Thalassaemia in Azerbaijan.

beta thalassaemia is present throughout the southern regions of the former USSR. We have defined the clinical picture of the disorder, the spectrum of beta thalassaemia mutations, and the role of customary consanguineous marriage in Azerbaijan, where thalassaemia presents a public health problem of the same order as that in Greece. Contrary to earlier suggestions, we found that the common form of the disorder is typically severe.

[DNA diagnosis of beta-thalassemia. Study of restriction fragment length polymorphisms in families with affected children].

A kit of DNA-probes directed at the cluster of human beta-globulin genes was used to study the incidence rate of 7 polymorphic restriction sites in beta-thalassemia patients and normal donors in the Azerbaijan SSR. Informative polymorphic sites Hind III were detected in GJ and AJ fetal globin genes, Hinc II in psi beta and Hinc III in 3' area of psi beta gene and Ava II in beta-globine gene differing in the incidence rate in the patients and donors. An analysis of haplotypes with respect to informative sites was made in two Azerbaijan families with an affected child.

[The echocardiographic characteristics of cardiac lesions in beta-thalassemia].

The authors submit the results of clinicoechocardiographic investigations of 35 patients with beta-thalassemia aged from 4 to 37 years of whom 23 patients were with acute beta-thalassemia, 6 with an intermediary form and 6 with a heterozygotic form of the disease. Various echocardiographic changes were observed in patients with acute and intermediary forms of beta-thalassemia, i.e.

Molecular nature of mutations causing beta zero-thalassaemia in Azerbaijan.

Beta zero-thalassaemia comprises a series of closely related haemoglobinopathies which are widely spread in some areas (the Mediterranean, Caucasus, Central Asia, and others). It is caused by a variety of mutations in the beta-globin gene which damage its expression, thus leading to severe illness, which is often lethal at an early age. By means of the polymerase chain reaction (PCR), restriction analysis, and sequencing by the Maxam-Gilbert method, we have identified a number of mutations in the beta-globin gene that cause beta zero-thalassaemia in the Azerbaijanian population, viz AA deletion in codon 8, C----T transition in codon 39, and a previously unknown G deletion in codons 82/83.

[Molecular causes of thalassemia. III. Molecular genetic variants of beta-thalassemia in Azerbaijan].

Twelve patients with homozygous beta-thalassemia from Azerbaijan are described. From biosynthetic studies, we have established that seven children had beta +-thalassemia, while five had beta 0-thalassemia. In six patients with beta +-thalassemia a close correlation has been found between alpha/beta globin chain synthesis and alpha/beta mRNA content determined by molecular hybridization.