[New beta0-thalassaemic insertion mutation (CD 7/8, +G) in a Slovak family, associated with the Mediterranean haplotype IX].

The authors describe a newly identified beta0-thalassaemic mutation found in two subjects from two generations of a Slovak family. The beta0-thalassaemic allele developed by insertion of one nucleotide (+G, CD 7/8) into the first exon of the beta-globin gene. The mutation causes a shift of the open globin reading frame which leads to the development of a terminal codon in codon 22.

[Unstable Santa Ana hemoglobin or alpha 2 beta 2 88 (F4) Leu-Pro detected in a Slovak girl].

The unstable haemoglobin variant Ana (alpha 2 beta 2 88 (F4) Leu-Pro) was identified to cause haemolysis in a 10-year-old Slovak girl. She was followed for haemolytic anaemia symptoms since two years of age. Clinical signs are hepatosplenomegaly and moderate haemolytic anaemia not requiring blood transfusions.

[Dominant beta-thalassemia alleles in the Czech and Slovak population (beta-thalassemia mutations in 112(T-A) and 121(G-T) codons and the unstable Hradec Králové hemoglobin or alpha 2 beta 2 115 (G17) Ala-Asp)].

In four unrelated families of Czech and Slovak origin two nonsense dominant beta-thalassaemic alleles (CD 121 (G-T); CD 112 (T-A)) and in one family simple substitution in codon 115 (GCC-GAC) or alpha 2 beta 2 115 (G17) Ala-Asp HB-Hradec Králové were identified. Mutations in codons 112 and 115 were described for the first time. Phenotypic manifestation of beta-thal.

[Use of nuclear magnetic resonance in the study of hemolytic anemia. Preliminary report].

Nuclear magnetic resonance is a method which contributes nowadays to further investigations of the phosphate metabolism in red blood cells. By means of 31P nuclear magnetic resonance it is possible to record in intact red cells signals of phosphate compounds as well as changes in their concentrations. In the submitted work the authors followed up the important phosphate compounds in red cells--adenosine triphosphate, adenosine diphosphate and inorganic phosphate.