Publications
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Prenatal and Preimplantation Diagnosis of Hemoglobinopathies
The hemoglobinopathies, as a group, are one of the most common serious monogenic diseases in the world. An accepted and widely adopted approach to reduce the number of new cases…
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Pre-implantation Genetic Diagnosis
The aim of pre-implantation genetic diagnosis (PGD) is to characterize the genetic status of the cells (usually single cells) that have been biopsied from oocytes/zygotes or embryos created in vitro during assisted reproductive treatment.…
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Cure For Thalassemia Major – From Allogeneic Hematopoietic Stem Cell Transplantation To Gene Therapy
Allogeneic hematopoietic stem cell transplantation has been well established for several decades as gene replacement therapy for patients with thalassemia major, and now offers very high rates of cure for…
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Preconception Carrier Screening and Prenatal Diagnosis in Thalassemia and Hemoglobinopathies: Challenges and Future Perspectives
Introduction: Hemoglobinopathies constitute the most common severe monogenic disorders worldwide, with an increasing global burden each year. The benefit of applying programmes for preconception carrier screening, with the option of…
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Modeling the Complex Activity of Sickle Cell and Thalassemia Specialist Nurses in England
Specialist advanced practice nursing in hemoglobinopathies has a rich historical and descriptive literature. Subsequent workhas shown that the role is valued by patients and families and also by other professionals.…
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A Guide for the Haemoglobinopathy Nurse
The Thalassaemia International Federation (TIF) is dedicated to ensuring that patients everywhere have access to quality health care. By focusing on the role of the nurse in the care of…
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Potentially Curative Approaches for β-Thalassaemia (2021)
A comprehensive infographic with a head-to-head comparison on the most essential aspects of BMT, Gene Therapy & Gene Editing as potentially curative procedures for patients with β-thalassaemia.
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Explaining Gene Therapy in Thalassaemia (2020)
The second educational brochure from the TIF’s ‘Gene Therapy’ booklet series, providing an in-depth view of how this revolutionary therapy works in patients with β-thalassaemia major.
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Prevention of Inherited Diseases – The Example of β-Thalassaemia (2020)
An educational brochure explaining the inheritance patterns of β-thalassaemia and the choices available for an ”at-risk” couple to have a child without the disease.
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COVID-19 & Haemoglobin Disorders: Compilation of Information for Sickle Cell Disease (2020)
This document compiles information about the coronavirus pandemic specifically addressed to patients with sickle cell disease (SCD).
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