The organization of an educational program for specialists in clinical chemistry by the Greek Society of Clinical Chemistry-Clinical Biochemistry.

In Greece, there is no officially organized training in clinical chemistry for scientists. The Greek Society of Clinical Chemistry-Clinical Biochemistry decided to organize an intensive educational program of 18 seminars on clinical chemistry content as it is described in the EC4 Syllabus. The duration of each seminar was about 6 hours and consisted of 6 to 9 lectures. At the end of each seminar there was a voluntary written examination, comprised of 24 multiple choice questions. Successful completion of the Educational program was leading to a Certificate of Competence. Two cycles of the 18 seminars were performed: 1st cycle from October 2003 to December 2005 and 2nd cycle from March 2005 to October 2007. One hundred eighty nine colleagues was the mean attendance per seminar for the seminars of the 1st cycle and 38 colleagues for the seminars of the 2nd cycle. The mean participation to the examination for each seminar was almost 80% for the 1st cycle and 68% for the 2nd cycle. More than 80% of the participants performed Good or Very good in the examination in both cycles. It is estimated that more than 40% of the scientists who practice Clinical Chemistry in Greece, participated to this educational activity. This program is now provided as an e-learning application, and it is open for all scientists who want to follow the discipline of clinical chemistry.

The Greek way to the Register: the establishment and operation of the Register for Clinical Chemists-Clinical Biochemists in Greece.

In Greece, there is no officially organized training in clinical chemistry for scientists. The Greek Society of Clinical Chemistry-Clinical Biochemistry (GSCC-CB), following the encouragement of the EC4/RC decided to organize a voluntary Register for specialists in clinical chemistry. The following criteria for registration were defined: 1) University degree in Chemistry, Biochemistry, Biology, Medicine, Pharmacy or other relevant subject. 2) A total of 9 years of university studies and postgraduate specialization in clinical chemistry-clinical biochemistry. 3) A minimum of 4 years of postgraduate specialization in clinical chemistry-clinical biochemistry on the job. 4) The candidate must be practicing clinical chemistry-clinical biochemistry in a laboratory in a medical environment in Greece. The postgraduate specialization in clinical chemistry-clinical biochemistry includes the laboratory training and the theoretical education. The laboratory training is organized by the GSCC-CB according to the Professional Training Dossier. The theoretical education was organized in a series of 18 "Seminars" which was the content of the "Educational program" of the GSCC-CB. Successful completion of the Educational program leads to a Certificate of Competence. The Greek Register has gained equivalence with the EC4 Register and it has 218 members, more than 80 of whom are European clinical chemists.

Carrier screening and prenatal diagnosis of hemoglobinopathies. A study of indigenous and immigrant couples in northern Greece, over the last 5 years.

Hemoglobinopathies constitute the most frequent monogenic disorders worldwide and thalassemias are the most frequent genetic disorders in Greece. Over a 5-year period (2002-2006), 1,375 couples were screened for hemoglobinopathies and counseled at our Thalassaemia Prevention Unit, Hippokration Hospital, Thessaloniki, Greece. In 148 cases (10.7%), both partners carried an abnormal hemoglobin (Hb) gene and genetic counseling was offered. One hundred out of 116 pregnancies were at-risk of giving birth to an offspring carrying either the homozygous or double heterozygous forms of the mutations under discussion. The remaining 16 pregnancies involved couples who were heterozygous for mutations that did not cause severe clinical disease, and were exempted from prenatal diagnosis. Twenty-six fetuses were found to be homozygotes or double heterozygotes for clinically significant mutations. These couples were informed of the danger of having an affected child but the termination or continuation of the pregnancy was left to the couples to decide. Nevertheless, all the couples preferred to terminate the pregnancies. The National Thalassaemia Prevention Programme has effectively decreased the incidence of thalassemia major and sickle cell syndromes in Greece.

G gamma-196 C-->T, A gamma-201 C-->T: two novel mutations in the promoter region of the gamma-globin genes associated with nondeletional hereditary persistence of fetal hemoglobin in Greece.

The increased level of fetal hemoglobin in nondeletional hereditary persistence of fetal hemoglobin (nd-HPFH) is associated with several single base substitutions in the promoter region of either the (G)gamma- or the (A)gamma-globin genes. In this study, we report two new forms of nd-HPFH found in two unrelated Greek adults with high HbF production (8.6% and 10.2% respectively) and positive for the (G)gamma-158 C-->T substitution. Scanning by DGGE analysis and direct sequencing of the gamma-globin gene 5' promoter region revealed the presence of a (G)gamma-196 C-->T in the first case and an (A)gamma-201 C-->T in the second. These mutations seem to reactivate gamma-genes and cause their high expression in the adult period.

The molecular heterogeneity of beta-thalassemia in Greece.

Beta-thalassemia is the most predominant genetic defect in Greece. In this study, we investigated the heterogeneity and the frequency of beta-thalassemia mutations among 3796 heterozygotes detected in the course of DNA based diagnoses. The diagnostic strategy included Denaturing Gradient Gel Electrophoresis (DGGE), Allele Specific Oligonucleotide Hybridization (ASO), GAP PCR, Restriction Enzyme (RE) analysis and direct sequencing and led to 100% identification of the underlying molecular lesion. Six out of 33 different beta-globin defects identified accounted for more than 91.4% of the total beta-thalassemia chromosomes in Greece. The beta-globin gene mutations cd29 C-->T, IVS-I-2 T-->C, IVS-I-5 G-->T, cd37 G-->A and poly A Kurdish AATAAA-->AATAAG are for the first time reported in Greece, whereas cd7 GAG-->TAG is a new beta(0)-thalassemia mutation detected in an adult man from Albania residing in Greece. Three DNA single nucleotide polymorphisms (IVS-I-85 T-->C, IVS-I-91 C-->T and IVS-I-108 T-->C) were also revealed; among these, IVS-I-85 T-->C and IVS-I-91 C-->T are new and described for the first time worldwide.

Hemoglobin E-Saskatoon and pregnancy: report of two cases.

Hemoglobin E-Saskatoon (beta22-Glu-Lys) is found worldwide but is extremely rarely. Two cases of pregnant women who carried the abnormal hemoglobin and the various problems that arise from it are reported. A discussion of the combinations with other abnormal hemoglobin is also presented.