Author: Gleixner, E. et al.; Genre: Journal Article; Published in Print: 2008-09; Open Access; Keywords: globin;hyperoxia; hypoxia; respiration; tracheae|br/|; Title: Oxygen-induced changes in hemoglobin expression in Drosophila.

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In our two papers (1, 2) in which we have detailed the factual basis and theoretical implications of molecular drive, we have defined it as a process of fixing a mutation within multigene and non-genic families in a population, as a consequence of DNA turnover. Considerations of rates of turnover indicate that individuals of a sexual population would change in unison with respect to the changing composition of a family. At the heart of molecular drive is the widespread phenomenon of concerted evolution. Although the reality of this phenomenon is incontestable, we cannot accept the definitive statement of Lewins, drawing in particular on remarks made by A. Jeffreys on the human globin cluster and Alu family, that it is not a universal phenomenon. Concerted evolution is occurring in the globin cluster; indeed this phenomenon was first defined as such in this cluster due to the homogenization of pairs of [alpha] and [gamma] genes, and their flanking sequences, by unequal exchange or gene ...

A 350-bp segment of DNA associated with an erythroid-specific DNase I-hypersensitive site (HS-40), upstream of the alpha-globin gene cluster, has been identified as the major tissue-specific regulator of the alpha-globin genes. However, this element does not direct copy number-dependent or developmentally stable expression of the human genes in transgenic mice. To determine whether additional upstream hypersensitive sites could provide more complete regulation of alpha gene expression we have studied 17 lines of transgenic mice bearing various DNA fragments containing HSs -33, -10, -8, and -4, in addition to HS -40. Position-independent, high-level expression of the human zeta- and alpha-globin genes was consistently observed in embryonic erythroid cells. However, the additional HSs did not confer copy-number dependence, alter the level of expression, or prevent the variable down-regulation of expression in adults. These results suggest that the region upstream of the human alpha-globin genes is not

Using the dominant control region (DCR) sequences that flank the beta-globin gene locus, we have been able to achieve high-level expression of the human alpha-globin gene in transgenic mice. Expression in fetal liver and blood is copy number dependent and at levels comparable to that of the endogenous mouse alpha-globin genes. Transgenic fetuses with high-copy numbers of the transgene suffer severe anemia and die before birth. Using a construct with both the human alpha- and beta-globin genes and the beta-globin DCR, live mice with low-copy numbers were obtained. Both human globin genes are expressed at high levels in adult red cells to give human hemoglobin HbA in amounts equal to or greater than endogenous mouse hemoglobin. Expression of HbA in murine red cells is not accompanied by any increase in mean corpuscular volume (MCV) or mean corpuscular hemoglobin concentration (MCHC). However, these transgenic mice tend to have an increased number of reticulocytes in peripheral blood; consistent with some

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Using the dominant control region (DCR) sequences that flank the beta-globin gene locus, we have been able to achieve high-level expression of the human alpha-globin gene in transgenic mice. Expression in fetal liver and blood is copy number dependent and at levels comparable to that of the

TY - JOUR. T1 - Modulation of mouse hemoglobin expression by hydroxyurea and erythropoietin in vivo.. AU - Alter, B. P.. AU - Wagner, C. K.. AU - Susser, L. S.. AU - Weinberg, R. S.. PY - 1989. Y1 - 1989. UR - http://www.scopus.com/inward/record.url?scp=0024795799&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0024795799&partnerID=8YFLogxK. M3 - Article. C2 - 2616578. AN - SCOPUS:0024795799. VL - 316 B. SP - 317. EP - 325. JO - Progress in Clinical and Biological Research. JF - Progress in Clinical and Biological Research. SN - 0361-7742. ER - ...

A new polymorphic BgI II restriction endonuclease site in the alpha-globin gene complex has been found in Cypriot, Sardinian, and Greek populations. In all cases, this polymorphism is linked to a particular hypervariable region between the zeta 2 and zeta 1 genes. This suggests that these hypervariable regions are stable and will be useful for genetic analysis.

A new polymorphic BgI II restriction endonuclease site in the alpha-globin gene complex has been found in Cypriot, Sardinian, and Greek populations. In all cases, this polymorphism is linked to a particular hypervariable region between the zeta 2 and zeta 1 genes. This suggests that these hypervariable regions are stable and will be useful for genetic analysis.

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દરિયા-સ્તરના દબાણે સ્વસ્થ માનવ શ્વસન હવામાં ધમનીય લોહીના નમૂના પૈકીનો લગભગ 98.5% જેટલો પ્રાણવાયુ Hgb(હિમોગ્લોબિન) સાથે ભળી જાય છે. લગભગ 1.5% જેટલા નમૂના અન્ય રક્ત પ્રવાહીઓમાં ભળી જાય છે અને હિમોગ્લોબિન સાથે સંકળાતો નથી. સસ્તનોમાં અને અન્ય અનેક જાતોમાં હિમોગ્લોબિનના કણો એ પ્રાણવાયુના પ્રાથમિક પરિવાહકો છે(અપવાદ માટે જુઓ નીચે). હિમોગ્લોબિનની પ્રાણવાયુ બંધનકર્તા ક્ષમતા અંદાજે 1.36 અને.37 ...

Femtochemistry IX: Femtochemistry, Femtobiology, and Femtophysics - Frontries in Ultrafast Science and Technology, Beijing, China, 8-13 August 2009, p. 111 P-43 ...

Alpha thalassemia carrier. Two alpha chain genes are deleted. Alpha thalassemia minor or alpha thalassemia-1 trait are other terms for this condition. If both deleted genes are from the same #16 chromosome, it is called a cis deletion and is inherited from one parent. If instead one gene is missing from both #16 chromosomes, it is called a trans deletion and is inherited from both parents. This results in an anemia that is usually mild to moderate, but can be severe. When both parents are carriers of the cis deletion, there is a one in four, or 25 percent, chance with each pregnancy, to have a baby with alpha thalassemia major. Identifying whether an alpha thallasemia carrier has the cis deletion versus two trans deletions requires testing by DNA (deoxyribonucleic acid) analysis. DNA testing is usually done from a blood sample and looks at the alpha chain genes on each #16 chromosome, to determine which are deleted. ...

Chair: Michael Awad, MD, PhD Faculty: Jeffrey Blatnik, MD; Amber Traugott, MD; and Adnan Alseidi, MD Program Outline: -Welcome and Overview: Michael Awad, MD, PhD -Esophagus, Stomach, Obesity: Michael Awad, MD, PhD -General Abdomen, Hernia, Spleen: Jeffrey Blatnik, MD -Colorectal & Anal Disease: Amber Traugott, MD -Small Intestine, Biliary Disease, Flexible Endoscopy: Adnan Alseidi, MD. ...

Alpha thalassemia causes mild anemia and is found in many ethnic groups. Usually it is found in regions where malaria is endemic. We have found that alpha thalassemia is common in Ashkenazim, whose countries of origin are in temperate climates.. We are analyzing the alpha globin polymorphisms to determine the haplotypes of individuals of many ethnic groups and will compare to try to define the origin of thalassemia in these individuals of European extraction. ...

View messages from patients providing insights into their medical experiences with Alpha Thalassemia - Symptoms. Share in the message dialogue to help others and address questions on symptoms, diagnosis, and treatments, from MedicineNets doctors.

Current models suggest that tissue-specific genes are arranged in discrete, independently controlled segments of chromatin referred to as regulatory domains. Transition from a closed to open chromatin structure may be an important step in the regulation of gene expression. To determine whether the human alpha-globin cluster, like the beta-globin cluster, lies within a discrete, erythroid-specific domain, we have examined the long-range genomic organization and chromatin structure around this region. The alpha genes lie adjacent to at least four widely expressed genes. The major alpha-globin regulatory element lies 40 kb away from the cluster within an intron of one of these genes. Therefore, unlike the beta cluster, cis-acting sequences controlling alpha gene expression are dispersed within a region of chromatin that is open in both erythroid and nonerythroid cells. This implies a difference in the hierarchical control of alpha- and beta-globin expression.

Transcriptional analysis of the human pseudogene psi alpha globin has revealed the following features: (1) The promoter with a 23 bp deletion between the CCAAT and ATA boxes is functional both in vitro and in vivo, 3 fold and 10 fold less efficient, respectively, than alpha. (2) Both the psi alpha and alpha globin gene promoters are active in the absence of transcriptional enhancers, either a gene-encoded or viral enhancer. (3) The mutated poly(A) addition signal in psi alpha (AATGAA) appears to be completely nonfunctional. This result provides an explanation for the absence of psi alpha transcripts in human erythroid cells.

Alpha thalassemia is a blood disorder in which the body has a problem producing alpha globin, a component of hemoglobin, the protein in red blood cells that transports oxygen throughout the body.

Alpha thalassemia is a blood disorder in which the body has a problem producing alpha globin, a component of hemoglobin, the protein in red blood cells that transports oxygen throughout the body.

The alpha thalassemia (α-thalassemia) syndromes are a group of hereditary anemias of varying clinical severity. They are characterized by reduced or absent production of 1 or more of the globin chains of which human hemoglobin is composed.

Thalassemia is an inherited blood disorder. It is passed down from one or both parents through their genes. Learn about the4 types of alpha thalassemia, symptoms, treatment options, and more.

Anthropogenetical Analysis of Abnormal Human -globin Gene Cluster Arrangement on Chromosome 16*. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.

Read Structure of Globin Gene Domains in Mammals and Birds, Russian Journal of Genetics on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.

We developed a general approach that combines chromosome conformation capture carbon copy (5C) with the Integrated Modeling Platform (IMP) to generate high-resolution three-dimensional models of chromatin at the megabase scale. We applied this approach to the ENm008 domain on human chromosome 16, co …

CDS Hgb/NOC Lyse CDS-501-083 (4 Liters) for Use on Abbott Cell Dyn 3200. Buy this high quality, low cost CDS-501-083 hematology reagent from us.

and monitored for changes in the blood profile using a haematological analyser. A chronic infection lasting between 48 and 112 days was observed. Microcytic hypochromic anaemia, which was characterized by a decline in packed cell volume (PCV), red blood cell (RBC) numbers, mean corpuscular volume (MCV) and mean corpuscular haemoglobin concentration (MCH) developed at an early stage, and persisted throughout the infection. The mean platelet counts declined significantly from 3 x 105/μl (day 0 post infection) to 6.8 x 104/μl (day 7 post infection) and remained low in all the animals. However, the mean platelets volume rose during the course of the infection. An initial decline in total white blood cell (WBC) counts occurred between day 0 and 7 (3.1 x 106/μl) and remained low up to day 35 post infection (3.5 x 106/μl). This was followed by an increase in WBC counts, principally associated with increased lymphocyte numbers. It is concluded that microcytic hypochromic anaemia, thrombocytopaenia ...

In normal individual, hemoglobin consists of alpha globin chain and beta globin chain. There are two forms of thalassemia. These include alpha thalassemia and beta thalassemia. Alpha thalassemia occurs due to excess of beta globin chain than alpha glob

Alpha thalassemia is an inherited blood disorder. This means it is passed down through the parents genes. It causes anemia in affected children. Learn more about symptoms, diagnosis, and treatment.

Name:Harlen Forya Sex: Female Country: Argentina Age: 9 years Diagnoses: 1. Chronic encephalopathy 2. Epilepsy 3. Microcytic hypochromic anemia Admission Date: 2013-06-21 Days Admitted to the Hospital: 28 Before treatment: Harlen Forya is a 9 year ol

S. Svasti, Suwanmanee, T., Fucharoen, S., Moulton, H. M., Nelson, M. H., Maeda, N., Smithies, O., and Kole, R., RNA repair restores hemoglobin expression in IVS2-654 thalassemic mice., Proceedings of the National Academy of Sciences of the United States of America, vol. 106, no. 4, pp. 1205-10, 2009. ...

For a discussion of alpha-thalassemia, see Alpha Thalassemia. A list of HBA1 and HBA2 alpha-thalassemia mutations is on the HBA2 page. ...

Alpha thalassemia is an inherited blood disorder. This means it is passed down through the parents genes. It causes anemia in affected children. Anemia is a low red blood cell or low hemoglobin level. Hemoglobin is the part of red blood cells. It carries oxygen to organs, tissues, and cells. Alpha thalassemia affects the production of hemoglobin. There are different types of thalassemia. The severity of anemia depends on the type the child has. ...

The MCH or mean cell hemoglobin represents the absolute amount of hemoglobin in the average red blood cell in a sample. Its units are picograms (pg) per cell. The MCH is calculated from the hemoglobin concentration (Hgb) and the RBC count using the following equation:. MCH (pg) = (Hgb x 10) ÷ RBC. This value usually tracks with the mean cell volume as it is dependent on the volume of red blood cells and is generally a less useful measure than MCV or MCHC, which we use to characterize an anemia (e.g. microcytic hypochromic). For example, a low MCH could be due to smaller than normal cells with normal Hb concentration or normal sized cells with lower than normal Hb concentration. It is better to know the values for cell volume (MCV) and Hb concentration (Hgb) directly. Laser-based hematology analyzers also provide results for the hemoglobin content within intact red blood cells, i.e. this is measured directly by high angle light scatter of the laser versus being a calculated value. This is called ...

Tfr1 has long been used as a marker of red blood cells and is believed to play an essential role in erythropoiesis; however, its role in HSPC is poorly understood. Here, we generated and characterized a mouse model in which Tfr1 expression was deleted specifically in HSC and observed profoundly impaired BM function and defects in multiple cell lineages. These defects, which cause cKO offspring to die within one week of age, indicate that Tfr1 plays an essential role in hematopoiesis.. Specifically, our HSC-specific Tfr1-deficient mouse model allowed us to systematically dissect the role of Tfr1 in the development of erythrocytes, granulocytes, thrombocytes, and lymphocytes. Our findings of microcytic hypochromic anemia in neonatal cKO pups and progressive erythropenia in FL of cKO embryos reveal that Tfr1 is required for erythropoiesis at an early stage, as loss of Tfr1 primarily blocked the differentiation of erythroblast precursors (e.g. proerythroblasts, polychromatophilic erythroblasts), ...

Images show peripheral blood smears containing a dimorphic population (hypochromic-microcytic, and normochromic-normocytic red blood cells). From MLS Collection, University of Alberta.. Image 1: 100x oil immersion. https://doi.org/10.7939/R3T14V447. Image 2: 50x oil immersion. https://doi.org/10.7939/R3V11W18D. Cell Description:. The peripheral blood smear shows that there are two distinct red blood cell populations present. The different red blood cell populations that may be seen are normocytic/normochromic, microcytic/hypochromic, macrocytic/normochromic.1,2. Cell Formation:. The cause for the formation of a dimorphic red blood cell population varies depending on the clinical condition.. Associated Disease/Clinical States:1-2. Sideroblastic Anemia. Myelodysplastic Syndrome (MDS). Iron, Vitamin B12, Folate deficiency (and during the early treatment stage). Post-transfusion. Erythropoietin Therapy. Note: RDW , 14.5%3. ...

Transferrin is a protein with a molecular weight of approximately 79.6 kDa. It is the main protein of iron transport (III). It is synthesised mostly in the liver, but also in the choroid plexus of the brain. The transferrin plasma concentration is regulated by the availability of iron in the body: during iron deficiency, the transferrin plasma concentration increases, and returns to normal when the deficiency is treated. A large transferrin plasma concentration may be caused by microcytic hypochromic anaemia (the assay of transferrin may then be used for treatment monitoring), during iron deficiency, but also during pregnancy or even during oestrogen treatment.. A decrease of transferrin can be measured in the case of the acute inflammatory phase, chronic hepatitis or even malnutrition. A nephrotic syndrome can also decrease the transferrin concentration in plasma. ...

Transferrin is a protein with a molecular weight of approximately 79.6 kDa. It is the main protein of iron transport (III). It is synthesised mostly in the liver, but also in the choroid plexus of the brain. The transferrin plasma concentration is regulated by the availability of iron in the body: during iron deficiency, the transferrin plasma concentration increases, and returns to normal when the deficiency is treated. A large transferrin plasma concentration may be caused by microcytic hypochromic anaemia (the assay of transferrin may then be used for treatment monitoring), during iron deficiency, but also during pregnancy or even during oestrogen treatment.. A decrease of transferrin can be measured in the case of the acute inflammatory phase, chronic hepatitis or even malnutrition. A nephrotic syndrome can also decrease the transferrin concentration in plasma. ...

This ELISA kit uses the Sandwich-ELISA principle. The micro ELISA plate provided in this kit has been pre-coated with an antigen specific to Human αHSP(Alpha-Hemoglobin Stabilizing Protein). Standards or samples are added to the micro ELISA plate wells and combined with the specific antigen. Then a biotinylated detection antigen specific for Human αHSP(Alpha-Hemoglobin Stabilizing Protein) and Avidin-Horseradish Peroxidase (HRP) conjugate are added successively to each micro plate well and incubated. Free components are washed away. The substrate solution is added to each well. Only those wells that contain Human αHSP(Alpha-Hemoglobin Stabilizing Protein), biotinylated detection antigen and Avidin-HRP conjugate will appear blue in color. The enzyme-substrate reaction is terminated by the addition of stop solution and the color turns yellow. The optical density (OD) is measured spectrophotometrically at a wavelength of 450 nm ± 2 nm. The OD value is proportional to the concentration of Human ...

Accumulating evidence converges on the possibility that chromosomes interact with each other to regulate transcription in trans. To systematically explore the epigenetic dimension of such interactions, we devised a strategy termed circular chromosome conformation capture (4C). This approach involves …

AHSP - alpha-hemoglobin stabilizing protein [ PDB file ] [ PubMed link ] Red blood cells contain an excess of the alpha-chain of hemoglobin over the beta-chain. It is known that excess alpha-globin is unstable, and its precipitation can lead to membrane damage and apoptosis. This phenomenon is the root of the beta-thalassemia phenotype, in which sufferers cannot make sufficient beta-globin. How is the normal excess of alpha-globin kept safe? The answer seems to lie in AHSP - a protein that appears to act as a specific chaperone of alpha-globin, binding to the globin and preventing its precipitation. We have determined the structure of AHSP and used NMR titration methods and mutagenesis to reveal which residues are involved in mediating this specific interaction. In addition, as part of a collaboration with Yigong Shi at Princeton, the structure of the AHSP:a-globin complex was determined by X-ray crystallography. This structure confirmed many of our predictions based on biophysical analysis of ...

Blood Trait Enhancers. Blood cell traits both represent an auspicious model to investigate genetic determinants of human phenotypic diversity and are themselves of direct clinical significance. GWAS have identified numerous loci critical for hematopoiesis, but the underlying elements and genes responsible have in only a few cases been identified and validated. We hypothesize that common genetic enhancer variation is a paradigm for the determination of traits by modulating lineage-specific gene expression. E.g. we find that ~50% of the GWAS-marked loci associated with fundamental erythroid traits have at least one trait-associated variant falling directly within an erythroid enhancer, which represents highly significant enrichment as compared to control variants or enhancers. Many enhancers are thought to be redundant or compensated fine-tuners of gene regulation, for which genetic variation has minimal impact on gene expression. We hypothesize that trait-associated enhancers are critical nodes ...

Journal of Clinical and Diagnostic Research aims to publish findings of doctors at grass root level and post graduate students, so that all unique medical experiences are recorded in literature.

The global market for alpha thalassemia is expected to grow at a CAGR of approximately 8.8% during the forecast period 2017-2023.. Get Exclusive Sample Copy @ https://www.marketresearchfuture.com/sample_request/5148 . Alpha Thalassemia Global Market - Segmentation. The alpha thalassemia is segmented on the basis of type, diagnosis, treatment, and end-users.. On the basis of the type, the market is segmented into hemoglobin Bart hydrops fetalis syndrome or Hb Bart syndrome (the more severe form), HbH disease, silent carrier state, and trait.. On the basis of the diagnosis, the market is segmented into perinatal testing, prenatal testing, and pre-implantation. Further, the perinatal testing sub-categorized into complete blood count (CBC) And DNA testing. The prenatal testing segment is divided into Prenatal Genetic Testing and Chorionic Villus Sampling. On the basis of the treatment, the market is segmented into blood transfusions, iron chelation, bone marrow, or stem cell transplant, surgery and ...

There are at least 4 different and distinct alpha-thalassaemias: silent carrier (1 affected alpha-globin gene), alpha-thalassaemia trait (2 affected alpha-globin genes), Hb H disease (typically 3 affected alpha-globin genes), and Hb Bart hydrops fetalis syndrome (typically deletion of all 4 alpha...

Alpha thalassemia X-linked intellectual disability (ATR-X) syndrome is a rare genetic disorder affecting multiple organ systems of the body. ATR-X syndrome is characterized by mental retardation, characteristic facial features, abnormalities of the genitourinary tract, and alpha thalassemia. Alpha thalassemia, which is...

TY - JOUR. T1 - ζ-/-thalassemic mice are affected by two modifying loci and display unanticipated somatic recombination leading to inherited variation. AU - Leder, Aya. AU - McMenamin, Jennifer. AU - Fontaine, Karen. AU - Bishop, Alexander. AU - Leder, Philip. PY - 2005/3/1. Y1 - 2005/3/1. N2 - Thalassemia is a disease caused by a variety of mutations affecting both the adult and embryonic α- and β-globin loci. A mouse strain carrying an embryonic ζ-globin gene disrupted by the insertion of a PGK-Neo cassette displays an α-thalassemia-like syndrome. Embryonic survival of this ζ-null mouse is variable and strongly influenced by genetic background, the 129/SvEv mouse strain displaying a more severe phenotype than C57BL/6. We have identified two modifying loci on C57BL/6 chromosomes 2 and 5, which affect the penetrance of embryonic lethality in the 129/SvEv mouse. Through this work, we were able to observe an interesting effect on somatic recombination events in thalassemic embryos. We show ...

Alpha thalassemia is an inherited blood disorder. This means it is passed down through the parents genes. It causes anemia in affected children. Anemia is a low red blood cell or low hemoglobin level. Hemoglobin is the part of red blood cells. It carries oxygen to organs, tissues, and cells. Alpha thalassemia affects the production of hemoglobin.

Dear Doctor: My 10 months old son is getting iron and vitamin B supplements for magnets past 5 months when his anemia is diagnosed at magnets age of 5 months (9.2 g/dL). His Hb at magnets age of 7 months is 10.2 g/dL and 8 months Hb is 9.8 g/dL. Doctor recently ordered some more tests, results of which are as under:. HAEMOGRAM. Haemoglobin 10.80 g/dL. Packed Cell volume 32.00%. Leukocyte Count, total 14.20 thou/mm3. RBC Count 3.95 mill/mm3. MCV 81.00 fL. MCH 27.30 pg. MCHC 33.70 g/dL. Platelet Count 624.00 thou/mm3. Leukocyte Count, Differential :. Segmented Neutrophils 30.50%. Lymphocytes 58.80%. Monocytes 8.90%. Eosinophils 1.70%. Basophils 0.10%. E.S.R.. Westergren 21.00 mm(1 hr). Blood Picture. anisocytosis +, microcytic hypochromic RBC+. There is leucocytosis with lymphocytosis. Platelets are increased. No hemoparasite seen.. Reticulocyte Count (Automated) 1.43%. RBC Fragility Test (Osmotic Fragility Test for RBC). Mean Corpuscular Fragility (MCF) 0.46%. Haemoglobin Chromatography, ...

beta-Globins: Members of the beta-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 11. They include epsilon-globin, gamma-globin, delta-globin and beta-globin. There is also a pseudogene of beta (theta-beta) in the gene cluster. Adult HEMOGLOBIN is comprised of two ALPHA-GLOBIN chains and two beta-globin chains.

Trial of HQK-1001 in Beta Thalassemia Intermedia Trial of HQK-1001 in Beta Thalassemia Intermedia in Lebanon After a screening peri