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Biomedical subjects

C Kattamis

Publications and source records attributed to C Kattamis.

At least 91 records · Page 5Linked to original sources
PubMed1982

The clinical phenotype of beta and delta beta thalassemias in Greece.

Based on precise evaluation of hematological findings and clinical manifestations, the relationship between genotype and clinical phenotype was studied in 475 Greek patients with beta and delta beta thalassemias. Almost all known genotypes are included in this series, but the most frequent was homozygous beta th high A2 (71.6%), beta th/beta th silent (7.4%), beta th/delta beta oth high F (6.3%) and beta th/beta th Dutch (6.3%). In general, the phenotype was related to the genotype, though clinical heterogeneity was detected among patients with the same genotype. The severe type of thalassemia major was most commonly found in homozygous beta th patients mainly of beta o/beta o and beta o/beta + genotypes while homozygous beta + patients had milder clinical manifestation. Furthermore a small group of patients, characterized as homozygous beta ++ (HbF less than 30%) had mild thalassemia intermedia. In addition mild thalassemia intermedia was principally related with homozygous delta beta oth, and compound heterozygous beta th/beta th silent I, and less frequently with other genotypes such as compound heterozygous with beta th/beta th Dutch, beta th/beta th silent II, beta th/delta beta oth high F or Lepore. It was shown that precise genetic characterization and clinical evaluation is of primary importance in predicting the prognosis and formulating the proper treatment for the individual patient with thalassemia.

Child↗
PubMed1982

Globin gene mapping in normal Hb A2 types of beta-thalassaemia.

Globin-gene mapping of DNA from 13 families with normal Hb A2 beta-thalassaemia (both type 1 and type 2) failed to detect any difference from normal in their globin-gene arrangement. We conclude that deletions such as those responsible for gamma beta-thalassaemia or a 'silent' Hb Lepore are not responsible for this type of beta-thalassaemia in Greece.

Chromosome Mapping↗
PubMed1982

Prospects, inabilities and achievements in epidemiologic studies on iron deficiency and iron deficiency anemia.

In this review a critical appraisal of the criteria proposed for the diagnosis of iron deficiency and iron deficiency anemia is presented, together with an analytical report on the prevalence of both deficiencies among 3,586 infants, children and adolescents from various areas of Greece. Recent advances in prevention are also discussed, especially for infants and children at puberty, in which the prevalence of iron deficiency anemia was found to be very high.

Adolescent↗
PubMed1981

Genetic and molecular diversity in nondeletion Hb H disease.

Restriction endonuclease mapping of nondeletion alpha-thalassemia determinants from a variety of racial groups showed no detectable abnormalities within a 40-kilobase region of the zeta-alpha globin gene cluster. By using a zeta-specific probe, we defined three different types of interactions that give rise to Hb H disease, each involving a nondeletion alpha-thalassemia haplotype. mRNA analysis showed further diversity within these groups, indicating that there are at least three nondeletion determinations.

Chromosome Deletion↗
PubMed1981

Effectiveness of one tube osmotic fragility screening in detecting beta-thalassaemia trait.

The effectiveness of the one tube method of osmotic fragility with three buffered solutions (0.32% saline, 0.36% saline, and tyrode) as a screening test for beta-thalassaemia trait was evaluated in several groups of subjects from Greece, Yugoslavia, and Thailand. The results clearly demonstrated that 0.36% saline is the most sensitive and effective solution since it could detect 96 to 100% of heterozygotes with beta-thalassaemia, compared to about 80% with both 0.32% saline and tyrode. However, 0.36% saline gave false positive results in normal subjects and was also positive in haematological disorders which influence osmotic fragility. The screening test with 0.36% saline was applied more precisely in 1371 subjects. The test was false positive in 41 (9.1%) of 455 normal subjects while of 438 confirmed heterozygotes with beta-thalassaemia it was positive in 431 (98%) and negative in only seven (2%). The test was also found to be positive in 80% of patients with iron deficiency anaemia and alpha-thalassaemia trait, in 68% of patients with Hb E trait, in 40% of patients with Hb S trait, and in 78% of heterozygotes with rare haemoglobin variants. The increased sensitivity and effectiveness of 0.36% saline in detecting beta-thalassaemia trait and other disorders influencing osmotic fragility as compared to 0.32% saline and tyrode solutions was also confirmed in a study of 384 unselected schoolchildren.

Evaluation Studies as Topic↗
PubMed1980

Haemoglobin Bart's hydrops syndrome in Greece.

A case of haemoglobin Bart's hydrops syndrome was characterised in a Greek family with a history of three other fetuses with hydrops. Family studies showed that both the mother and father carried alpha-thalassaemia genes, and globin-chain synthesis analysis of the present fetus showed a total absence of alpha-chain production. The haemoglobin composition of the fetus was similar to that seen in cases in south-east Asia, and analysis of DNA from the Greek case confirmed the total deletion of the alpha-chain genes. The extent of the deletion, however, differed from that seen in south-east Asian cases and included the loss of one of the embryonic zeta-chain genes. Thus the severe form of alpha-thalassaemia occurs in Greece but has arisen independently from the similar condition in south-east Asia. The condition must be considered in any woman of this racial background who gives a history of unexplained stillbirths.

Adult↗
PubMed1980

Alkaline phosphatase levels in healthy Greek children an adolescents.

Serum alkaline phosphatase (A.P.) activity was assayed in 859 healthy children aged 6-18 years on the island of Euboea, Greece. Normal A.P. values (less than 100 U/l) were found in 673 (78.6%), borderline values (100-120 U/l) in 137 (15.7%) and increased values (greater than 120 U/l) in 49 children (5.7%). In both sexes the highest A.P. levels were observed at the age of 13 years followed by a gradual reduction to adult values at the age of 17 years. In general, A.P. levels were higher in boys (mean 64.4 +/- 23.3 U/l) than in girls (mean 56.3 +/- 21.6 U/l). After summer holidays the A.P. was reinvestigated in 36 children who had had high winter values. The levels had then considerably decreased (p less than 0.001); in all but three cases, A.P. levels had returned to normal. Fifteen children with normal A.P. activity at the time of the first examination were reinvestigated after summer holidays and showed also a decrease in A.P. activity.

Adolescent↗
PubMed1979

The heterogeneity of normal Hb A2-beta thalassaemia in Greece.

Nine patients have been observed with homozygous beta thalassaemia in each of whom one parent has a normal level of Hb A2. On the basis of clinical, haematological and globin chain synthesis studies these families have been divided into two groups. Group 1 (six families). Heterozygotes for normal Hb A2-beta thalassaemia in this group showed minimal red cell abnormalities, normal osmotic fragility but imbalanced globin chain synthesis (alpha/beta=1.6), and appear to correspond to previous descriptions of 'silent' beta thalassaemia. Double heterozygotes with high Hb A2-beta thalassaemia have a clinical picture of mild beta thalassaemia intermedia characterized by relatively low levels of Hb F (less than 20%) and gamma chain synthesis. Group 2 (three families). beta Thalassaemia heterozygotes with normal HbA2 levels in this group showed more marked red cell abnormalities, decreased osmotic fragility and more imbalanced globin chain synthesis (alpha/beta=2.5) than those in group I. Double heterozygotes with high Hb A2-beta thalassaemia are more severely affected and are transfusion dependent. Haemoglobin F and gamma chain synthesis are high in these cases. The frequency of normal Hb A2-beta thalassaemia in Greece may be as high as 10% of all beta thalassaemia genes and this poses a significant problem for genetic counselling. Various molecular mechanisms are discussed which could account for the heterogeneity within these disorders.

Adolescent↗
PubMed1979

Occurrence of G gamma Hb F in Greek HPFH: analysis of heterozygotes and compound heterozygotes with beta thalassaemia.

Haemoglobin F has been isolated from the red cells of individuals with the Greek form of hereditary persistence of fetal haemoglobin (HPFH), and the glycine/alanine composition of the gamma CB3 peptides determined. In contrast to previous reports we have shown that the Hb F of the Greek HPFH heterozygotes contains significant amounts of G gamma chains and circumstantial evidence indicates that these are the products of the same chromosome that carries the Greek HPFH determinant. Hence this chromosome must be directing the synthesis of G gamma, A gamma and (probably) beta and delta chains, thus implying that the Greek form of HPFH does not result from a deletion involving the globin chain structural genes. Analysis of the levels and structure of Hb F from the Greek HPFH heterozygotes and from separated cell populations from the Greek HPFH/beta thalassaemia compound heterozygotes indicate that the Greek HPFH determinant, while allowing an overall increase in gamma chain synthesis, is not the sole factor determining the absolute amount of Hb F production on a cellular basis.

Adult↗
PubMed1979

A comparison of the homozygous states for G gamma and G gamma A gamma delta beta thalassaemia.

One Arabic and two Indian patients with thalassaemia intermedia produce only Hb F for the G gamma type. Haemoglobin synthesis studies and genetic analysis indicate that they are homozygous for G gamma delta beta thalassaemia. The findings in these patients and their heterozygous relatives are compared with those in an individual homozygous for G gamma A gamma delta beta thalassaemia. From this analysis, and from previously reported data on G gamma A gamma delta beta thalassaemia, the phenotypic expression of the two varieties of delta beta thalassaemia is defined. The relationship between the clinical expression and molecular pathology of these forms of delta beta thalassaemia is discussed.

Adolescent↗
PubMed1976

Immunoglobulin levels in children with homozygous beta-thalassemia.

Patients with hereditary hemolytic anaemias have been known to have immunoglobulin alterations related to an increased susceptibility to infection. In the present series, immunoglobulins, G, A and M have been estimated in 50 thalassemic children aged 10 months to 13 years. No significant difference was found in any of the immunoglobulins between patients and age-matched controls. No correlation could be shown between immunoglobulin levels and (a) the severity of anaemia, (b) the degree of hemosiderosis, and (c) the frequency of febrile infections per year. Against clinical impressions patients did not shown any increased susceptibility to infections.

Adolescent↗