboratory techniques for haemoglobinopathy carrier detection and prevention: a narrative review from the HELIOS ActionPublication . Yasin, Norafiza Mohd; Chatzimatthaiou, Sotiroula; Perolla, Adela; Blanco Alvarez, Adoracion; Brito, Miguel; El-Kamah, Ghada; Xhetani, Merita; Kountouris, Petros; Stephanou, Coralea; Traeger-Synodinos, JanHaemoglobinopathies remain a major public health challenge, predominantly in endemic regions. Increasing migration has extended their prevalence in previously non-endemic areas, complicating early detection and prevention. As part of the HELIOS CA22119 COST Action Working Group 1, this narrative review critically examines established and emerging laboratory techniques for haemoglobinopathy carrier detection. It also explores diagnostic limitations, regional disparities, and opportunities for global harmonisation to support early detection, prevention, and equitable care. A literature search of MEDLINE, PubMed, Scopus, and EMBASE (2014–2024) identified studies on the screening, diagnosis, and prevention of haemoglobinopathies. Findings were synthesised across three domains: (1) preventive strategies, (2) carrier screening methods, and (3) prenatal diagnostic approaches. Advances in molecular technologies have improved diagnostic sensitivity and specificity. However, conventional haematological approaches, particularly complete blood count and haemoglobin typing, remain essential and cost-effective first-line tools. Key challenges include unequal access to advanced diagnostics and the lack of standardised protocols across regions. Strengthening prevention requires coordinated global efforts to promote accessible, accurate, and standardised diagnostic approaches tailored to regional genomic, economic, and healthcare contexts. Early and equitable carrier detection, combined with effective prenatal diagnosis, is critical to reducing the global burden and improving health outcomes in both endemic and emerging regions.