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Fetal haemoglobin

McI Lier, R F Malik, Jhtm van Waesberghe, J W Maas, D A van Rumpt-van de Geest, S F Coppus, J P Berger, B B van Rijn, P F Janssen, M A de Boer, Jip de Vries, F W Jansen, I A Brosens, C B Lambalk, V Mijatovic
OBJECTIVE: To report pregnancy outcomes of SHiP (spontaneous haemoperitoneum in pregnancy) and the association with endometriosis. DESIGN: Retrospective case note review. SETTING: Dutch referral hospitals for endometriosis. SAMPLE: Eleven women presenting with 15 events of SHiP. METHODS: In collaboration with the Dutch Working Group on Endometriosis, unpublished cases of SHiP that occurred in the Netherlands between 2010 and 2015 were retrieved...
October 5, 2016: BJOG: An International Journal of Obstetrics and Gynaecology
A Chico, L Herranz, R Corcoy, O Ramírez, M M Goya, J Bellart, S González-Romero, M Codina, P Sánchez, A Cortázar, D Acosta, M J Picón, J A Rubio, A Megía, M A Sancho, M Balsells, E Solá, N L González, J López-López
OBJECTIVE: To examine the potential role of the type of basal insulin on glycemic control and maternal and foetal outcomes in pregnant women with type 1 diabetes (T1DM). STUDY DESIGN: Retrospective cohort study of pregnancies attended at 18 Spanish tertiary hospitals. INCLUSION CRITERIA: T1DM, singleton pregnancies, delivery between 2002-2010, and use of the same basal and prandial insulin from before pregnancy until delivery. RESULTS: A total of 1534 pregnancies were included...
September 9, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Kerri A Nottage, Russell E Ware, Banu Aygun, Matthew Smeltzer, Guolian Kang, Joseph Moen, Winfred C Wang, Jane S Hankins, Kathleen J Helton
Silent cerebral infarction (SCI) is the most common neurological abnormality among children with sickle cell anaemia (SCA). The effect of hydroxycarbamide (also termed hydroxyurea) on the development and progression of SCI is unclear. We evaluated brain magnetic resonance imaging/angiography (MRI/MRA) in children with SCA receiving long-term hydroxycarbamide therapy. Fifty participants (median 9·4 years, range 1·1-17·3) enrolled in the Hydroxyurea Study of Long-Term Effects (HUSTLE; NCT00305175) underwent brain MRI/MRA and laboratory evaluations before hydroxycarbamide initiation and after 3 and 6 years of treatment to maximum tolerated dose...
October 2016: British Journal of Haematology
Guillaume Lettre, Daniel E Bauer
Sickle-cell disease affects millions of individuals worldwide, but the global incidence is concentrated in Africa. The burden of sickle-cell disease is expected to continue to rise over the coming decades, adding to stress on the health infrastructures of many countries. Although the molecular cause of sickle-cell disease has been known for more than half a century, treatment options remain greatly limited. Allogeneic haemopoietic stem-cell transplantation is the only existing cure but is limited to specialised clinical centres and remains inaccessible for most patients...
June 18, 2016: Lancet
Minerva M Thame, Indira Singh-Minott, Clive Osmond, Roxanne H Melbourne-Chambers, Graham R Serjeant
OBJECTIVE: To assess pregnancy and fetal outcomes in Jamaican subjects with sickle cell-haemoglobin C (SC) disease. STUDY DESIGN: A retrospective chart review over 21 years (1992-2012) of all pregnancies in SC disease and a comparison group matched by gender and date of delivery in mothers with a normal haemoglobin (AA) phenotype at the University Hospital of the West Indies, Jamaica. There were 118 pregnancies in 81 patients with SC disease and 110 pregnancies in 110 in the normal comparison group...
August 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Thomas A Hooven, Ellen M Hooper, Sandeep N Wontakal, Richard O Francis, Rakesh Sahni, Margaret T Lee
Neonatal cyanosis resulting from a fetal methaemoglobin variant is rare. Most such variants are only described in a few published case reports. We present the case of a newborn with unexplained persistent cyanosis, ultimately determined to have a γ-chain mutation causing Hb FM-Fort Ripley. This neonatal haemoglobinopathy can be challenging to diagnose, as significant oxygen desaturation may result from barely detectable levels of the mutant haemoglobin and co-oximetry studies may show a falsely normal methaemoglobin level...
2016: BMJ Case Reports
Ayesha Khan, Farah Deeba Nasrullah, Riffat Jaleel
OBJECTIVE: To determine frequency of Low Birth Weight (LBW) at term and to determine frequency of various associated risk factors. METHODS: This cross-sectional study was conducted in Department of Obstetrics and Gynaecology Layari General Hospital and Dow University of Health Sciences Karachi between January 2007 to July 2008. Women with singleton pregnancy of 37 and above completed weeks were identified. Those women who gave birth to babies with less than 2500gm were recruited in the study...
January 2016: Pakistan Journal of Medical Sciences Quarterly
Marieangela C Wilson, Kongtana Trakarnsanga, Kate J Heesom, Nicola Cogan, Carole Green, Ashley M Toye, Steve F Parsons, David J Anstee, Jan Frayne
Cord blood stem cells are an attractive starting source for the production of red blood cells in vitro for therapy because of additional expansion potential compared with adult peripheral blood progenitors and cord blood banks usually being more representative of national populations than blood donors. Consequently, it is important to establish how similar cord RBCs are to adult cells. In this study, we used multiplex tandem mass tag labeling combined with nano-LC-MS/MS to compare the proteome of adult and cord RBCs and reticulocytes...
June 2016: Molecular & Cellular Proteomics: MCP
Satvinder Ghotra, Krista Jangaard, Chantale Pambrun, Conrad Vincent Fernandez
Methemoglobinaemia is a rare cause of cyanosis in newborns. Congenital methemoglobinaemias due to M haemoglobin or deficiency of cytochrome b5 reductase are even rarer. We present a case of congenital methemoglobinaemia presenting at birth in a preterm infant. A baby boy born at 29 weeks and 3 days of gestation had persistent central cyanosis immediately after delivery, not attributable to a respiratory or cardiac pathology. Laboratory methemoglobin levels were not diagnostic. Cytochrome b5 reductase levels were normal and a newborn screen was unable to pick up any abnormal variants of fetal haemoglobin...
2016: BMJ Case Reports
Abiodun I Adanikin, Jacob O Awoleke, Babatunde A Olofinbiyi, Pipeloluwa O Adanikin, Omobolanle R Ogundare
BACKGROUND: Anaemia in pregnancy is associated with adverse maternal and fetal outcome. Unfortunately, in developing countries its prevalence has continued to rise. To improve the situation, iron supplement is routinely prescribed during pregnancy. We therefore examine the impact of the intervention as being currently practised in our clinical setting. METHODS: In total, 255 prenatal clinic attendees who had more than 8 weeks of prescribed iron supplements were sampled...
October 2015: Ethiopian Journal of Health Sciences
Flávia C Leonardo, Ana F Brugnerotto, Igor F Domingos, Kleber Y Fertrin, Dulcinéia M de Albuquerque, Marcos A C Bezerra, Aderson S Araújo, Sara T O Saad, Fernando F Costa, Stephan Menzel, Nicola Conran, Swee Lay Thein
The presence of high levels of fetal haemoglobin (HbF) provides well-validated clinical benefits to patients with sickle cell anaemia (SCA). Nevertheless it has been difficult to show clear direct effects of the known genetic HbF modifiers, such as the enhancer polymorphisms for haematopoietic transcription factors BCL11A and MYB, on SCA severity. Investigating SCA patients from Brazil, with a high degree of European genetic admixture, we have detected strong effects of these variants on HbF levels. Critically, we have shown, for the first time, that the presence of such HbF-promoting variants leads to a reduced rate of SCA complications, especially stroke...
May 2016: British Journal of Haematology
Heather Waterfall, Rosalie M Grivell, Jodie M Dodd
BACKGROUND: Caesarean section involves making an incision in the woman's abdomen and cutting through the uterine muscle. The baby is then delivered through that incision. Difficult caesarean birth may result in injury for the infant or complications for the mother. Methods to assist with delivery include vacuum or forceps extraction or manual delivery utilising fundal pressure. Medication that relaxes the uterus (tocolytic medication) may facilitate the birth of the baby at caesarean section...
2016: Cochrane Database of Systematic Reviews
Francisco Abecasis, Inês Marques, Celeste Bento, Anabela Ferrão
Screening for critical congenital heart defects in newborn babies can aid in early recognition, with the prospect of improved outcome. However, as this universal newborn screening is implemented, there will be an increasing number of false-positive results. In order to avoid multiple investigations and uncertainty, an haemoglobin (Hb) variant must be included in the differential diagnosis in otherwise well newborns with low oxygen saturation by pulse oximetry. We describe a novel fetal Hb variant (heterozygous γ-globin gene (HBG1) mutation in exon 2 c...
2016: BMJ Case Reports
Noirin E Russell, Mary F Higgins, Brendan F Kinsley, Michael E Foley, Fionnuala M McAuliffe
BACKGROUND: Cardiomyopathy is a common finding in offspring of pre-gestational type 1 diabetic pregnancy. Echocardiographic and biochemical evidence of fetal cardiac dysfunction have also been reported. Studies suggest that offspring of diabetic mothers (ODM) undergo a fetal programming effect due to the hyperglycaemic intrauterine milieu which increases their risk of cardiovascular morbidity in adult life. Decreased neonatal heart rate variability (HRV) has been described in association with in-utero growth restriction, prematurity, sudden infant death syndrome and congenital heart disease...
January 2016: Early Human Development
Mark Cordina, Sadia Bhatti, Marianna Fernandez, Argyro Syngelaki, Kypros H Nicolaides, Nikos A Kametas
OBJECTIVE: To examine the relationship between maternal haemoglobin concentration (Hb) at 27-29weeks' gestation and fetal growth restriction (FGR). DESIGN: This was a retrospective, case control study. SETTING: A University hospital in London, UK. POPULATION: Pregnant women attending for routine antenatal care at 27-29weeks of pregnancy. METHODS: Maternal Hb, measured routinely at 27-29weeks in pregnancies complicated by FGR (n=491) was compared to normal controls (n=491)...
October 2015: Pregnancy Hypertension
Veronica van der Land, Henri J M M Mutsaerts, Marc Engelen, Harriët Heijboer, Mark Roest, Martine J Hollestelle, Taco W Kuijpers, Paul J Nederkoorn, Marjon H Cnossen, Charles B L M Majoie, Aart J Nederveen, Karin Fijnvandraat
Sickle cell disease (SCD) is complicated by silent cerebral infarcts, visible as white matter hyperintensities (WMHs) on magnetic resonance imaging (MRI). Both local vaso-occlusion, elicited by endothelial dysfunction, and insufficiency of cerebral blood flow (CBF) have been proposed to be involved in the aetiology. We performed an explorative study to investigate the associations between WMHs and markers of endothelial dysfunction and CBF by quantifying WMH volume on 3.0 Tesla MRI. We included 40 children with HbSS or HbSβ(0) thalassaemia, with a mean age of 12...
January 2016: British Journal of Haematology
Matthew C Canver, Elenoe C Smith, Falak Sher, Luca Pinello, Neville E Sanjana, Ophir Shalem, Diane D Chen, Patrick G Schupp, Divya S Vinjamur, Sara P Garcia, Sidinh Luc, Ryo Kurita, Yukio Nakamura, Yuko Fujiwara, Takahiro Maeda, Guo-Cheng Yuan, Feng Zhang, Stuart H Orkin, Daniel E Bauer
Enhancers, critical determinants of cellular identity, are commonly recognized by correlative chromatin marks and gain-of-function potential, although only loss-of-function studies can demonstrate their requirement in the native genomic context. Previously, we identified an erythroid enhancer of human BCL11A, subject to common genetic variation associated with the fetal haemoglobin level, the mouse orthologue of which is necessary for erythroid BCL11A expression. Here we develop pooled clustered regularly interspaced palindromic repeat (CRISPR)-Cas9 guide RNA libraries to perform in situ saturating mutagenesis of the human and mouse enhancers...
November 12, 2015: Nature
Diego Velasco-Rodríguez, Juan-Manuel Alonso-Domínguez, Fernando-Ataúlfo González-Fernández, Jesús Villarrubia, María Sopeña, Lorena Abalo, Paloma Ropero, Jorge Martínez-Nieto, Félix de la Fuente Gonzalo, Fernando Cava
AIMS: To analyse the differences in reticulocyte indices between delta beta thalassaemia trait (δβ-TT), beta thalassaemia trait (β-TT) and iron deficiency anaemia (IDA), and to correlate those differences with the physiopathological features of these three types of microcytoses. METHODS: We performed a descriptive study of 428 samples (43 δβ-TT, 179 β-TT and 206 IDA) that were run on Advia 2120 analyser (Siemens). The following reticulocyte indices were assessed: absolute reticulocyte count (ARC), percentage of reticulocytes, mean corpuscular volume of reticulocytes (MCVr), haemoglobin content of reticulocytes (CHr), mean corpuscular haemoglobin concentration of reticulocytes, red blood cell distribution width of reticulocytes (RDWr), haemoglobin distribution width of reticulocytes (HDWr) and reticulocyte subpopulations based on their fluorescence according to mRNA (low (L-R), medium (M-R) and high (H-R)), MCV ratio and MCHC ratio...
February 2016: Journal of Clinical Pathology
Li Zhen, Min Pan, Jin Han, Xin Yang, Yan-Mei Ou, Can Liao, Dong-Zhi Li
OBJECTIVE: To evaluate the efficacy of the sonographic cardiothoracic ratio (CTR) in early pregnancy for the prediction of fetal haemoglobin (Hb) Bart's disease. STUDY DESIGN: Over a 1.5-year period at a Chinese tertiary obstetric centre, women at risk of Hb Bart's disease were given the option of a non-invasive approach to exclude an affected pregnancy between 11 weeks and 13 weeks and 6 days of gestation, with a routine rescan after a 2-week interval. The fetal CTR, a sonographic marker, was assessed, and invasive testing followed in cases of fetal cardiomegaly...
October 2015: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Kasemsri Srisupundit, Pimlak Charoenkwan, Kuntharee Traisrisilp, Theera Tongsong
The case presented here is an example of hereditary red blood cell membrane defect with a co-inherited haemoglobin Constant Spring. This case is of an anaemic fetus that presented with isolated ascites at 18 weeks of gestation. Fetal blood analysis revealed abnormal shaped red blood cells. The same pattern of red blood cell morphology was also seen on paternal peripheral blood smear. Intrauterine blood transfusions were given twice to correct fetal anaemia. The fetus showed a good response to the transfusions and was delivered at term with mild anaemia and did not need blood transfusion after birth...
2015: BMJ Case Reports
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