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https://www.readbyqxmd.com/read/28731851/the-frequency-of-occurrence-of-fish-shaped-red-blood-cells-in-different-haematologic-disorders
#1
Christoph Robier, Carolin Körber, Franz Quehenberger, Manfred Neubauer, Albert Wölfler
BACKGROUND: Red blood cells (RBC) resembling the silhouette of a fish are rarely observed in peripheral blood (PB) smears. In this study, we determined the frequency of occurrence of fish-shaped RBC in different haematologic diseases. METHODS: We examined PB smears of patients with iron deficiency anaemia (IDA) (n=23), β-thalassaemia minor (BTM) (n=30), sickle cell disease (SCD) (n=7), autoimmune haemolytic anaemia (AIHA) (n=13), microangiopathic haemolytic anaemia (MAHA) (n=11), hereditary sphaerocytosis (HS) (n=4), hereditary elliptocytosis (HE) (n=3), vitamin B12 and folate deficiency (n=15), anaemia in liver disease (LD) (n=17), myelodysplastic syndrome (MDS) (n=15), acute myeloid leukaemia (AML) (n=29), chronic myeloid leukaemia (CML) (n=18), primary myelofibrosis (PMF) (n=12), chronic myelo-monocytic leukaemia (CMML) (n=15) and 21 healthy controls by light microscopy for the occurrence of fish-shaped erythrocytes...
July 21, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28699687/the-super-sickling-haemoglobin-hbs-oman-a-study-of-red-cell-sickling-k-permeability-and-associations-with-disease-severity-in-patients-heterozygous-for-hba-and-hbs-oman-hba-s-oman-genotype
#2
Halima W M Al Balushi, Yasser Wali, Maha Al Awadi, Taimoora Al-Subhi, David C Rees, John N Brewin, Anke Hannemann, John S Gibson
Studying different sickle cell genotypes may throw light on the pathogenesis of sickle cell disease (SCD). Here, the clinical profile, red cell sickling and K(+) permeability in 29 SCD patients (15 patients with severe disease and 14 with a milder form) of HbA/S-Oman genotype were analysed. The super sickling nature of this Hb variant was confirmed. The red cell membrane permeability to K(+) was markedly abnormal with elevated activities of Psickle , Gardos channel and KCl cotransporter (KCC). Results were consistent with Ca(2+) entry and Mg(2+) loss via Psickle stimulating Gardos channel and KCC activities...
July 12, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28695675/the-role-of-diffusion-weighted-imaging-in-prediction-liver-iron-concentration-in-beta-thalassaemia-patients
#3
Suha Akpinar, Guliz Yilmaz, Nail Bulakbasi, Murat Kocaoglu
OBJECTIVE: The aim of this study was to analyse the value of diffusion-weighted magnetic resonance imaging (DWI) to determine the liver parenchyma iron concentration in β-thalassaemia major patients. METHODS: Abdominal magnetic resonance (MR) imaging, including gradient echo sequences and DWI sequences, was undertaken of 55 β-thalassaemia major patients. The apparent diffusion coefficient (ADC) values of liver parenchyma were measured in seven regions at the level of the portal bifurcation and compared with liver iron concentration (LIC)...
July 11, 2017: Journal of Medical Imaging and Radiation Oncology
https://www.readbyqxmd.com/read/28695249/first-study-on-iron-complexes-in-blood-and-organ-samples-from-thalassaemic-and-normal-laboratory-mice-using-m%C3%A3-ssbauer-spectroscopy
#4
George Charitou, Vlassis Petousis, Charalambos Tsertos, Yannis Parpottas, Marina Kleanthous, Marios Phylactides, Soteroula Christou
Measurements of iron complexes and iron stores in the body are crucial for evaluation and management of chelation therapy targeted against iron accumulation or overload in blood and organs. In this work, blood and tissue samples from one normal and one thalassaemic laboratory mouse were studied using (57)Fe Mössbauer spectroscopy at 78 K for the first time. In contrast to human patients, these laboratory mice did not receive any medical treatment, thus the iron components present in the samples are not altered from their natural state...
July 10, 2017: European Biophysics Journal: EBJ
https://www.readbyqxmd.com/read/28689691/variability-of-homozygous-sickle-cell-disease-the-role-of-alpha-and-beta-globin-chain-variation-and-other-factors
#5
Graham R Serjeant, Elliott Vichinsky
The single base molecular substitution characterizing sickle cell haemoglobin, β(6)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...
June 21, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28680334/expression-of-cd55-cd59-and-cd35-on-red-blood-cells-of-%C3%AE-thalassaemia-patients
#6
Ayşegül Uǧur Kurtoǧllu, Belkls Koçtekin, Erdal Kurtoǧlu, Mustafa Yildiz, Selen Bozkurt
AIM OF THE STUDY: β-thalassaemia (β-Thal) is considered a severe, progressive haemolytic anaemia, which needs regular blood transfusions for life expectancy. Complement-mediated erythrocyte destruction can cause both intravascular and extravascular haemolysis. Complement regulatory proteins protect cells from such effects of the complement system. We aimed to perform quantitative analysis of membrane-bound complement regulators, CD55 (decay accelerating factor - DAF), CD35 (complement receptor type 1 - CR1), and CD59 (membrane attack complex inhibitory factor - MACIF) on peripheral red blood cells by flow cytometry...
2017: Central-European Journal of Immunology
https://www.readbyqxmd.com/read/28680061/a-comprehensive-ethnic-based-analysis-of-alpha-thalassaemia-allelle-frequency-in-northern-thailand
#7
Mattapong Kulaphisit, Jatupol Kampuansai, Kamonlak Leecharoenkiat, Methi Wathikthinnakon, Daoroong Kangwanpong, Thongperm Munkongdee, Saovaros Svasti, Suthat Fucharoen, Duncan R Smith, Pathrapol Lithanatudom
Alpha (α)-thalassaemia is one of the most prevalent hereditary blood disorders, commonly affecting Southeast Asian people, with the highest incidence (30-40%) being seen in northern Thailand. However, this high incidence was estimated without consideration of the variations between ethnic populations and the geographical location of the populations. To address this issue, a total of 688 samples from 13 different northern Thai ethnic groups (30 villages) categorized into three linguistic groups were genotyped for deletional alpha-thalassaemia (-α(3...
July 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28674233/prevalence-and-spectrum-of-thalassaemia-in-changsha-hunan-province-china-discussion-of-an-innovative-screening-strategy
#8
Jun He, Houlin Zeng, Lin Zhu, Hanmei Li, Liangcheng Shi, Lanping Hu
Hunan province located in the south of China has a high incidence of haemoglobinopathies. In the present study, we surveyed the accurate population frequency data of the local population in Changsha city of Hunan province in China. The data includes the carrying rate, gene mutation types and their distribution features for thalassaemia. In total, 7500 consecutive samples from five geographical areas of Changsha were analysed for both haematological and molecular parameters. Therewas a high prevalence of carriers of α-thalassaemia (2...
June 2017: Journal of Genetics
https://www.readbyqxmd.com/read/28669707/a-multiplex-arms-pcr-approach-to-detection-of-common-%C3%AE-globin-gene-mutations
#9
Kanchan K Mishra, Parizad Patel, Dipal S Bhukhanvala, Avani Shah, Kanjaksha Ghosh
BACKGROUND: β-thalassaemia is a group of inherited single-gene disorders worldwide. Each ethnic population has its own common mutations. Heterogeneity of β-thalassaemia mutations in multi-ethnic population of Surat, makes molecular diagnosis expensive and time consuming. METHODS: Specific primers were used to differentiate four common mutations, IVS I-5 (G→C), Codon 41/42 (- TCTT), 619-bp deletion and FS 8/9 (+G), by a simple PCR involving a multiplex amplification refractory mutation system...
June 29, 2017: Analytical Biochemistry
https://www.readbyqxmd.com/read/28660640/randomised-clinical-trial-sofosbuvir-and-ledipasvir-in-patients-with-transfusion-dependent-thalassaemia-and-hcv-genotype-1-or-4-infection
#10
A Mangia, R Sarli, R Gamberini, A Piga, G Cenderello, V Piazzolla, R Santoro, V Caruso, A Quarta, R Ganga, M Copetti, G Forni
BACKGROUND: Patients with thalassaemia major depend on blood transfusions. In Italy, up to 80% of thalassaemia patients bear HCV antibodies due to HCV contaminated transfusions before 1990. Thalassaemia patients with HCV infection have high risk of developing HCC. Treatment based on Pegylated-IFN (Peg-IFN) and Ribavirin (RBV) was limited by relevant side effects. AIM: To evaluate the impact of Sofosbuvir/Ledipasvir (SOF/LDV) fixed dose combination for 12 weeks without RBV, in patients with thalassaemia major and HCV Genotype 1 or 4 (GT1/4)...
June 29, 2017: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28658777/detection-of-compound-heterozygous-sickle-cell-%C3%AE-thalassaemia-in-a-patient-with-extreme-weakness-mild-jaundice-and-moderate-anaemia-a-case-report
#11
Subhash Chandra, Mostafa Ali, Pooja Mishra, Ashok Kumar Kapoor, Yamini Jindal
A 16-year-old female complained of extreme weakness. She had moderate anaemia; her Haemoglobin (Hb) was 7.7 gm/dl. Peripheral blood smear showed few sickled red cells. Sickle cell test was positive. High-Performance Liquid Chromatography (HPLC) revealed elevated levels of HbS (38.4%) and HbF (15.7%). In addition, HbA2 concentration was 3.8% and HbA concentration was 42.1%. Results suggested a diagnosis of compound heterozygous sickle cell-β(+) thalassaemia. Sickle cell test was also positive with blood of patient's brother; Hb HPLC examination showed relatively low concentration of HbS (25...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28658748/diabetes-mellitus-in-thalassaemia-major-patients-a-report-from-the-southeast-of-iran
#12
Ali Bazi, Javad Sharifi-Rad, Daryoush Rostami, Omolbanin Sargazi-Aval, Amin Safa
INTRODUCTION: Diabetes Mellitus (DM) represents a major concern in Thalassaemia Major (TM) patients. AIM: The present study was conducted to evaluate the frequency of Impaired Fasting Glucose (IFG) and DM in TM patients in Southeast of Iran. MATERIALS AND METHODS: Fasting Blood Glucose (FBS) was determined using fasting blood samples in 148 TM patients. Demographical data was collected by a questionnaire. Clinical and laboratory variables including cell blood counts, pre-transfusion Haemoglobin (Hb) level, and five-year ferritin were extracted from medical records...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28656815/annals-express-newborn-screening-for-sickle-cell-disorders-using-tandem-mass-spectrometry-ms-ms-3-years-experience-of-using-a-protocol-to-detect-only-the-disease-states
#13
Stuart Moat, Derek Rees, Roanna George, Lawrence King, Alan Dodd, Adeboye Ifederu, Tejswurree Ramgoolam, Sharon Hillier
BACKGROUND: Tandem mass spectrometry (MS/MS) has recently become an alternative method for the newborn screening of sickle cell disorders (SCD), as it is able to detect haemoglobin (Hb) peptides following digestion of bloodspots with trypsin. Using the SpOtOn Diagnostics Reagent Kit, we previously developed a screening protocol to detect only the disease states of SCD, using action values based on the ratio between the variant Hb peptide to wild-type peptide abundances for the HbS, C, D(P)(u)(n)(j)(a)(b), O(A)(r)(a)(b), E and Lepore peptides...
January 1, 2017: Annals of Clinical Biochemistry
https://www.readbyqxmd.com/read/28643460/periodic-limb-movement-in-sleep-and-sickle-cell-disease-a-neglected-association
#14
Ana C Cabañas-Pedro, Suely Roizenblatt, Altay A L de Souza, Sérgio Tufik, Maria S Figueiredo
High frequency of periodic limb movements in sleep (PLMS) has been described among children with sickle cell disease (SCD), but there is little information about PLMS among adults with SCD. We aim to determine the frequency of PLMS among adults with SCD and to identify possible associations with iron status and haemolytic parameters. We analysed polysomnography on 99 adults: 74 with sickle cell anaemia (HbSS), 19 with HbSC (double heterozygosis HbS and HbC) and 6 with HbS-beta thalassaemia. Laboratory data were collected close to the time of the polysomnography examination...
June 23, 2017: British Journal of Haematology
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
#15
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...
June 23, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28620953/molecular-characterisation-of-%C3%AE-and-%C3%AE-thalassaemia-among-indigenous-senoi-orang-asli-communities-in-peninsular-malaysia
#16
Danny Xuan Rong Koh, Raja Zahratul Azma Raja Sabudin, Malisa Mohd Yusoff, Noor Hamidah Hussin, Rahimah Ahmad, Ainoon Othman, Endom Ismail
Thalassaemia is a public health problem in Malaysia, with each ethnic group having their own common mutations. However, there is a lack on data on the prevalence and common mutations among the indigenous people. This cross-sectional study was performed to determine the common mutations of α- and β-thalassaemia among the subethnic groups of Senoi, the largest Orang Asli group in Peninsular Malaysia. Blood samples collected from six Senoi subethnic groups were analysed for full blood count and haemoglobin analysis (HbAn)...
June 16, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28599577/a-retrospective-comparison-of-pregnancy-outcomes-between-women-with-alpha-thalassaemia-1-trait-and-normal-controls
#17
Kuntharee Traisrisilp, Phudit Jatavan, Theera Tongsong
The objective of this retrospective cohort study was to compare pregnancy outcomes between low-risk pregnant women with alpha-thalassaemia-1 trait and normal controls. The database of the Maternal-Foetal Medicine unit was used to identify low-risk singleton pregnant women complicated by alpha-thalassaemia-1 trait who gave birth between January 2002 and October 2014. The low-risk pregnancies with non-carrier status for thalassaemia were assigned into the control group, with a control-to-case ratio of 10:1. During the study period, 595 women with alpha-thalassaemia-1 trait and 5950 normal controls were identified...
June 9, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28548214/the-performance-of-malbac-and-mda-methods-in-the-identification-of-concurrent-mutations-and-aneuploidy-screening-to-diagnose-beta-thalassaemia-disorders-at-the-single-and-multiple-cell-levels
#18
WeiQiang Liu, HuiMin Zhang, Dan Hu, SiJia Lu, XiaoFang Sun
AIM: To select an optimal whole-genome amplification (WGA) method to improve the efficiency of the preimplantation genetic diagnosis and screening (PGD/PGS) of beta-thalassaemia disorders. METHODS: Fifty-seven fibroblast samples with defined beta-thalassaemia variations and forty-eight single-blastomere samples were amplified from single-, two-, and five-cell samples by multiple annealing and looping-based amplification cycles (MALBAC) and the multiple displacement amplification (MDA) method...
May 26, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28544032/prevalence-of-diabetes-mellitus-in-chinese-children-with-thalassaemia-major
#19
Yuzhen Liang, Rekha Bajoria, Yan Jiang, Hongwei Su, Hongfei Pan, Ning Xia, Ratna Chatterjee, Yongrong Lai
OBJECTIVE: Diabetes mellitus is a common endocrinopathy in patients with β-thalassaemia major (β-TM), which is high prevalent in southern China. This study aimed to determine the cause and prevalence of glycaemic disorders in Chinese children with β-TM. METHODS: In this prospective study, fasting glucose and insulin (FINS) levels were assessed in 267 β-TM and 80 non-TM control children. Homeostatic model assessment (HOMA) and the quantitative insulin sensitivity check index (QUICKI) were evaluated...
May 22, 2017: Tropical Medicine & International Health: TM & IH
https://www.readbyqxmd.com/read/28541483/malaria-host-candidate-genes-validated-by-association-with-current-recent-and-historic-measures-of-transmission-intensity
#20
Nuno Sepúlveda, Alphaxard Manjurano, Susana G Campino, Martha Lemnge, John Lusingu, Raimos Olomi, Kirk A Rockett, Christina Hubbart, Anna Jeffreys, Kate Rowlands, Taane G Clark, Eleanor M Riley, Chris J Drakeley
Background: Human malaria susceptibility is determined by multiple genetic factors. It is however unclear which genetic variants remain important over time. Methods: Genetic associations of 175 high quality polymorphisms within several malaria candidate genes were examined in a sample of 8,096 individuals from northeast Tanzania using altitude, seroconversion rates and parasite rates as proxies of historical, recent and current malaria transmission intensity. A principal component (PC) analysis was used to derive two alternative measures of overall malaria propensity of a location across different time scales...
May 25, 2017: Journal of Infectious Diseases
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