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Fetal Hemoglobin

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https://www.readbyqxmd.com/read/28916711/comparative-analysis-of-three-dimensional-chromosomal-architecture-identifies-a-novel-fetal-hemoglobin-regulatory-element
#1
Peng Huang, Cheryl A Keller, Belinda Giardine, Jeremy D Grevet, James O J Davies, Jim R Hughes, Ryo Kurita, Yukio Nakamura, Ross C Hardison, Gerd A Blobel
Chromatin structure is tightly intertwined with transcription regulation. Here we compared the chromosomal architectures of fetal and adult human erythroblasts and found that, globally, chromatin structures and compartments A/B are highly similar at both developmental stages. At a finer scale, we detected distinct folding patterns at the developmentally controlled β-globin locus. Specifically, new fetal stage-specific contacts were uncovered between a region separating the fetal (γ) and adult (δ and β) globin genes (encompassing the HBBP1 and BGLT3 noncoding genes) and two distal chromosomal sites (HS5 and 3'HS1) that flank the locus...
September 15, 2017: Genes & Development
https://www.readbyqxmd.com/read/28913922/a-clinically-meaningful-fetal-hemoglobin-threshold-for-children-with-sickle-cell-anemia-during-hydroxyurea-therapy
#2
Jeremie H Estepp, Matthew P Smeltzer, Guolian Kang, Chen Li, Winfred C Wang, Christina Abrams, Banu Aygun, Russell E Ware, Kerri Nottage, Jane S Hankins
Hydroxyurea has proven clinical benefits and is recommended to be offered to all children with sickle cell anemia (SCA), but the optimal dosing regimen remains controversial. Induction of red blood cell fetal hemoglobin (HbF) by hydroxyurea appears to be dose-dependent. However, it is unknown whether maximizing HbF% improves clinical outcomes. HUSTLE (NCT00305175) is a prospective observational study with a primary goal of describing the long-term clinical effects of hydroxyurea escalated to maximal tolerated dose (MTD) in children with SCA...
September 14, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28901454/%C3%AE-%C3%A2-thalassemia-caused-by-compound-heterozygous-mutations-and-cured-by-bone-marrow-transplantation-a-case-report
#3
Liusong Wu, Zhiyu Peng, Sen Lu, Mei Tan, Ying Rong, Runmei Tian, Yuhang Yang, Yan Chen, Jindong Chen
In the present study, a rare familial case of severe thalassemia with compound spontaneous mutations is reported. A 2.5‑year‑old boy, who suffered from severe anemia with yellowish skin, enlarged liver and spleen, was provided with a blood transfusion every 20 days to maintain hemoglobin levels between 90 and 100 g/l. Sanger sequencing combined with reverse transcription‑quantitative polymerase chain reaction (RT‑qPCR) and Gap‑PCR revealed that the proband was a carrier of 4 compound heterozygous mutations: Hemoglobin subunit β (HBB):IVS‑II‑654(C>T)β+; Southeast Asian‑type‑hereditary persistence of fetal hemoglobin (SEA‑HPFH); HBB:c316‑148G>T; hemoglobin subunit α2 (HBA2):c...
September 12, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28891254/fetal-isovolumetric-time-intervals-as-a-marker-of-abnormal-cardiac-function-in-fetal-anemia-from-homozygous-alpha-thalassemia-1-disease
#4
Fuanglada Tongprasert, Kasemsri Srisupundit, Suchaya Luewan, Kuntharee Traisrisilp, Phudit Jatavan, Theera Tongsong
OBJECTIVE: To determine whether fetal isovolumetric time intervals can be an early sonographic marker of fetal anemia in fetuses with homozygous alpha thalassemia-1. METHODS: Pregnancies at risk for fetal homozygous alpha thalassemia-1 disease at 18-22 weeks were recruited before cordocentesis for hemoglobin typing. Isovolumetric contraction time (ICT) and isovolumetric relaxation time (IRT) intervals were measured by placing pulsed wave Doppler sample volume within the left ventricle to obtain the mitral and aortic waveform...
August 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28890145/clinical-implications-of-the-association-of-fetal-hemoglobin-with-peripheral-oxygen-saturation-in-sickle-cell-disease
#5
Osheiza Abdulmalik, Kenneth I Ataga
No abstract text is available yet for this article.
September 5, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28886314/alterations-on-high-hbf-levels-may-be-associated-with-klf1-gene-mutations
#6
M Aydin, E Rencuzogullari, S Bayram, Y Sevgiler, A Genc
The KLF1 gene synthesizes a transcription factor in the zinc finger structure that regulates the transcription of β-, γ-globin, and Foxm1 genes. This factor plays an important role in the erythropoiesis mechanism by modifying the chromatin structure and is involved in the regulation of transcription in the opening of the β-globin gene. β-globin gene expression could be disrupted by a mutation, which may be a possible cause of a disruption in regulation of the promotor of the β-globin gene where the KLF1 transcription factor binds...
August 30, 2017: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/28880867/oral-tetrahydrouridine-and-decitabine-for-non-cytotoxic-epigenetic-gene-regulation-in-sickle-cell-disease-a-randomized-phase-1-study
#7
RANDOMIZED CONTROLLED TRIAL
Robert Molokie, Donald Lavelle, Michel Gowhari, Michael Pacini, Lani Krauz, Johara Hassan, Vinzon Ibanez, Maria A Ruiz, Kwok Peng Ng, Philip Woost, Tomas Radivoyevitch, Daisy Pacelli, Sherry Fada, Matthew Rump, Matthew Hsieh, John F Tisdale, James Jacobberger, Mitch Phelps, James Douglas Engel, Santhosh Saraf, Lewis L Hsu, Victor Gordeuk, Joseph DeSimone, Yogen Saunthararajah
BACKGROUND: Sickle cell disease (SCD), a congenital hemolytic anemia that exacts terrible global morbidity and mortality, is driven by polymerization of mutated sickle hemoglobin (HbS) in red blood cells (RBCs). Fetal hemoglobin (HbF) interferes with this polymerization, but HbF is epigenetically silenced from infancy onward by DNA methyltransferase 1 (DNMT1). METHODS AND FINDINGS: To pharmacologically re-induce HbF by DNMT1 inhibition, this first-in-human clinical trial (NCT01685515) combined 2 small molecules-decitabine to deplete DNMT1 and tetrahydrouridine (THU) to inhibit cytidine deaminase (CDA), the enzyme that otherwise rapidly deaminates/inactivates decitabine, severely limiting its half-life, tissue distribution, and oral bioavailability...
September 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28879539/synergistic-effect-of-two-%C3%AE-globin-gene-cluster-mutations-leading-to-the-hereditary-persistence-of-fetal-hemoglobin-hpfh-phenotype
#8
Priya Hariharan, Madhavi Sawant, Manju Gorivale, Ruma Manchanda, Roshan Colah, K Ghosh, Anita Nadkarni
Co-inheritance of gamma and beta globin gene mutations in a compound heterozygous state is rare but of clinical interest as it provides an important data on understanding the HbF expression. Hematological analysis was carried out (Sysmex KX-21). F-cells were enumerated using flow cytometry. Beta globin gene was analysed by CRDB technique and by DNA sequencing. Gamma globin promoter region was sequenced and expression studies were carried out using real time Taqman assay. We report a family, where two inherited defects of the β globin gene cluster segregate...
September 6, 2017: Molecular Biology Reports
https://www.readbyqxmd.com/read/28872664/middle-cerebral-artery-doppler-reference-centile-charts-for-the-prediction-of-fetal-anemia-in-a-population-from-india
#9
Manisha Kumar, Tarul Umrawal, Anuradha Singh
OBJECTIVE: To construct reference charts for the fetal middle cerebral artery (MCA) peak systolic velocity (PSV) and the corresponding cord blood hemoglobin values at 24-40 weeks of pregnancy for the identification of fetal anemia. METHODS: In a cross-sectional study, 300 women with a pregnancy duration of 24-40 weeks planned for delivery within 72 hours underwent a Doppler study of the MCA and cord blood hemoglobin estimation at delivery. Regression analysis was used to construct reference charts...
September 5, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28872090/-therapeutic-effect-of-one-day-outpatient-on-gestational-diabetes-mellitus-patients
#10
Nianquan Liao, Jiayou Luo, Xu Zhou, Jiabi Qin
To study the effect of one-day outpatient intervention on gestational diabetes mellitus (GDM) patients, and to explore the pregnancy outcome relevant to GDM patients and their fetus.
 Methods: The GDM patients were divided into two groups according to their own intention to the one-day outpatient. According to systematic sampling method, we chose 200 GDM patients from the above 2 groups, respectively. The 200 GDM patients in the control group were matched the observation group with the age and gestational age, then the pregnancy outcome was tracked...
August 28, 2017: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/28870138/a-plea-for-the-newborn-diagnosis-of-hb-s-hereditary-persistence-of-fetal-hemoglobin
#11
Graham R Serjeant, Beryl E Serjeant, Ian R Hambleton, Matthew Oakley, Swee Lay Thein, Barnaby Clark
The gene for hereditary persistence of fetal hemoglobin (HPFH) in the Caribbean is much more common than previously estimated. To avoid labeling persons with the benign syndrome Hb S (HBB: c.20A>T)/HPFH as a disease and wasting scarce resources, parental studies are recommended when newborn screening reveals a pattern consistent with an SS phenotype.
September 5, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28863410/appearance-of-abnormal-cardiothoracic-ratio-of-fetuses-with-hemoglobin-bart-s-disease-life-table-analysis
#12
Chanane Wanapirak, Supatra Sirichotiyakul, Suchaya Luewan, Kasemsri Srisupundit, Fuanglada Tongprasert, Theera Tongsong
Objective To determine the timeline of the first appearance of an increased CT ratio of fetuses with hemoglobin (Hb) Bart's disease. Materials and Methods A prospective longitudinal study was conducted on pregnancies at risk for fetal Hb Bart's disease. Sonographic markers including cardiothoracic (CT) ratio and middle cerebral artery peak systolic velocity (MCA-PSV) were serially assessed and recorded from the first trimester. The definite diagnosis of fetal Hb Bart's disease based on DNA analysis (CVS), or fetal Hb typing (HPLC; cordocentesis) was performed at the first appearance of an increased CT ratio...
September 1, 2017: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/28860167/measuring-high-altitude-adaptation
#13
Lorna G Moore
High altitudes (>8000 ft or 2500 m) provide an experiment of nature for measuring adaptation and the physiological processes involved. Studies conducted over the past ~25 years in Andeans, Tibetans, and less often Ethiopians show varied but distinct O2 transport traits from those of acclimatized newcomers, providing indirect evidence for genetic adaptation to high altitude. Short-term (acclimatization, developmental) and long-term (genetic) responses to high altitude exhibit a temporal gradient such that, while all influence O2 content, the latter also improve O2 delivery and metabolism...
August 31, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/28854868/comparative-developmental-toxicity-evaluation-of-di-n-hexyl-phthalate-and-dicyclohexyl-phthalate-in-rats
#14
Müfide Aydogan Ahbab, Celal Güven, Evrim Arzu Koçkaya, Nurhayat Barlas
To investigate the effects of di- n-hexyl phthalate (DHP) and dicyclohexyl phthalate (DCHP) on the development of fetus and placenta in utero, pregnant rats were exposed to DHP or DCHP at dosages of 0, 20, 100, and 500 mg/kg bw/day, by gavage, on gestational days 6-19. Anogenital distance (AGD) and AGD-body weight(1/3) ratio of female fetuses decreased in all treatment groups in a non-dose-response way. The ossification centers of bones and the intensity of Alizarin red stain of the fetuses decreased in all treatment groups...
January 1, 2017: Toxicology and Industrial Health
https://www.readbyqxmd.com/read/28851297/an-a%C3%AE-globin-g-a-gene-polymorphism-associated-with-%C3%AE-0-39-thalassemia-globin-gene-and-high-fetal-hemoglobin-production
#15
Giulia Breveglieri, Nicoletta Bianchi, Lucia Carmela Cosenza, Maria Rita Gamberini, Francesco Chiavilli, Cristina Zuccato, Giulia Montagner, Monica Borgatti, Ilaria Lampronti, Alessia Finotti, Roberto Gambari
BACKGROUND: Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) has recently gained great attention, in order to stratify β-thalassemia patients with respect to expectancy of the first transfusion, need for annual intake of blood, response to HbF inducers (the most studied of which is hydroxyurea)...
August 29, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28844412/fetal-hemoglobin-is-associated-with-peripheral-oxygen-saturation-in-sickle-cell-disease-in-tanzania
#16
Siana Nkya, Josephine Mgaya, Florence Urio, Abel Makubi, Swee Lay Thein, Stephan Menzel, Sharon E Cox, Charles R Newton, Fenella J Kirkham, Bruno P Mmbando, Julie Makani
Fetal hemoglobin (HbF) and peripheral hemoglobin oxygen saturation (SpO2) both predict clinical severity in sickle cell disease (SCD), while reticulocytosis is associated with vasculopathy, but there are few data on mechanisms. HbF, SpO2 and routine clinical and laboratory measures were available in a Tanzanian cohort of 1175 SCD individuals aged≥5years and the association with SpO2 (as response variable transformed to a Poisson distribution) was assessed by negative binomial model with age and sex as covariates...
August 8, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28811696/relationship-between-fetal-loss-and-serum-gonadal-hormones-level-in-experimental-antiphospholipid-syndrome-mouse
#17
Shanmugam Velayuthaprabhu, Arunachalam Chinnathambi, Sulaiman Ali Alharbi, Hidehiko Matsubayashi, Govindaraju Archunan
To investigate the effects of antiphospholipid antibodies on establishment of pregnancy and changes in hormones such as estradiol-17ß (E2) and progesterone (P) levels in circulation. Hence, mice were immunized with human β2-Glycoprotein I (β2GPI) and the effect of these antibodies on fetuses weight, placental obsrvation, Serum levels of P and E2 in pregnant mice, hematological were observed. Immunization of mice with human β2-GPI resulted in elevated levels of antiphospholipid antibodies. The experimentally induced antiphospholipid syndrome mouse showed higher rate of fetal resorption, low number of viable fetuses, and "placental abnormalities"...
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28805619/intrauterine-fetal-death-caused-by-seatbelt-injury
#18
Shizuka Yamada, Koji Nishijima, Jin Takahashi, Nozomu Takahashi, Chiyo Tamamura, Yoshio Yoshida
OBJECTIVE: Severe motor vehicle accidents involving pregnant women can result in fetal and neonatal death. We describe a case in which fetal death occurred due to relatively mild seatbelt injuries and present the characteristic magnetic resonance imaging (MRI) findings of the placenta. CASE REPORT: A 26-year-old primigravid woman at 20 weeks gestation was involved in an automobile accident. Although she suffered only a seatbelt injury, fetal death subsequently occurred...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28800727/a-phased-snp-based-classification-of-sickle-cell-anemia-hbb-haplotypes
#19
Elmutaz M Shaikho, John J Farrell, Abdulrahman Alsultan, Hatem Qutub, Amein K Al-Ali, Maria Stella Figueiredo, David H K Chui, Lindsay A Farrer, George J Murphy, Gustavo Mostoslavsky, Paola Sebastiani, Martin H Steinberg
BACKGROUND: Sickle cell anemia causes severe complications and premature death. Five common β-globin gene cluster haplotypes are each associated with characteristic fetal hemoglobin (HbF) levels. As HbF is the major modulator of disease severity, classifying patients according to haplotype is useful. The first method of haplotype classification used restriction fragment length polymorphisms (RFLPs) to detect single nucleotide polymorphisms (SNPs) in the β-globin gene cluster. This is labor intensive, and error prone...
August 11, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28783617/an-age-dependent-response-to-hydroxyurea-in-pediatric-sickle-cell-anemia-patients-with-alpha-thalassemia-trait
#20
Lisa Figueiredo, Kerry Morrone, Catherine Wei, Karen Ireland, Hillel W Cohen, Catherine Driscoll, Deepa Manwani
Hydroxyurea (HU) is a key drug therapy for individuals with sickle cell anemia (SCA), yet its clinical and hematologic responses can be variable. Various studies have reported the role of α-thalassemia as one of the most prevalent heritable traits that may modify HU response. We provide data from 62 pediatric and adolescent patients with SCA, 26 with co-inherited α-thalassemia trait. Our data suggest that altered hematologic and clinical responses to HU therapy are noted in adolescent SCA individuals with co-inherited α-thalassemia trait...
July 31, 2017: Blood Cells, Molecules & Diseases
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