scholarly journals First cases of Hb Lepore in the Russian Federation

2021 ◽  
Vol 20 (3) ◽  
pp. 102-107
Author(s):  
M. V. Krasilnikova ◽  
N. A. Karamyan ◽  
E. A. Litvin ◽  
S. G. Mann
Keyword(s):  
Capillary Electrophoresis ◽  
Russian Federation ◽  
Peripheral Blood ◽  
Final Diagnosis ◽  
Globin Genes ◽  
Globin Chain ◽  
Globin Chains ◽  
Molecular Biological Analysis ◽  
The Russian Federation ◽  
Hb Concentration

Hb Lepore, as the result of fusion of the b- and d-globin genes, leads to decreased amount of non-a-globin chains availability for hemoglobin formation. Hb Lepore, up to now, was not identified among Russian patients. We provide clinical and laboratory information on Hb Lepore Boston–Washington in two cases, one of them familial. A small amount of abnormal Hb was detected by capillary electrophoresis, an abnormal globin chain was shown by HPLC, and the final diagnosis of Hb Lepore Boston– Washington was made by molecular biological analysis of globin genes. Peripheral blood for all affected people revealed RBC’s hypochromia microcytosis and normal Hb concentration. The parents of the patients agreed to use the information, including photos of children, in scientific research and publications.

scholarly journals Globin chain synthesis in HbD (Punjab)-beta-thalassemia

Blood ◽  
1976 ◽  
Vol 47 (1) ◽  
pp. 113-120 ◽  
Author(s):  
RF Rieder
Keyword(s):  
Bone Marrow ◽  
Peripheral Blood ◽  
Beta Thalassemia ◽  
Globin Chain ◽  
Globin Chains ◽  
Mild Anemia ◽  
Thalassemia Trait ◽  
Chain Synthesis ◽  
Hbd Punjab ◽  
Globin Chain Synthesis

Abstract A 23-yr-old man of Greek-Italian ancestry with mild anemia was found to be heterozygous for HbD (Punjab) beta121 glu leads to gin and beta- thalassemia. HbA was not detected upon electrophoresis of the subject's hemolysate, and no synthesis of betaA globin was demonstrated after incubation of peripheral blood or bone marrow with 3H-leucine. The thalassemia gene was thus of the betao variety. The betaD/alpha synthesis ratios were almost equally unbalanced in the blood and bone marrow: 0.53 and 0.61, respectively. The mother of the propositus had beta-thalassemia trait. In peripheral blood the betaA/alpha synthesis ratio was 0.38. The mutant betaD gene thus appeared potentially capable of directing the synthesis of globin chains as efficiently as a normal betaA gene. The mildness of the HbD-betao-thalassemia syndrome appeared to be due to the maintenance of a relatively high total beta/alpha synthesis ratio in the presence of a physiologically neutral structural mutation.

Recapitulation of the Fetal Pattern of Expression of the Iγ and Vγ-Globin Genes in Cultured Baboon CD34+ Bone Marrow Cells.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 1590-1590
Author(s):  
Donald Lavelle ◽  
Kestis Vaitkus ◽  
Mahipal Singh ◽  
Maria Hankewych ◽  
Joseph DeSimone
Keyword(s):  
Bone Marrow ◽  
Amino Acid ◽  
Bone Marrow Cells ◽  
Globin Gene ◽  
Single Amino Acid ◽  
Globin Genes ◽  
Globin Chain ◽  
Hemoglobin Switching ◽  
Globin Chains

Abstract The human Gγ-globin and Aγ-globin genes differ by the presence of a single amino acid, either glycine or alanine, at position 136. The ratio of Gγ/Aγ-globin expression is approximately 7/3 at birth and changes to 2/3 in the adult. The mechanism responsible for this developmental switch is unknown. In the baboon, the duplicated γ-globin genes differ by the presence of a single amino acid at position 75. The Iγ-globin gene contains isoleucine at position 75, while the Vγ-globin gene contains valine at this position. The ratio of expression of the Iγ and Vγ-globin chains also differs in the fetal and adult stages. The Iγ/Vγ ratio is 3/2 in the fetus and 2/3 in the adult. Thus the pattern of expression of the baboon Iγ-globin gene is analogous to the human Gγ-globin gene, and that of the Vγ-globin gene is analogous to the human Aγ-globin gene. During stress erythropoiesis, moderately increased HbF levels are observed (5–10% HbF) and the Iγ/Vγ-globin chains are expressed in the characteristic adult ratio. Decitabine treatment reactivates HbF expression to high levels (50–70% HbF) and Iγ/Vγ ratios of approximately 1:1 have been observed following decitabine treatment. Thus decitabine treatment alters the Iγ/Vγ ratio but does not cause a complete reversion to the fetal pattern of expression. HbF is also reactivated to high levels in cultured baboon BFUe. In this investigation the pattern of expression of the Iγ- and Vγ-globin genes in cultured baboon CD34+ bone marrow (BM) cells was analyzed to determine whether reactivation of HbF in culture was associated with a change in the pattern of expression of the Iγ-and Vγ-globin genes. CD34+ cells were enriched from baboon BM using the 12.8 monoclonal antibody in combination with immunomagnetic microbead columns (Miltenyi) and cultured in Iscove’s media supplemented with 30% fetal bovine serum, stem cell factor (SCF; 200ng/ml), erythropoietin (EPO; 2U/ml), and dexamethasone (Dex; 1μM). The pattern of globin chain expression in d12 cultures, cord blood (CB) of a 58d fetus, and peripheral blood (PB) of adult baboons following phlebotomy and decitabine treatment was compared by HPLC analysis of hemolysates. The baboon 58d CB contained >90% HbF and the ratio of Iγ/Vγ was 1.85. In the adult (phlebotomized) PB the level of HbF was 8.1% and the Iγ/Vγ ratio was 0.75 thus confirming that the ratio of the baboon Iγ and Vγ-globin chains differs in the fetal and adult stages of development in a manner similar to that of the human Gγ and Aγ-globin chains. Following decitabine treatment (PA 7002) an HbF level of 55% was attained with an Iγ/Vγ ratio of 1.1. Hemolysates prepared from d12 cultures of CD34+ baboon (PA 7002) BM cells grown in the presence of SCF, EPO, and Dex contained 57.6% HbF, nearly the same level observed following decitabine treatment in vivo. The Iγ/Vγ ratio was 1.94, markedly different from that observed in this same baboon following decitabine in vivo and, moreover, nearly identical to the fetal ratio. Thus HbF reactivation in cultured adult baboon CD34+ BM cells was associated with a change in the ratio of expression of the two baboon γ-globin genes to that characteristic of the fetal stage. Recapitulation of the fetal pattern of γ-globin chain expression in cultured baboon CD34+ progenitors demonstrates yet another advantage of the baboon model for investigations of hemoglobin switching.

Diagnostic Complications of Thalassemic Hb Showa-Yakushiji (β110[G12] Leu→Pro),Observed in An African American Child with Co-Inherited Hb B2 (δ16[A13]Gly→Arg) and α-Thal-2 (-α3.7 deletion): Effects of Triple Globin Gene Abnormality On Phenotype.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 2558-2558
Author(s):  
Chinwe Obiaga ◽  
Niren Patel ◽  
Hernan Sabio ◽  
Natalia Dixon ◽  
Steffen E. Meiler ◽  
...  
Keyword(s):  
African American ◽  
Conflicts Of Interest ◽  
Globin Gene ◽  
Molecular Characteristics ◽  
African American Child ◽  
Globin Genes ◽  
Heterozygous State ◽  
Globin Chain ◽  
American Child ◽  
Globin Chains

Abstract Abstract 2558 Poster Board II-535 Hemoglobinopathies can usually be classified under two major categories. Qualitative abnormalities resulting from missense mutations in the globin genes, leading to the production of mostly asymptomatic Hb variants, and quantitative defects, which result in the synthesis of structurally normal globin chains in reduced quantities (thalassemias). However there are known globin chain variants that cause alterations of the globin structure as well as a decrease in synthesis, leading to a thalassemic phenotype. The occurrence of multiple abnormalities of α, β and δ globin chains can lead to an unusual and complex phenotype. We report here the inheritance of triple globin gene abnormalities in an African American child with a genotype that is heterozygous for three abnormalities: α-thal-2 (-α3.7 deletion), thalassemic Hb Showa-Yakushiji (β110[G12] Leu→Pro), and a δ-chain variant Hb B2 (δ16[A13]Gly→ Arg) . Although Hb Showa Yakushiji presents with a severe hemolytic anemia and a thalassemia-like phenotype in the heterozygous state; when co-inherited with Hb B2 and α-thal-2, a milder phenotype was observed. We report the diagnostic approach, molecular characteristics and genotype/phenotype correlations of this complex hemoglobinopathy syndrome. A 2 year old African American boy presented with anemia which was not responsive to iron therapy. CBC revealed: Hb 9.9 g/dL, Hct 31.3 %, MCV 62.5 fl, MCH 19.8 pg, MCHC 31.7 g/dl. The reticulocyte count was 1.1%. The iron profile showed a TIBC of 368; Iron 119; Transferrin 257, Ferritin 30; and % Iron saturation 32. The peripheral blood smear revealed a microcytic anemia suggestive of a thalassemic phenotype. The patient's hemolysate was analyzed by isoelectric focusing (IEF) showed Hb's A, F, A2, and a minor peak Hb X which was significantly slower than Hb A2 . Quantitative values by high performance liquid chromatography (HPLC) were: Hb F : 5.0%, Hb A: 91.0%, Hb A2: 2. 0% and Hb X (B2): 2.0%. Reverse Phase HPLC was also performed and no additional abnormality was detected. Sequencing of the β-globin genes revealed a heterozygous T→C mutation at the codon 110 consistent with Hb Showa-Yakushiji (β110[G12] Leu →Pro) which was not detectable with IEF and HPLC. Sequencing of the δ-globin genes showed a heterozygous G→C mutation at codon 16, Hb B2 (δ16[A13] Gly →Arg) which was also not detectible by IEF or HPLC unless over applied. A 590 bp long fragment of the β-globin gene (Accession # EU605697/APR-2008) and a 780 bp long fragment of the δ-globin gene (Accession # EU605698/APR-2008) sequences have been submitted to NCBI/GenBank. Detection of alpha thalasemia (α−3.7) deletion by PCR analysis, revealed one alpha gene deletion (−3.7α/αα). The leucine to proline substitution at residue 110 of β-globin chain, disrupts the G helix and the α1β1 contact of the hemoglobin molecule. As a result, an extremely unstable Hb variant will be produced, which leads to a thalassemic phenotype because of the reduced stability/viability of the mutant beta chain. Previously reported cases of Hb Showa-Yakushiji showed a more severe clinical picture in the heterozygous state than that observed in our patient. This is the first time Hb Showa-Yakushiji is identified in an African American child who presented with a moderate anemia and a thalassemia-like phenotype. The milder phenotype observed in our case may be due to the co-inheritance of α-thal-2 (α−3.7) deletion. The decreased production of α- globin chains may ameliorate the effect of the chain imbalances thus leading to milder clinical and hematologic manifestations. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Absolute Rates of Globin Chain Synthesis in Thalassemia

Blood ◽  
1968 ◽  
Vol 31 (2) ◽  
pp. 226-233 ◽  
Author(s):  
ARTHUR BANK ◽  
ALBERT S. BRAVERMAN ◽  
JOYCE V. O’DONNELL ◽  
PAUL A. MARKS
Keyword(s):  
Peripheral Blood ◽  
Erythroid Cell ◽  
Absolute Rate ◽  
Globin Chain ◽  
Globin Chains ◽  
The Absolute ◽  
Α Chain ◽  
Chain Synthesis ◽  
Globin Chain Synthesis ◽  
Β Chain

Abstract The absolute rate of α chain synthesis per erythroid cell in the peripheral blood of patients with β thalassemia has been shown to be normal while that of β chains is markedly decreased or absent. The results indicate that α chains do not require the presence of β chains for their normal synthesis and release. In addition, γ chain synthesis does not compensate for the decreased β chain synthesis. A marked heterogeneity in the amount of β globin chains produced by different patients with β thalassemia is also prominent.

NEW CORONAVIRUS INFECTION COVID-19: FEATURES OF THE COURSE IN CHILDREN IN THE RUSSIAN FEDERATION

2020 ◽  
Vol 99 (6) ◽  
pp. 57-62
Author(s):  
A.V. Gorelov ◽  
◽  
S.V. Nikolaeva ◽  
V.G. Akimkin ◽  
◽  
...  
Keyword(s):  
Russian Federation ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Final Diagnosis ◽  
Upper Respiratory Tract ◽  
Number Of Children ◽  
Coronavirus Infection ◽  
The Russian Federation ◽  
Upper Respiratory ◽  
Tract Infections

Objective of the research: to determine clinical and epidemiological features of the course of the new coronavirus infection (COVID-19) caused by SARS-CoV-2 in children in the Russian Federation (RF). Materials and methods: a retrospective analysis of all confirmed COVID-19 cases in children in the first half of 2020 in the Russian Federation was performed. Information about patients (age, sex, examination date, place of residence, disease severity final diagnosis, etc.) was taken from the database containing the Rospotrebnadzor report form № 970 «Information on cases of infectious diseases in persons with suspected new coronavirus infection» January – June 2020 across the Russian Federation. Research results were processed using the IBM SPSS Statistics 26 program. To assess the differences in nominal indicators (proportions), the Pearson χ2 test was used. The results were considered statistically significant at p<0,05. Results: in the RF, the total number of children infected with COVID-19 in the first half of 2020 amounted to 8,4% among all patients with this infection. Children of all ages get sick with COVID-19, and boys are slightly more likely than girls (52,2% versus 47,8%, p>0,05). In children, the maximum number of cases is registered in family foci – 75%. Upper respiratory tract infections were diagnosed in 72,1% of patients. The proportion of pneumonia was 1,8%, and 2/3 of children were over 3 years old (p<0,001). In almost 1/3 of patients, the infection course had no clinical manifestations. 18,2% of children at the disease onset had increased body temperature, while only 3,5% of children had hyperthermia above 390 C. Cough was registered in 50,8% of cases. Rhinitis/rhinopharyngitis developed only in every 4th child. Symptoms pathognomonic for COVID-19, such as loss of smell (anosmia) and taste (ageusia), were recorded only in 17% of cases. 41,3% of patients received treatment in a hospital, and among them children under 3 years of age predominated. Conclusion: in children in the RF, the new coronavirus infection COVID-19 is generally favorable.

Cytogenetic status of blood lymphocytes in schoolchildren living middle and high latitudes

2021 ◽  
Vol 66 (4) ◽  
pp. 213-216
Author(s):  
Victoria Victorovna Pozharskaya
Keyword(s):  
Russian Federation ◽  
Peripheral Blood ◽  
Micronucleus Test ◽  
Peripheral Blood Lymphocytes ◽  
The Arctic ◽  
High Latitudes ◽  
Blood Lymphocytes ◽  
The Russian Federation ◽  
Comparison Of The Results ◽  
The City

Intensive industrial development of the northern regions of the Russian Federation is primarily associated with the extraction and processing of natural resources, which leads to environmental pollution and makes the tasks of sanitary and hygienic monitoring urgent. Rapid methods are convenient for the rapid diagnosis of the genetic well-being of the environment, one of which is the micronucleus test in combination with the cytokinetic block cytochalasin B. mitosis. At the moment, there are scanty data on the inter-latitudinal comparison of the results of cytogenetic studies on cells of various human tissues, which greatly complicates the comparison of the results obtained in the Arctic zone of the Russian Federation with data from more southern regions. The purpose of this study is to identify and compare division abnormalities in cells of peripheral blood lymphocytes in two groups of older schoolchildren living in middle and high latitudes. The study was carried out in the city of Serpukhov, Moscow region (54 ° 54 ‘56 “N, 37 ° 24’ 40” E) and the city of Apatity, Murmansk region (67 ° 34’03 “N, 33 ° 23’36 ″ E). A total of 40 children aged 16-18 were examined - 20 children each from the city of Serpukhov and from the city of Apatity. The micronucleus test was carried out in accordance with the international protocol. Cytogenetic analysis of schoolchildren’s peripheral blood lymphocytes using the micronucleus test showed that the spontaneous number of cells with micronuclei is comparable in middle and high latitudes, and approaches the upper limit of the mean population norm. Therefore, when comparing the data of the micronucleus test on the cells of peripheral blood lymphocytes of the studied groups, it is permissible not to take into account the latitude of residence.

scholarly journals STUDY OF CARBOHYDRATE COMPOSITION OF BLUE BLUE (POLEMONIUM CAERULEUM L.)

2021 ◽  
pp. 107-114
Author(s):  
Alevtina Alekseyevna Gudkova ◽  
Galina Yur'yevna Shestakova ◽  
Aleksey Ivanovich Slivkin ◽  
Anna Sergeyevna Chistyakova ◽  
Vladimir Aleksandrovich Agafonov ◽  
...  
Keyword(s):  
Capillary Electrophoresis ◽  
Russian Federation ◽  
Reducing Sugars ◽  
Carbohydrate Composition ◽  
Triterpene Saponins ◽  
Free Sugars ◽  
Plant Organs ◽  
Quantitative Content ◽  
Physicochemical Methods ◽  
The Russian Federation

Polemonium coeruleum (Greek valerian) is a very promising plant for study. Despite the data available in the literature concerning the analysis of the main group of compounds of Greek valerian (triterpene saponins), the remaining groups of the metabolome were practically not affected for study. The aim of the study was to study the carbohydrates of grass and rhizomes with Greek valerians roots. The objects of the study were a sample of grass and rhizomes with Greek valerian roots. The content of the sum of polysaccharides and free sugars in terms of glucose was determined in accordance with the corresponding pharmacopoeial articles of the State Pharmacopoeia of the Russian Federation XIV ed. The profile and quantitative content of simple reducing sugars was studied by capillary electrophoresis. This work was the first to study the sum of free polysaccharides and simple sugars in grass and rhizomes with Greek valerian roots in comparison with the use of modern physicochemical methods. It was revealed that the content of the sum of free polysaccharides and the sum of simple sugars in terms of glucose in the aboveground part of Greek valerian is higher than in the underground one. It was shown that the composition of free simple sugars between plant organs is different and is represented by fructose and sucrose.

Particularities of microcirculation of athletes training for endurance, and its factors

2019 ◽  
Vol 7 (3) ◽  
pp. 100-107
Author(s):  
Fanis Mavliev ◽  
Viktor Demidov ◽  
Andrey Nazarenko ◽  
Nailya Davletova ◽  
Alexey Nabatov
Keyword(s):  
Blood Flow ◽  
Russian Federation ◽  
Peripheral Blood ◽  
Hematological Parameters ◽  
Peripheral Blood Flow ◽  
Skin Area ◽  
Significant Difference ◽  
Sport Activities ◽  
Tissue Fluorescence ◽  
The Russian Federation

The aim is to reveal the features of microcirculation of athletes with various sport qualifications practicing cyclic endurance sports, as well as its dependence on the VEGF (vascular endothelial growth factor) level and hematological parameters. Research materials and methods. The study involved athletes aged 18-22 practicing track-and-field (middle and long distances, from 1st rank to Master of Sports of the Russian Federation), swimming (middle distances, from 1st rank to Master of Sports of the Russian Federation), skiing (from 1st rank to Master of Sports of the Russian Federation), and non-athletes. We utilized a laser detection to record parameters of peripheral blood flow and tissue fluorescence amplitudes. Research results and discussion. We recorded significant difference in microcirculation parameters for skiers and field athletes. Skiers demonstrated a lower value of average perfusion, while field athletes showed its double predominance in contrast with skiers. At the same time, cooling of the studied area caused no difference between the studied groups. Heating of the studied area resulted in the statistically significant changes in microcirculation between groups of skiers in contrast with field athletes and swimmers, as well as swimmers, in contrast with field athletes and non-athletes. At the same time, the VEGF level had correlations with the microcirculation of field athletes, and it was recorded with the NADN parameter under the cooling (r = 0.89; p = 0.019) and heating (r = 0, 94; p = 0.005) conditions. Conclusion. We revealed the signs of long-term adaptation of peripheral blood flow of athletes conditioned by the type and conditions of sport activities. It results in difference in perfusion of the studied skin area.

scholarly journals Globin chain synthesis in HbD (Punjab)-beta-thalassemia

Blood ◽  
1976 ◽  
Vol 47 (1) ◽  
pp. 113-120
Author(s):  
RF Rieder
Keyword(s):  
Bone Marrow ◽  
Peripheral Blood ◽  
Beta Thalassemia ◽  
Globin Chain ◽  
Globin Chains ◽  
Mild Anemia ◽  
Thalassemia Trait ◽  
Chain Synthesis ◽  
Hbd Punjab ◽  
Globin Chain Synthesis

A 23-yr-old man of Greek-Italian ancestry with mild anemia was found to be heterozygous for HbD (Punjab) beta121 glu leads to gin and beta- thalassemia. HbA was not detected upon electrophoresis of the subject's hemolysate, and no synthesis of betaA globin was demonstrated after incubation of peripheral blood or bone marrow with 3H-leucine. The thalassemia gene was thus of the betao variety. The betaD/alpha synthesis ratios were almost equally unbalanced in the blood and bone marrow: 0.53 and 0.61, respectively. The mother of the propositus had beta-thalassemia trait. In peripheral blood the betaA/alpha synthesis ratio was 0.38. The mutant betaD gene thus appeared potentially capable of directing the synthesis of globin chains as efficiently as a normal betaA gene. The mildness of the HbD-betao-thalassemia syndrome appeared to be due to the maintenance of a relatively high total beta/alpha synthesis ratio in the presence of a physiologically neutral structural mutation.

scholarly journals APPLICATION OF CELLULAR TECHNOLOGIES FOR RESTORATIONOF PROCESS OF REGENERATION AT PEOPLE OF THE SENIOR AGE GROUPS

2014 ◽  
Vol 6 (4) ◽  
pp. 52-62
Author(s):  
A V Pechersky ◽  
V I Pechersky ◽  
A B Smolyaninov ◽  
V N Velyaninov ◽  
S F Adylov ◽  
...  
Keyword(s):  
Stem Cells ◽  
Russian Federation ◽  
Pluripotent Stem Cells ◽  
Peripheral Blood ◽  
Age Groups ◽  
Long Period ◽  
Differentiated Cells ◽  
The Russian Federation ◽  
The Given ◽  
Specialized System

This manuscript is devoted to the vital topic - restoration of process of the regeneration at people of the senior age groups. Cells-predecessors and differentiated cells can divide a limited number of times and are not capable of providing regeneration of tissues during all of ontogenesis. The updating of tissues during such a long period is impossible without the participation of a specialized system responsible for regeneration. The given system is submitted by stem cells which are capable of being differentiated in all types of somatic cells and in a line of genital cells, and also have ability to self-update during the whole life of an organism. Results of research allow to consider, that the number of a pool of pluripotent stem cells at people of the senior age groups can be restored by a transfusion of mononuclear fraction of peripheral blood from young donors of 18-23 years of one blood types and a floor with the recipient (The patent of the Russian Federation № 2350340).

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