A Swedish haemoglobin variant.
Explore the source record for details and available documents.
Electrophoresis↗
Biomedical subjects
D Loukopoulos
Publications and source records attributed to D Loukopoulos.
Prenatal diagnosis of thalassaemia by haemoglobin chromatography on Biorex. An evaluation of the method.
The applicability of the chromatographic separation of haemoglobin F, A and S on Biorex 70 ( Blouquit et al., 1982) for the prenatal diagnosis of thalassaemia and related conditions was evaluated in comparison to the conventional globin chain separation technique. The method proved reliable, inexpensive and rapid and should be considered as a valuable alternative in laboratories carrying out great numbers of tests and those being newly set up for this purpose.
Cation Exchange Resins↗
Selective survival of only the healthy fetus following prenatal diagnosis of thalassaemia major in binovular twin gestation.
Selective feticide is the procedure of choice when, in twin binovular pregnancy, only one of the fetuses is shown to be affected. As the probabilities for this condition are almost 1:2 when the genetic disease is due to homozygosity for two autosomal recessive genes, the problem is expected to occur frequently among the ever increasing number of couples seeking prenatal diagnosis of thalassaemia and the haemoglobinopathies. The present report is the first case of this condition and the ninth in the overall medical literature.
Abortion, Eugenic↗
Linkage to chromosome 1q in Greek families with juvenile hemochromatosis.
Hereditary hemochromatosis (HH) is a genetically heterogeneous disease. The HFE gene resides on chromosome 6 and its mutations account for the majority of HH cases in populations of northern European ancestry. Recently, two new types of hemochromatosis have been identified: Juvenile hemochromatosis (JH or HFE2), which maps to chromosome 1q21, and an adult form defined as HFE 3, which results from mutations of the TFR 2 gene, located at 7q22. We have performed a linkage study in five unrelated families of Greek origin with non-HFE hemochromatosis. Linkage at the chromosome 1q21 JH locus was detected in affected members with the use of polymorphic markers. Comparison of haplotypes between Greek and Italian JH patients revealed the presence of a common haplotype. However, the fact that many other haplotypes carrying the JH defect were observed in the two populations indicates that the respective mutations may have occurred in different genetic backgrounds. We suggest that hemochromatosis patients without HFE mutations should be evaluated for other possible types of hemochromatosis since hemochromatosis type 3 (HFE3) has a clinical appearance similar to HFE 1, and JH may have a late onset in some cases.
Adult↗
Genetic heterogeneity underlies juvenile hemochromatosis phenotype: analysis of three families of northern Greek origin.
Hereditary hemochromatosis is a genetically heterogeneous disease. Common HFE mutations (C282Y and H63D) are related to the majority of hereditary hemochromatosis cases in populations of Northern European ancestry (HFE1). Juvenile hemochromatosis (JH) is a more severe iron overload disorder, usually presenting at the second decade of life. The gene responsible for JH lies on a genetic locus at chromosome 1q. We have performed a genetic linkage study in three families of Northern Greek origin with typical clinical features of JH. In two families results were in accordance with linkage to chromosome 1q. In one family linkage of the disease to the genetic loci at 1q21, 7q22, and 6p22 was excluded. We suggest that more than one gene may underlie the JH phenotype. This genetic type of hemochromatosis may be designated 1q unlinked juvenile hemochromatosis. Family studies are necessary to establish the genetic diagnosis of JH.
Adult↗
Beta-thalassaemia mutations and the underlying beta gene cluster haplotypes in the Greek population.
The polymorphic sites across the beta gene cluster (restriction haplotypes) in association with specific thalassaemic mutations were analyzed in representative samples of normal and thalassaemic Greeks in comparison to similar data of other populations around the mediterranean basin. We studied 316 normal chromosomes, 218 chromosomes from patients with thalassaemia major and 72 chromosomes from patients with thalassaemia intermedia. In the former group, haplotype frequencies followed the order I, IX, II, V etc.. In the group of patients with transfusion-dependent thalassaemia the order was I, II, V and VI, while in those with thalassaemia intermedia the most frequent haplotypes were I and VI. The frequency of haplotypes I and VI was higher among the thalassaemic chromosomes in comparison to those of the normal population; haplotype IX showed the inverse relation. These findings imply that the thalassaemic mutations occurred at a very early stage on haplotypes I and VI and much later on haplotype IX. Micromapping did not reveal any significant variations. Haplotypes I, II, V and VI were associated with the molecular defects IVS-1 nt 110, beta zero-39, IVS-1 nt 1 and IVS-1 nt 6 respectively. A number of other mutations were also identified. The molecular defect was identified also on a random sample of beta-thalassaemia carriers (424 chromosomes). On the basis of the overall data, the feasibility of prenatal diagnosis of thalassaemia by allele specific hybridization is ca. 80%, with the four most common oligomers and 95% when the set of probes expands to eight.
Alleles↗
Recovery of carbimazole-induced agranulocytosis following recombinant granulocyte-macrophage colony stimulating factor (rhGM-CSF) administration.
A 56 year old female patient treated with carbimazole for hyperthyroidism developed agranulocytosis complicated by pneumonia. She was treated by sc administration of 6 micrograms/kg rhGM-CSF for 10 days. The first neutrophils appeared in the peripheral blood on the 4th day and normal numbers are reached on the 7th day of treatment. This was accompanied by a rapid resolution of fever. The use of growth factors may be justified in cases of drug-induced agranulocytosis.
Agranulocytosis↗
Deferoxamine treatment during early pregnancy: absence of teratogenicity in two cases.
We report two cases of transfusion-dependent thalassemia treated by deferoxamine during the first trimesters of two successful pregnancies. The absence of any sign(s) of toxicity or teratogenicity is remarkable; despite the data from animal models, it seems that deferoxamine in humans is rather harmless for the fetus at the usually recommended doses.
Abnormalities, Drug-Induced↗