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Thalassaemia

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https://www.readbyqxmd.com/read/28809446/deferasirox-for-managing-iron-overload-in-people-with-thalassaemia
#1
REVIEW
Claudia Bollig, Lisa K Schell, Gerta Rücker, Roman Allert, Edith Motschall, Charlotte M Niemeyer, Dirk Bassler, Joerg J Meerpohl
BACKGROUND: Thalassaemia is a hereditary anaemia due to ineffective erythropoiesis. In particular, people with thalassaemia major develop secondary iron overload resulting from regular red blood cell transfusions. Iron chelation therapy is needed to prevent long-term complications.Both deferoxamine and deferiprone are effective; however, a review of the effectiveness and safety of the newer oral chelator deferasirox in people with thalassaemia is needed. OBJECTIVES: To assess the effectiveness and safety of oral deferasirox in people with thalassaemia and iron overload...
August 15, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28805329/editorial-good-news-to-patients-with-thalassaemia-hcv-clearance-made-easy-with-direct-acting-antivirals
#2
EDITORIAL
R D'Ambrosio, P Lampertico
No abstract text is available yet for this article.
September 2017: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28805326/editorial-good-news-to-patients-with-thalassaemia-hcv-clearance-made-easy-with-direct-acting-antivirals-authors-reply
#3
EDITORIAL
A Mangia, V Piazzolla, R Santoro
No abstract text is available yet for this article.
September 2017: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28801322/portal-vein-aneurysm-in-thalassaemia
#4
Simi Das, Mousam Dey, Vinay Kumar, Hira Lal
Arterial aneurysms are more common than visceral venous aneurysms. Portal vein aneurysms being the most common type of visceral venous aneurysms. Here, we present an 18-year-old young woman with thalassaemia major, who presented with headache, palpitation, shortness of breath and a recent increase in blood transfusion rate. On clinical examination, she had hepatosplenomegaly. Ultrasonography revealed hepatosplenomegaly with fusiform dilatation of extrahepatic portal vein, which was confirmed to be portal vein aneurysm on contrast enhanced CT...
August 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28794124/phenotypic-evaluations-of-hbb-c-93-23t-c-a-nucleotide-substitution-in-the-ivs-i-nt-108-of-%C3%AE-globin-gene
#5
Margherita Vinciguerra, Filippo Cassarà, Monica Cannata, Disma Renda, Giuseppina Calvaruso, Filippo Leto, Cristina Passarello, Aurelio Maggio, Antonino Giambona
BACKGROUND: Thalassaemia and variant haemoglobin are the most common severe monogenic disorders worldwide. AIMS: To develop prenatal diagnosis programmes for the prevention of the most important haemoglobin disorders and identify healthy carriers of thalassaemia. METHODS: Sequencing analysis was used to obtain complete data on gene structure and to correlate specific phenotypic expression with mutations, especially for new or very rare mutations in globin genes...
August 9, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28774421/thalassaemia
#6
REVIEW
Ali T Taher, David J Weatherall, Maria Domenica Cappellini
Inherited haemoglobin disorders, including thalassaemia and sickle-cell disease, are the most common monogenic diseases worldwide. Several clinical forms of α-thalassaemia and β-thalassaemia, including the co-inheritance of β-thalassaemia with haemoglobin E resulting in haemoglobin E/β-thalassaemia, have been described. The disease hallmarks include imbalance in the α/β-globin chain ratio, ineffective erythropoiesis, chronic haemolytic anaemia, compensatory haemopoietic expansion, hypercoagulability, and increased intestinal iron absorption...
July 31, 2017: Lancet
https://www.readbyqxmd.com/read/28770881/molecular-genetics-and-prenatal-diagnosis-of-beta-thalassemia-to-control-transfusion-dependent-births-in-carrier-pakistani-couples
#7
Sumaira Kanwal, Sehrish Bukhari, Shazia Perveen
OBJECTIVE: To examine molecular genetics and prenatal diagnosis of beta-thalassaemia. METHODS: The study was conducted at the COMSATS Institute of Information Technology, Sahiwal, Pakistan, from October 2012 to October 2013, and comprised families having children affected by thalassaemia and autosomal recessive b-thalassemia. Blood samples of thalassaemic children and their parents were collected from different areas of Pakistan. They were screened for reported mutations through amplification refractory mutation system-polymerase chain reaction...
July 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28770456/detection-of-myocardial-iron-overload-by-two-dimensional-speckle-tracking-in-patients-with-beta-thalassaemia-major-a-combined-echocardiographic-and-t2-segmental-cmr-study
#8
Fausto Pizzino, Antonella Meloni, Anna Terrizzi, Tommaso Casini, Anna Spasiano, Carlo Cosmi, Massimo Allò, Concetta Zito, Scipione Carerj, Giovanni Donato Aquaro, Gianluca Di Bella, Alessia Pepe
We aimed to evaluate the role of two-dimensional speckle tracking imaging (2DSTI) in detecting early changes of myocardial deformation in patients affected by thalassemia major (TM) and its relation with myocardial iron overload (MIO) detected by T2* cardiovascular magnetic resonance (CMR). We studied 28 TM patients (15 males, 37.4 ± 10 years). All patients underwent CMR and echocardiography in the same day. Segmental and global T2* values were measured. Values of global longitudinal strain (GLS) were derived from the three apical views, while radial and circumferential strain were obtained as average strain from the short axis views at basal, mid and apical level...
August 2, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/28764172/clinico-haematological-profile-of-hereditary-haemolytic-anaemias-in-a-tertiary-health-care-hospital-in-south-india
#9
Chaitra Venkataswamy, Am Shanthala Devi
INTRODUCTION: Hereditary haemolytic anaemia is a common inherited disorder causing varying degree of morbidity and mortality. This includes disorders due to haemoglobin defect, membrane defect, and enzyme defect. Among them haemoglobinopathies, a single gene disorder, constitutes the major part of the disorder and is distributed worldwide with an incidence of 5%. These inherited disorders pose a major public health problem and increase the burden both on the patient and the society. Presently, these disorders are not curable but can only be prevented...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28749037/transfusion-for-sickle-cell-disease-in-pregnancy-a-single-centre-survey
#10
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/28748763/induced-pluripotent-stem-cell-technology-a-paradigm-shift-in-medical-science-for-drug-screening-and-disease-modeling
#11
Meera Nair, Sardul Singh Sandhu, Anil Kumar Sharma
BACKGROUND: Induced Pluripotent Stem Cell (IPSC) Technology is the most advanced research as it offers an attractive alternative for establishing patient-specific IPSCs to recapitulate phenotypes of not only monogenic diseases (viz. Thalassaemia, Sickle cell anemia, Haemophilia, Tay-Sachs disease), but also late-onset polygenic diseases (viz. Parkinson's disease, Alzheimer's disease, schizophrenia). Over the hindsight, numerous studies of the past and current scientists have led to the production, maturation and understanding of induced pluripotent stem cell technology and its use in basic and clinical research...
July 27, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28731851/the-frequency-of-occurrence-of-fish-shaped-red-blood-cells-in-different-haematologic-disorders
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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