Coexistence of hemoglobin Handsworth and alpha 3.7 kb deletion in Caucasian woman in Poland

BackgroundThis report presents a case of an adult Polish women of Caucasian origin who was heterozygous for the nondeletional mutation: Hb Handsworth (HBA2 or HBA1: c.55G > C, p.Gly19Arg) and deletional (-α) α-thalassemia mutation. MethodsThe HbA and HbF levels were measured by microcolumn chromatography and alkaline denaturation procedure, respectively, while electrophoresis was used to detect pathological hemoglobin fraction. The β- and α-globin genotypes were determined by DNA sequencing, gap-polymerase chain reaction, α gene triplication and MLPA. ResultsThe HbA and HbF levels were normal, but hemoglobin electrophoresis on agarose gel alkaline pH showed a strong band migration in a position of hemoglobin S and faint bands in the neighborhood of band A on acid electrophoresis. Molecular analysis of the alpha globin cluster detected a point mutation at codon 19 in (c.55G > C, p.Gl- y19Arg) and deletion -α. ConclusionsOur compound heterozygosity does not produce severe clinical or hematological symptoms but it is important to say that in our part of Europe such cases do appear. Molecular analysis of the alpha globin cluster is required for correct diagnosis in patients with normal HbA levels. Compound heterozygosity was unmasked by molecular diagnosis only

Nieimmunologiczny obrzęk płodu w wyniku talasemii alfa. Opis przypadku zdiagnozowanego i leczonego prenatalnie w Polsce

Talasemia alfa to niedokrwistość wynikająca z mutacji w genach kodujących alfa-globinę lub w elementach regulatorowych klastra alfa-globiny. Zespół hemoglobiny Barta to najcięższa postać tej niedokrwistości, spowodowana defektem genetycznym prowadzącym do całkowitego braku syntezy alfa-globiny, najczęściej wynikającym z delecji obu kopii genów z każdego allelu. U chorych nie są syntetyzowane dwie dominujące hemoglobiny niezbędne dla prawidłowej ontogenezy – HbF w okresie płodowym oraz postnatalnie HbA. Hemoglobiną dominującą jest hemoglobina Barta, składająca się wyłącznie z łańcuchów gamma-globiny. Choroba ujawnia się w okresie prenatalnym w postaci niedokrwistości oraz obrzęku płodu. Przypadek tej postaci talasemii alfa został zdiagnozowany i był skutecznie leczony prenatalnie w jednym z ośrodków w Polsce. W pracy przedstawiono jego opis kliniczny oraz zaprezentowano wyniki badań biochemicznych i molekularnych

Analiza mutacji talasemii alfa u chorych diagnozowanych w Instytucie Hematologii i Transfuzjologii

BackgroundAlpha-thalassemia is genetically transmitted hemolytic anemia resulting from disturbance of the globins chain synthesis. Alpha-thalassemia is caused most frequently by deletions and less commonly by nondeletional defects.AimTo introduce the molecular methods for routine identifications of alpha-thalassemia mutations and to study the characteristics of these mutations in Poland.MethodsBlood sample of 155 patients with normal or reduced HbA2 values was obtained for blood counting. All samples underwent gap-PCR to screen for the seven common α-thal deletions and MLPA analysis. The DNA of 21 patients in which deletions were not detected has been directly sequenced.ResultsWe detected mutations in the alpha-globin gene in 72 of 155 patients studied. 55 out of 72 cases showed most common thalassemia deletions, as the following: a single gene deletion (α3.7 and α4.2) and both genes deletion (FIL, SEA, MED I, and α20.5). Owing to the use of MLPA technique, we found nontypical deletions in another 12 patients and multiplication of the alpha-globin genes in further 4 cases. We also identified a patient with a point mutation HBA2: c.300 + 2T>A by DNA sequencing.ConclusionsMolecular analysis of the alpha-globin cluster is required for a correct diagnosis in patients with normal or reduced level of HbA2.The results of the study show that due to the progressive migration of the population and globalization, thalassemia must be included in the differential diagnosis of anemia in Poland

Particle size distribution of the major Alternaria alternata allergen, Alt a 1, derived from airborne spores and subspore fragments

Abstract Fungal fragments are abundant immunoreactive bioaerosols that may outnumber the concentrations of intact spores in the air. To investigate the importance of Alternaria fragments as sources of allergens compared to Alternaria spores, we determined the levels of Alternaria spores and Alt a 1 (the major allergen in Alternaria alternata spores) collected on filters within three fractions of particulate matter (PM) of different aerodynamic diameter: (1) PM>10, (diameter>10μm); (2) PM2.5-10 (2.5-10μm); (3) PM2.5 (0.12-2.5μm). The airborne particles were collected using a three stage high-volume ChemVol cascade impactor during the Alternaria sporulation season in Poznań, Poland (30 days between 6 July and 22 September 2016). The quantification of Alt a 1 was performed using the enzyme-linked immunosorbent assay. High concentrations of Alt a 1 were recorded during warm and dry days characterized by high sunshine duration, lack of clouds and high dew point values. Atmospheric concentrations of Alternaria spores correlated significantly (r=0.930, p30%) was observed in PM2.5-10 than in PM>10. This Alt a 1 excess may be derived from sources other than spores, e.g. hyphal fragments. Overall, in outdoor air the major source of Alt a 1 are intact Alternaria spores, but the impact of other fungal fragments (hyphal parts, broken spores, conidiophores) cannot be neglected, as they may increase the total atmospheric Alt a 1 concentration

Between pay secrecy and transparency. The legal challenges related to the implementation of Directive (EU) 2023/970 .

Barzycka-Banaszczyk, MałgorzataDubowik, AnnaBarzycka-Banaszczyk, Małgorzat

An influence of the selected bioproducts used as barley seed dressings on fungi establishment

Celem pracy było określenie zasiedlenia ziarna jęczmienia przez grzyby patogeniczne i saprotroficzne zaprawionego biopreparatami o różnym składzie i odmiennym mechanizmie działania. W doświadczeniu wykorzystano do zaprawiania ziarna następujące środki rekomendowane do stosowania w rolnictwie ekologicznym, takie jak: Biochikol 020 PC, Biosept 33 SL, Bioczos BR oraz inne również pochodzenia naturalnego: Cedomon EO, Polyversum, BioLux - New, Cropaid. Dla porównania zastosowano chemiczne zaprawy - Zaprawę Funaben T oraz Vitavax 200 FS stosowanymi w rolnictwie konwencjonalnym. Oceniano także metodą bibułową energię i zdolność kiełkowania tego ziarna. Na badanym materiale izolowano przede wszystkim gatunki saprotroficzne (Alternaria alternata, Penicillium spp.), a w mniejszym stopniu patogeniczne (Fusarium avenaceum, F. poae, F. culmorum orazFusarium spp.). Wszystkie zastosowane środki skutecznie ograniczyły występowanie na ziarnie patogenicznych grzybów z rodzaju Fusarium.The aim of this work was to determine establishment of pathogenic and saprotrophic fungi in barley seeds dressed with bioproducts of different composition and mechanism of action. The following products were used for seed's dressing: Biochikol 020 PC, Biosept 33 SL, Bioczos BR, Cedomon EO, Polyversum, Biolux - New and Cropaid. Chemical seed dressings such as Funaben T and Vitavax 200 FS, employed usually in conventional agriculture, were used for comparison. Using blotting-paper method, germination energy and ability of the seeds were assessed. From the studied material, saprotrophic species (Alternaria alternata, Penicillium spp.) were mainly isolated while pathogenic ones (Fusarium avenaceum, F. poae, F. culmorum and Fusarium spp.) occurred to a lesser degree. All products applied effectively controlled an occurrence of pathogenic fungi of Fusarium genus in barley seeds