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Biomedical subjects

L Svirklys

Publications and source records attributed to L Svirklys.

5 recordsLinked to original sources
PubMed1988

Thai (delta beta)0-thalassemia and its interaction with gamma-thalassemia.

A variant of Southern Italian (delta beta)0-thalassemia is described in a women of Thai origin. The 3' breakpoint in Thai (delta beta)0-thalassemia is located about 1 kb upstream to that in Southern Italian (delta beta)0-thalassemia and produces a smaller deletion of approximately equal to 12.5 kb. Hematological phenotype, particularly Hb F output, is similar to that found in G gamma A gamma(delta beta)0-thalassemia despite the presence of a coexistent gamma-thalassemia effect.

Chromosome Deletion↗
PubMed1986

(delta beta) zero thalassemia of the Southern Italian type. Its geographical origin and interaction with the sickle cell gene.

Hematological phenotypes and molecular defects were compared in 11 examples of heterozygous (delta beta) zero thalassemia. Despite differences in ethnic origins all cases had the gene deletion that is found in (delta beta) zero thalassemia of the Southern Italian type. HbF levels in these patients ranged from 3.6-14.6% with a mean +/- 1 SD of 8.9 +/- 3.1%. Variability in HbF output would suggest that additional factor(s) apart from deletions within the beta globin complex are involved in regulation of gamma gene expression. One individual, a compound-heterozygote for (delta beta) zero thalassemia and HbS, presented with a sickling disorder. Reduced HbF production in family members who are heterozygotes for (delta beta) zero thalassemia may explain the clinical picture in this instance.

Adult↗
PubMed1985

A factor IX gene probe: its use in carrier detection, antenatal diagnosis and characterisation of the molecular basis for hemophilia B.

Of hemophilia B carriers, 67% were shown to have informative restriction fragment length polymorphisms (Taq I or Xmn I) associated with the factor IX gene. Analysis of DNA for these polymorphisms can enable the detection of the hemophilia B carrier state in females and of hemophilia B in the male fetus in the first trimester. Extensive mapping of the factor IX gene in one hemophiliac who developed antibodies to factor IX failed to detect structural abnormalities in his gene. A non-deletional basis for hemophilia B is proposed in this instance.

Chromosome Mapping↗