Catherine Skari

An ICET-A Survey on Occult and Emerging Endocrine Complications in Patients with β-Thalassemia Major: Conclusions and Recommendations

In adult thalassemia major (TM) patients, a number of occult and emerging endocrine complications, such as: central hypothyroidism (CH), thyroid…

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Iron Chelators or Therapeutic Modulators of Iron Overload: Are We Anywhere Near Ideal One?

Iron overload is an important cause of mortality and morbidity in chronic transfusion-dependent states commonly exemplified by transfusion-dependent beta-thalassaemia syndromes…

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Estimating the Birth Prevalence and Pregnancy Outcomes of Congenital Malformations Worldwide

Congenital anomaly registries have two main surveillance aims: firstly to define baseline epidemiology of important congenital anomalies to facilitate programme,…

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Transient Elastography (TE) is a Useful Tool for Assessing the Response of Liver Iron Chelation in Sickle Cell Disease Patients

Sickle cell disease patients often need regular blood transfusions to improve both the quality of life and survival from the…

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Rare Single Gene Disorders: Estimating Baseline Prevalence and Outcomes Worldwide

As child mortality rates overall are decreasing, non-communicable conditions, such as genetic disorders, constitute an increasing proportion of child mortality,…

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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…

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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…

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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…

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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…

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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…

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