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Fetal haemoglobin

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https://www.readbyqxmd.com/read/29879141/a-survey-of-genetic-fetal-haemoglobin-modifiers-in-nigerian-patients-with-sickle-cell-anaemia
#1
Titilope A Adeyemo, Oyesola O Ojewunmi, Idat A Oyetunji, Helen Rooks, David C Rees, Adebola O Akinsulie, Alani S Akanmu, Swee Lay Thein, Stephan Menzel
Genetic variants at three quantitative trait loci (QTL) for fetal haemoglobin (HbF), BCL11A, HBS1L-MYB and the β-globin gene cluster, have attracted interest as potential targets of therapeutic strategies for HbF reactivation in sickle cell anaemia (SCA). We carried out the first systematic evaluation of critical single nucleotide polymorphisms at these disease modifier loci in Nigerian patients with SCA. Common variants for BCL11A and HBS1L-MYB were strongly associated with HbF levels. At both loci, secondary association signals were detected, illustrating the mapping resolution attainable in this population...
2018: PloS One
https://www.readbyqxmd.com/read/29863146/machine-learning-from-fetal-flow-waveforms-to-predict-adverse-perinatal-outcomes-a-study-protocol
#2
Zahra Hoodbhoy, Babar Hasan, Fyezah Jehan, Bart Bijnens, Devyani Chowdhury
Background: In Pakistan, stillbirth rates and early neonatal mortality rates are amongst the highest in the world. The aim of this study is to provide proof of concept for using a computational model of fetal haemodynamics, combined with machine learning. This model will be based on Doppler patterns of the fetal cardiovascular, cerebral and placental flows with the goal to identify those fetuses at increased risk of adverse perinatal outcomes such as stillbirth, perinatal mortality and other neonatal morbidities...
February 12, 2018: Gates open research
https://www.readbyqxmd.com/read/29666679/intrauterine-fetal-blood-transfusion-descriptive-study-of-the-first-four-years-experience-in-oman
#3
Arwa Z Al-Riyami, Mouza Al-Salmani, Sabria N Al-Hashami, Sabah Al-Mahrooqi, Ali Al-Marhoobi, Sumaiya Al-Hinai, Saif Al-Hosni, Sathiya M Panchatcharam, Zainab A Al-Arimi
Objectives: Haemolytic disease of the fetus and newborn (HDFN) causes hydrops fetalis . The successful treatment of HDFN has been reported with intrauterine blood transfusion (IUT). This study aimed to describe the initial experience with IUT procedures in Oman. Methods: This retrospective observational study took place at the Royal Hospital and Sultan Qaboos University Hospital Blood Bank, Muscat, Oman, and included all women who underwent IUT procedures in Oman between March 2012 and March 2016...
February 2018: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/29605545/a-comparison-of-intrauterine-hemopoietic-cell-transplantation-and-lentiviral-gene-transfer-for-the-correction-of-severe-%C3%AE-thalassemia-in-a-hbbth3-murine-model
#4
Niraja M Dighe, Kang Wei Tan, Lay Geok Tan, Steven S W Shaw, Suzanne M K Buckley, Dedy Sandikin, Nuryanti Johana, Yi-Wan Tan, Arijit Biswas, Mahesh Choolani, Simon N Waddington, Michael N Antoniou, Jerry K Y Chan, Citra N Z Mattar
Major hemoglobinopathies place tremendous strain on global resources. Intrauterine hemopoietic cell transplantation (IUHCT) and gene transfer (IUGT) can potentially reduce perinatal morbidities with greater efficacy than postnatal therapy alone. We performed both procedures in the thalassemic HbbTh3/+ mouse. Intraperitoneal delivery of co-isogenic cells at embryonic days13-14 produced dose-dependent chimerism. High-dose adult bone marrow (BM) cells maintained 0.2-3.1% chimerism over ~24 weeks and treated heterozygotes (HET) demonstrated higher chimerism than wild-type (WT) pups (1...
June 2018: Experimental Hematology
https://www.readbyqxmd.com/read/29542249/correlation-between-plasma-ferritin-level-and-gestational-diabetes-mellitus-and-its-impact-on-fetal-macrosomia
#5
Zhiguo Wang, Hai-Bo Fan, Wan-Wei Yang, Xiao-Dong Mao, Shu-Hang Xu, Xiao-Ping Ma, Gui-Ping Wan, Xiao-Ming Yao, Keyang Chen
AIMS/INTRODUCTION: To explore the relationship between plasma iron levels and gestational diabetes mellitus, as well as its impact on macrosomia. MATERIALS AND METHODS: We retrospectively compared ferritin level and other characteristics between pregnant women with gestational diabetes mellitus (GDM) and pregnant women without GDM. The correlation between the levels of plasma ferritin, glucose and hemoglobin was explored. Meanwhile, we assessed the risk factors of macrosomia...
March 14, 2018: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/29479942/recent-perspectives-of-pediatric-%C3%AE-thalassaemias
#6
Qi An, Conghai Fan, Shumei Xu
β-thalassaemia is a potentially lethal hereditary anaemia, caused by reduced or absent expression of HBB polypeptide chains of adult haemoglobin (HbA: α2β2). Current curative treatments options are limited to few patients, while alternative, chronic palliative therapy consisting of frequent transfusions coupled with iron chelation therapy, are costly. The above treatments also affect quality of life of patients. A search was conducted in the electronic databases like medline, pubmed, etc. for screening studies reporting various aspects including gene therapy, prevention strategies, blood, transfusion and chelation therapy for the management of β-thalassaemia...
February 23, 2018: Minerva Pediatrica
https://www.readbyqxmd.com/read/29342143/regulation-of-embryonic-haematopoietic-multipotency-by-ezh1
#7
Linda T Vo, Melissa A Kinney, Xin Liu, Yuannyu Zhang, Jessica Barragan, Patricia M Sousa, Deepak K Jha, Areum Han, Marcella Cesana, Zhen Shao, Trista E North, Stuart H Orkin, Sergei Doulatov, Jian Xu, George Q Daley
All haematopoietic cell lineages that circulate in the blood of adult mammals derive from multipotent haematopoietic stem cells (HSCs). By contrast, in the blood of mammalian embryos, lineage-restricted progenitors arise first, independently of HSCs, which only emerge later in gestation. As best defined in the mouse, 'primitive' progenitors first appear in the yolk sac at 7.5 days post-coitum. Subsequently, erythroid-myeloid progenitors that express fetal haemoglobin, as well as fetal lymphoid progenitors, develop in the yolk sac and the embryo proper, but these cells lack HSC potential...
January 17, 2018: Nature
https://www.readbyqxmd.com/read/29223625/development-and-validation-of-a-predictive-model-for-excessive-postpartum-blood-loss-a-retrospective-cohort-study
#8
Ana Rubio-Álvarez, Milagros Molina-Alarcón, Ángel Arias-Arias, Antonio Hernández-Martínez
BACKGROUND: postpartum haemorrhage is one of the leading causes of maternal morbidity and mortality worldwide. Despite the use of uterotonics agents as preventive measure, it remains a challenge to identify those women who are at increased risk of postpartum bleeding. OBJECTIVE: to develop and to validate a predictive model to assess the risk of excessive bleeding in women with vaginal birth. DESIGN: retrospective cohorts study. SETTING: "Mancha-Centro Hospital" (Spain)...
March 2018: International Journal of Nursing Studies
https://www.readbyqxmd.com/read/29205277/clinical-and-genetic-factors-are-associated-with-pain-and-hospitalisation-rates-in-sickle-cell-anaemia-in-cameroon
#9
Ambroise Wonkam, Khuthala Mnika, Valentina J Ngo Bitoungui, Bernard Chetcha Chemegni, Emile R Chimusa, Collet Dandara, Andre P Kengne
We aimed to investigate the clinical and genetic predictors of painful vaso-occlusive crises (VOC) in sickle cell disease (SCD) in Cameroon. Socio-demographics, clinical variables/events and haematological indices were acquired. Genotyping was performed for 40 variants in 17 pain-related genes, three fetal haemoglobin (HbF)-promoting loci, two kidney dysfunctions-related genes, and HBA1/HBA2 genes. Statistical models using regression frameworks were performed in R® . A total of 436 hydoxycarbamide- and opioid-naïve patients were studied; median age was 16 years...
January 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29193029/recent-progress-in-understanding-and-manipulating-haemoglobin-switching-for-the-haemoglobinopathies
#10
REVIEW
Divya S Vinjamur, Daniel E Bauer, Stuart H Orkin
The major β-haemoglobinopathies, sickle cell disease and β-thalassaemia, represent the most common monogenic disorders worldwide and a steadily increasing global disease burden. Allogeneic haematopoietic stem cell transplantation, the only curative therapy, is only applied to a small minority of patients. Common clinical management strategies act mainly downstream of the root causes of disease. The observation that elevated fetal haemoglobin expression ameliorates these disorders has motivated longstanding investigations into the mechanisms of haemoglobin switching...
March 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29143315/fetal-haemoglobin-induction-in-sickle-cell-disease
#11
REVIEW
Alireza Paikari, Vivien A Sheehan
Fetal haemoglobin (HbF, α2γ2) induction has long been an area of investigation, as it is known to ameliorate the clinical complications of sickle cell disease (SCD). Progress in identifying novel HbF-inducing strategies has been stymied by limited understanding of gamma (γ)-globin regulation. Genome-wide association studies (GWAS) have identified variants in BCL11A and HBS1L-MYB that are associated with HbF levels. Functional studies have established the roles of BCL11A, MYB, and KLF1 in γ-globin regulation, but this information has not yielded new pharmacological agents...
January 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/28880374/skeletal-and-myocardial-microvascular-blood-flow-in-hydroxycarbamide-treated-patients-with-sickle-cell-disease
#12
Vandana Sachdev, Stanislav Sidenko, Melinda D Wu, Caterina P Minniti, Hwaida Hannoush, Cynthia L Brenneman, Myron A Waclawiw, Andrew E Arai, Alan N Schechter, Gregory J Kato, Jonathan R Lindner
In sickle cell disease (SCD), abnormal microvascular function combined with chronic anaemia predisposes patients to perfusion-demand mismatch. We hypothesized that skeletal muscle and myocardial perfusion, normalized to the degree of anaemia, is reduced at basal-state compared to controls, and that this defect is ameliorated by hydroxycarbamide (HC; also termed hydroxyurea) therapy. Twenty-one SCD patients, of whom 15 were treated with HC, and 27 controls underwent contrast-enhanced ultrasound (CEU) perfusion imaging of the forearm as well as the myocardium...
November 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28749037/transfusion-for-sickle-cell-disease-in-pregnancy-a-single-centre-survey
#13
J Sharif, L Byrd, K Stevenson, J Raddats, E Morsman, K Ryan
INTRODUCTION: Sickle cell disease in pregnancy carries a high risk of maternal and fetal adverse outcomes. The use of prophylactic transfusions to reduce the risk of sickle complications is controversial. Current UK standards do not recommend the routine use of transfusion for sickle pregnancy. We examined transfusion episodes during sickle pregnancies in a single centre over an 11-year period. METHODS: We conducted a retrospective observational study of all pregnancies in patients with sickle cell disease who attended the joint obstetric/haematology clinic over an 11-year period...
July 27, 2017: Transfusion Medicine
https://www.readbyqxmd.com/read/28721142/maternal-lipids-associated-with-large-for-gestational-age-birth-weight-in-women-with-type-1-diabetes-results-from-a-prospective-single-center-study
#14
Paweł Gutaj, Ewa Wender-Ożegowska, Jacek Brązert
INTRODUCTION: Despite improvement in diabetes care over the years, the incidence of macrosomia in type 1 diabetic mothers is still very high and even shows an increasing tendency. It is suggested that other factors that maternal hyperglycemia might be associated with excessive fetal growth in diabetic mothers. The aim of this study was to determine whether maternal lipids might contribute to high rates of large-for-gestational-age (LGA) newborns in women with type 1 diabetes (T1DM). MATERIAL AND METHODS: This prospective, single-center study was performed in a population of women with T1DM admitted to the perinatal center for women with diabetes...
June 2017: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/28700818/fetal-middle-cerebral-artery-doppler-to-time-intrauterine-transfusion-in-red-cell-alloimmunization-a-randomized-trial
#15
J M Dodd, C Andersen, J E Dickinson, J Louise, A Deussen, R M Grivell, L Voto, M D Kilby, R Windrim, G Ryan
OBJECTIVES: To evaluate whether Doppler measurement of middle cerebral artery peak systolic velocity (MCA-PSV) for timing subsequent intrauterine transfusions (IUTs) in fetuses that had undergone one IUT for anemia secondary to red-cell alloimmunization is non-inferior to timing based on expected decrease in fetal hematocrit (Hct) or fetal hemoglobin level, without compromising infant hemoglobin at birth. METHODS: This was an international, pragmatic multicenter randomized controlled trial...
March 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28689691/variability-of-homozygous-sickle-cell-disease-the-role-of-alpha-and-beta-globin-chain-variation-and-other-factors
#16
REVIEW
Graham R Serjeant, Elliott Vichinsky
The single base molecular substitution characterizing sickle cell haemoglobin, β6 glu→val, might be expected to result in predictable haematological and clinical features. However, the disease manifests remarkable diversity believed to reflect the interaction with other genetic and environmental factors. Some of the genetic modifiers include the beta globin haplotypes, alpha thalassaemia, factors influencing the persistence of fetal haemoglobin and the effects of the environment are addressed in this review...
May 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28643346/red-blood-cells-free-%C3%AE-haemoglobin-pool-a-biomarker-to-monitor-the-%C3%AE-thalassemia-intermedia-variability-the-alphapool-study
#17
Corinne Vasseur, Elisa Domingues-Hamdi, Katia Ledudal, Philippe Le Corvoisier, Caroline Barau, Bijan Ghaleh, Amandine Rialland, Serge Pissard, Frédéric Galactéros, Véronique Baudin-Creuza
The severity of β-thalassaemia (β-thal) intermedia is mainly correlated to the degree of imbalanced α/non α-globin chain synthesis. The phenotypic diversity of β-thal depends on this imbalance and reflects all possible combinations of α- and β-globin genotypes, levels of fetal haemoglobin (HbF) and co-inheritance of other modulating factors. This study aimed to demonstrate the validity of a new surrogate of α/non α-globin biosynthetic ratio by measuring the soluble α-Hb pool in lysed red blood cells...
October 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28593771/-rare-forms-of-feto-fetal-transfusion-in-a-clinical-practice
#18
H Kováčová, D Matura, O Šimetka, J Pannová, P Delongová
OBJECTIVE: To analyze monochorionic twin pregnancies with twin anemia polycythemia sequence (TAPS) and acute peripartal twin to twin syndrome (aTTTS), to compare their prenatal management and perinatal outcome. METHODS: Retrospective analysis of monochorionic biamniotic twin pregnancies without signs of chronic TTTS within a period 10/2010 to 10/2013. Further selection of cases with haemoglobin difference in neonates greater than 50 g/l was made, type of feto-fetal haemorrhage was determined and their prenatal and postnatal characteristics were described...
2017: Ceská Gynekologie
https://www.readbyqxmd.com/read/28503326/incomplete-paraplegia-caused-by-extramedullary-hematopoiesis-in-a-patient-with-thalassemia-intermedia
#19
Nurhasyimah Hisamud-Din, Nadia Mohd Mustafah, Aishah Ahmad Fauzi, Natiara Mohamad Hashim
INTRODUCTION: Extramedullary hematopoiesis (EMH) is the production of blood cell precursors outside the bone marrow that occur in various hematological diseases. In patients with thalassemia intermedia, ineffective erythropoiesis drives compensatory EMH in the liver, pancreas, pleura, spleen, ribs and spine. CASE PRESENTATION: We describe a patient with thalassemia intermedia who presented with acute neurological symptoms caused by paraspinal EMH, which responded well to combination therapy of steroid, hypertransfusion, laminectomy and excision of pseudotumor and hydroxyurea therapy to boost the formation of fetal haemoglobin...
2017: Spinal Cord Series and Cases
https://www.readbyqxmd.com/read/28440316/modest-and-severe-maternal-iron-deficiency-in-pregnancy-are-associated-with-fetal-anaemia-and-organ-specific-hypoxia-in-rats
#20
Andrew G Woodman, Alison S Care, Yael Mansour, Stephana J Cherak, Sareh Panahi, Ferrante S Gragasin, Stephane L Bourque
Prenatal iron-deficiency (ID) is known to alter fetal developmental trajectories, which predisposes the offspring to chronic disease in later life, although the underlying mechanisms remain unclear. Here, we sought to determine whether varying degrees of maternal anaemia could induce organ-specific patterns of hypoxia in the fetuses. Pregnant female Sprague Dawley rats were fed iron-restricted or iron-replete diets to induce a state of moderate (M-ID) or severe ID (S-ID) alongside respective controls. Ultrasound biomicroscopy was performed on gestational day (GD)20 to assess uterine and umbilical artery blood flow patterns...
April 25, 2017: Scientific Reports
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