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Fetal Hemoglobin

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https://www.readbyqxmd.com/read/29302041/analysis-of-cytokine-immune-response-profile-in-response-to-inflammatory-stimuli-in-mice-with-genetic-defects-in-fetal-and-adult-hemoglobin-chain-expression
#1
Ismat Khatri, Christian Alexander, Klaus Brandenburg, Zhiqi Chen, Adrian Heini, Didier Heumann, Jean-Pierre Mach, Vienna Mazzoli, Ernst Rietschel, Alexey Tersikh, Artur Ulmer, Kai Yu, Ulrich Zähringer, Reginald Gorczynski
Injections of a crude fetal sheep liver extract (FSLE) containing fetal hemoglobin, MPLA, and glutathione (GSSH) reversed cytokine changes in aged mice. To investigate the role of fetal hemoglobin we derived mice with homzygous deletions for either of the two major βchains, HgbβmaKO or HgbβmiKO. Hgbβmi is the most prominent fetal Hgbβ chain, with Hgbβma more prominent in adult mice. Mice lacking another fetal Hgb chain, HgbεKO, died in utero. CHO cells transfected with cloned Hgb chains were used to produce proteins for preparation of rabbit heteroantibodes...
January 4, 2018: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/29296901/low-fetal-hemoglobin-percentage-is-associated-with-silent-brain-lesions-in-adults-with-homozygous-sickle-cell-disease
#2
David Calvet, Titien Tuilier, Nicolas Mélé, Guillaume Turc, Anoosha Habibi, Nassim Ait Abdallah, Loubna Majhadi, François Hemery, Myriam Edjlali, Frédéric Galacteros, Pablo Bartolucci
Silent white matter changes (WMCs) on brain imaging are common in individuals with sickle cell disease (SCD) and are associated with cognitive deficits in children. We investigated the factors predictive of WMCs in adults with homozygous SCD and no history of neurological conditions. Patients were recruited from a cohort of adults with homozygous SCD followed up at an adult sickle cell referral center for which steady-state measurements of biological parameters and magnetic resonance imaging scans of the brain were available...
December 12, 2017: Blood Advances
https://www.readbyqxmd.com/read/29296711/klf1-directly-activates-expression-of-the-novel-fetal-globin-repressor-zbtb7a-lrf-in-erythroid-cells
#3
Laura J Norton, Alister P W Funnell, Jon Burdach, Beeke Wienert, Ryo Kurita, Yukio Nakamura, Sjaak Philipsen, Richard C M Pearson, Kate G R Quinlan, Merlin Crossley
Genes encoding the human β-like hemoglobin proteins undergo a developmental switch from fetal γ-globin to adult β-globin expression around the time of birth. β-hemoglobinopathies, such as sickle-cell disease and β-thalassemia, result from mutations affecting the adult β-globin gene. The only treatment options currently available carry significant adverse effects. Analyses of heritable variations in fetal hemoglobin (HbF) levels have provided evidence that reactivation of the silenced fetal γ-globin genes in adult erythroid cells is a promising therapy...
April 25, 2017: Blood Advances
https://www.readbyqxmd.com/read/29286937/hemoperitoneum-in-peripartum-a-case-series
#4
A Lemaire, M Bonnin, B Storme, A Fournet-Fayard, G Rosano, L Vernis, S Cayot, M Accocebery, P Dechelotte, L Boyer, D Gallot, E Futier, J M Constantin, J E Bazin
Hemorrhages are the first cause of perinatal deaths in French women. Thirteen percent of these deaths are not linked to obstetrical problems but rather to hemoperitoneum. These incidents are under-diagnosed and as a result, treatment is delayed and fetal and maternal mortality increases. We report three cases of patients, all White female in their last trimester of a non-problematic pregnancy presenting with hemoperitoneum and resulting in different outcomes. The analysis of published materials and of our cases leads us to infer that a diagnosis of hemoperitoneum must be considered in pregnant women when abdominal pain, symptoms of shock and a decrease in hemoglobin are associated...
2017: Journal of Neonatal-perinatal Medicine
https://www.readbyqxmd.com/read/29282998/clinical-significance-of-neuregulin-4-nrg4-in-gestational-diabetes-mellitus
#5
Meryem Kurek Eken, Cigdem Yayla Abide, Gulcin Sahin Ersoy, Tugba Altun Ensari, Oya Pekin, Ozge Cevik
OBJECTIVE: Gestational diabetes mellitus (GDM) is defined as glucose intolerance detected during pregnancy. GDM is increasing worldwide and is associated with adverse maternal and fetal outcomes. Neuregulin 4 (NGR4) is epidermal growth factor like signaling molecule. It plays an important role in cell to cell communication furthermore recent studies indicate that NRG4 may work as a novel adipokine with a possible role in maintaining energy and metabolic homeostasis. The aim of the present study was to assess serum NRG4 levels along with several metabolic parameters in patients diagnosed with gestational diabetic mellitus...
December 28, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29280474/anemia-in-pregnancy-a-pragmatic-approach
#6
Dongmei Sun, Anne McLeod, Shital Gandhi, Ann Kinga Malinowski, Nadine Shehata
Importance: Anemia is common in pregnancy, ranging from 5.4% in developed countries to more than 80% in developing countries. Anemia in pregnancy has been associated with prematurity, low birth weight, and adverse pregnancy outcomes. Objective: This review uses clinical vignettes to illustrate the clinical presentations, approach to diagnosis, maternal and fetal implications, and treatment for the common etiologies of anemia in pregnancy. Evidence Acquisition: Literature review...
December 2017: Obstetrical & Gynecological Survey
https://www.readbyqxmd.com/read/29279787/acute-chest-syndrome-in-children-with-sickle-cell-disease
#7
REVIEW
Shilpa Jain, Nitya Bakshi, Lakshmanan Krishnamurti
Acute chest syndrome (ACS) is a frequent cause of acute lung disease in children with sickle cell disease (SCD). Patients may present with ACS or may develop this complication during the course of a hospitalization for acute vaso-occlusive crises (VOC). ACS is associated with prolonged hospitalization, increased risk of respiratory failure, and the potential for developing chronic lung disease. ACS in SCD is defined as the presence of fever and/or new respiratory symptoms accompanied by the presence of a new pulmonary infiltrate on chest X-ray...
December 1, 2017: Pediatric Allergy, Immunology, and Pulmonology
https://www.readbyqxmd.com/read/29276718/a-nonhuman-primate-transplantation-model-to-evaluate-hematopoietic-stem-cell-gene-editing-strategies-for-%C3%AE-hemoglobinopathies
#8
Olivier Humbert, Christopher W Peterson, Zachary K Norgaard, Stefan Radtke, Hans-Peter Kiem
Reactivation of fetal hemoglobin (HbF) is a promising approach for the treatment of β-hemoglobinopathies and the targeting of genes involved in HbF regulation is under intensive investigation. Here, we established a nonhuman primate (NHP) transplantation model to evaluate hematopoietic stem cell (HSC)-based gene editing strategies aimed at reactivating HbF. We first characterized the transient HbF induction to autologous HSC transplantation in pigtailed macaques, which was comparable in duration and amplitude to that of human patients...
March 16, 2018: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/29262476/-short-stature-optic-nerve-atrophy-and-pelger-hu%C3%A3-t-anomaly-syndrome-with-antibody-immunodeficiency-and-aplastic-anemia-a-case-report-and-literature-review
#9
T Y He, N Zhang, Y Xia, Y Luo, C R Li, J Yang
Objective: To investigate the clinical features and genetic characteristics of cases with NBAS gene defects. Method: Characteristics of clinical materials, immunological data and gene mutation of the first case in China with NBAS gene mutation were retrospectively analyzed. The related literature was searched by using search terms'NBAS'. Result: A 2-year-four-month old girl, was admitted due to 'fever and pallor for one day'. There was an intrauterine growth retardation at her fetal stage. Since her birth, she had suffered from recurrent infections and development delay was accompanied by persistent liver dysfunction...
December 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29240037/fetal-anemia-causing-hydrops-fetalis-from-an-alpha-globin-variant-homozygous-hemoglobin-constant-spring
#10
Patcharee Komvilaisak, Ratana Komvilaisak, Arunee Jetsrisuparb, Surapon Wiangnon, Junya Jirapradittha, Pakaphan Kiatchoosakun, Goonapa Fucharoen
BACKGROUND: Fetal anemia is often assumed to be due to red cell alloimmunization and Parvovirus infection, and can lead to hydrops fetalis and death in utero. Other causes, such as mutations of hemoglobin alpha, are less commonly considered. METHODS: We report 7 cases with fetal anemia causing hydrops fetalis. Serial Doppler ultrasound for measurement peak systolic velocity (PSV) of middle cerebral artery (MCA) was used for evaluation of fetal anemia. Fetal anemia is suggested if the MCA/PSV ratio is >1...
December 12, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29234149/effect-of-maternal-iron-deficiency-anemia-on-fetal-neural-development
#11
Sriparna Basu, Dinesh Kumar, Shampa Anupurba, Ashish Verma, Ashok Kumar
OBJECTIVE: Perinatal iron deficiency may have deleterious consequences on fetal neural development. The present study was conducted to determine the effect of maternal iron deficiency anemia (IDA) on fetal hippocampal morphogenesis and production of brain-derived neurotrophic factor (BDNF). STUDY DESIGN: Seventy term, singleton neonates born to mothers with IDA (hemoglobin <110g/L and serum ferritin <12 μg/L) formed the study group. Twenty gestational age-matched neonates born to healthy mothers without IDA (hemoglobin ≥110 g/L and serum ferritin >12 μg/L) served as controls...
December 12, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/29227829/a-long-noncoding-rna-from-the-hbs1l-myb-intergenic-region-on-chr6q23-regulates-human-fetal-hemoglobin-expression
#12
Tasha A Morrison, Ibifiri Wilcox, Hong-Yuan Luo, John J Farrell, Ryo Kurita, Yukio Nakamura, George J Murphy, Shuaiying Cui, Martin H Steinberg, David H K Chui
The HBS1L-MYB intergenic region (chr6q23) regulates erythroid cell proliferation, maturation, and fetal hemoglobin (HbF) expression. An enhancer element within this locus, highlighted by a 3-bp deletion polymorphism (rs66650371), is known to interact with the promoter of the neighboring gene, MYB, to increase its expression, thereby regulating HbF production. RNA polymerase II binding and a 50-bp transcript from this enhancer region reported in ENCODE datasets suggested the presence of a long noncoding RNA (lncRNA)...
November 29, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29226473/contributions-to-nucleosome-dynamics-in-chromatin-from-interactive-propagation-of-phosphorylation-acetylation-and-inducible-histone-lysine-basicities
#13
Lois R Manning, James M Manning
The effect of phosphorylation on the basicities of amines in histone H3 peptides and their acetylation kinetics is probed with a mild chemical acetylating agent. Phosphorylation of Ser-10 lowers the rate of chemical acetylation of Lys-9, Lys-14 and Lys-18 by methyl acetyl phosphate in that order consistent with a higher pKa of these Lys residues induced by phosphorylation; basicities increase up to 3 pKa units as a function of distance from Ser-10 phosphate. Enzymic acetylation of Lys residues with high pKa values in nucleosomes is also expected to be enhanced by phosphorylation, consistent with the known mechanism involving binding of protonated amines to N-acetyltransferases; fetal hemoglobin has a related linkage of increased basicity at a specific site, its acetylation, and a resulting decrease in subunit interaction strength...
December 11, 2017: Protein Science: a Publication of the Protein Society
https://www.readbyqxmd.com/read/29200155/a-case-of-congenital-dyserythropoeitic-anemia-type-iv-caused-by-e325k-mutation-in-erythroid-transcription-factor-klf1
#14
Rebecca Ortolano, Melissa Forouhar, Anne Warwick, David Harper
Congenital dyserythropoetic anemias (CDA) represent a heterogeneous group of inherited red cell disorders resulting in ineffective erythropoiesis. Several CDA variants have been identified. KLF1 is a transcription factor required for cell division in erythroid differentiation and maturation, and the switch from fetal to adult hemoglobin. Mutations in KLF1 gene can result in a wide range of phenotypes. This case illustrates the E325K mutation in KLF1 presenting with severe anemia in infancy, persistently elevated fetal hemoglobin, and progressive improvement with age...
December 1, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29195085/clinical-and-hematological-profile-in-a-newborn-cohort-with-hemoglobin-sc
#15
Paulo V Rezende, Millane V Santos, Gustavo F Campos, Laura L M Vieira, Maristela B Souza, André R Belisário, Celia M Silva, Marcos B Viana
OBJECTIVES: Hemoglobin SC is the second most common variant of sickle-cell disease worldwide, after hemoglobin SS. The objectives of the study were to describe the clinical and laboratory characteristics of hemoglobin SC disease in children from a newborn screening program and treated at a blood donor center. METHODOLOGY: This study assessed a cohort of 461 infants born between 01/01/1999 and 12/31/2012 and followed-up until 12/31/2014. Clinical events were expressed as rates for 100 patient-years, with 95% confidence intervals...
November 28, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/29195008/consensus-predictive-model-for-the-prediction-of-human-k562-cell-growth-inhibition-through-enalos-cloud-platform
#16
Antreas Afantitis, Georgios Leonis, Roberto Gambari, Georgia Melagraki
Beta thalassemia is an inherited hematologic disorder caused by various mutations of the β-globin gene, thus resulting in a significant decrease of adult hemoglobin (HbA) production. Since no other specific treatment exists to date, apart from blood transfusion and chelation therapy, the increase of fetal hemoglobin (HbF) levels by drug molecules is considered of great potential in β-thalassemia treatment, being expected to counterbalance the impaired production of HbA. Within this context, we have worked towards the development of a predictive model that will allow the identification of new possible HbF inducers...
December 1, 2017: ChemMedChem
https://www.readbyqxmd.com/read/29186860/bcl11a-mrna-targeting-by-mir-210-a-possible-network-regulating-%C3%AE-globin-gene-expression
#17
Jessica Gasparello, Enrica Fabbri, Nicoletta Bianchi, Giulia Breveglieri, Cristina Zuccato, Monica Borgatti, Roberto Gambari, Alessia Finotti
The involvement of microRNAs in the control of repressors of human γ-globin gene transcription has been firmly demonstrated, as described for the miR-486-3p mediated down-regulation of BCL11A. On the other hand, we have reported that miR-210 is involved in erythroid differentiation and, possibly, in γ-globin gene up-regulation. In the present study, we have identified the coding sequence of BCL11A as a possible target of miR-210. The following results sustain this hypothesis: (a) interactions between miR-210 and the miR-210 BCL11A site were demonstrated by SPR-based biomolecular interaction analysis (BIA); (b) the miR-210 site of BCL11A is conserved through molecular evolution; (c) forced expression of miR-210 leads to decrease of BCL11A-XL and increase of γ-globin mRNA content in erythroid cells, including erythroid precursors isolated from β-thalassemia patients...
November 26, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29183008/correlates-of-pulmonary-function-in-children-with-sickle-cell-disease-and-elevated-fetal-hemoglobin
#18
Adekunle D Adekile, Asmaa Azab, Abdullah Owayed, Mousa Khadadah
OBJECTIVE: The current study was carried out to compare pulmonary function tests (PFT) in pediatric Kuwaiti sickle cell disease (SCD) patients to age-matched normal controls and to investigate the association of PFTS to selected clinical and laboratory parameters. SUBJECTS AND METHODS: There were 38 patients with SCD and 36 controls in the study. The patients were recruited from the Pediatric Hematology Clinics of Mubarak Al-Kabeer and Al-Amiri Hospitals, Kuwait and were studied in steady state...
November 28, 2017: Medical Principles and Practice: International Journal of the Kuwait University, Health Science Centre
https://www.readbyqxmd.com/read/29159826/pharmacological-and-molecular-approaches-for-the-treatment-of-%C3%AE-hemoglobin-disorders
#19
REVIEW
Neelam Lohani, Nupur Bhargava, Anjana Munshi, Sivaprakash Ramalingam
β-hemoglobin disorders, such as β-thalassemia and sickle cell anemia are among the most prevalent inherited genetic disorders worldwide. These disorders are caused by mutations in the gene encoding hemoglobin-β (HBB), a vital protein found in red blood cells (RBCs) that carries oxygen from lungs to all parts of the human body. As a consequence, there has been an enduring interest in this field in formulating therapeutic strategies for the treatment of these diseases. Currently, there is no cure available for hemoglobin disorders, although, some patients have been treated with bone marrow transplantation, whose scope is limited because of the difficulty in finding a histocompatible donor and also due to transplant-associated clinical complications that can arise during the treatment...
November 20, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29156994/experimental-diabetes-impairs-maternal-reproductive-performance-in-pregnant-wistar-rats-and-their-offspring
#20
Leticia Bequer, Tahiry Gómez, José L Molina, Alain Álvarez, Claudia Chaviano, Sonia Clapés
The aim of this study was to determine the effect of mild hyperglycemia on metabolism during pregnancy, the maternal reproductive performance, and the characteristics of the offspring in neonatal mild diabetic-induced Wistar rats. The experimental diabetes model was generated by neonatal streptozotocin administration (100 mg of streptozotocin/Kg bw/sc) in female Wistar rats. At adulthood, the control and diabetic group were mated. At the 20th day of gestation, a maternal and fetal blood sample were collected for biochemical measurement...
November 20, 2017: Systems Biology in Reproductive Medicine
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