Christiana Makariou

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β-thalassaemia is one of the commonest autosomal recessive single-gene disorders worldwide. Prenatal tests use invasive methods, posing a risk for the pregnancy itself. Development of a noninvasive prenatal diagnostic method is, therefore, of paramount importance. The aim of the present study is to identify high-heterozygote informative single-nucleotide(More)
Sirs, The idiopathic nephrotic syndrome is a common clinicopathological entity characterized by massive proteinuria, hypoalbuminaemia, hyperlipidaemia, oedema, and various glomerular changes, occurring mainly in children in 15– 20% of whom the condition is steroid-resistant. About 85% of patients with steroid-resistant nephrotic syndrome (SRNS) exhibit(More)
To help clarify the hematological picture of patients who may be positive for beta- and delta-globin gene mutations, the following study was carried out. Our aim was to identify the delta-globin gene mutations found in the Greek Cypriot population, their frequencies and the Hb A2 values associated with them. Seventy-four samples were selected from a random(More)
Dear Editor, Detection of HbA2 levels is central to the diagnosis of thalassemias, so that identification of δ-globin alleles in a population is critical to national disease prevention and control [1]. Here, we report a novel δ-globin gene variant, HbA2[δN19K] or Hb Famagusta, distinguishable from normal δ-globin by high-performance liquid chromatography(More)
Haemoglobinopathies are the most common monogenic diseases, posing a major public health challenge worldwide. Cyprus has one the highest prevalences of thalassaemia in the world and has been the first country to introduce a successful population-wide prevention programme, based on premarital screening. In this study, we report the most significant and(More)
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