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https://www.readbyqxmd.com/read/29769501/thyroid-status-in-children-with-transfusion-dependent-hb-e-%C3%AE-thalassaemia
#1
T Sharmin, A H Mollah, A A Morshed, M K Chowdhury
Despite improved haematological care, multi-endocrine dysfunction is a common complication in thalassemia. Iron overload is thought to be the most likely mechanism in thyroid dysfunction in these patients. Moreover, chronic tissue hypoxia might havedirect toxic effect on thyroid gland resulting in hypothyroidism. This study was designed to evaluate the thyroid status of children with Hb-E β-thalassemia. This cross sectional analytic study was conducted among thepatients with Hb-E β-thalassemia attending both in-patient & out-patient department of Paediatrics, Dhaka Medical College & Hospital, Dhaka, Bangladesh from April 2012 to March 2013...
April 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29769185/unusual-case-of-iron-overload-with-cancer-mimicking-abdominal-splenosis
#2
Giacomo Marchi, Giacomo Avesani, Alberto Zamò, Domenico Girelli
A 48-year-old man, former alcohol abuser and drug addicted, was referred to our tertiary referral centre for iron disorders because of marked hyperferritinaemia. His clinical history revealed chronic hepatitis C, ß-thalassaemia trait and post-traumatic splenectomy at age of 22. MRI-estimated liver iron content was markedly elevated, while first-line genetic test for haemochromatosis was negative. Alpha-fetoprotein was increased but liver ultrasonography did not reveal focal liver lesions. Multiphasic contrast-enhanced CT confirmed this result but showed two abdominal masses (diameter of 9 cm and 7 cm, respectively) among bowel loops, strongly suspicious for cancer...
May 16, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29749368/effect-of-inherited-red-cell-defects-on-growth-of-plasmodium-falciparum-an-in-vitro-study
#3
Vrushali Pathak, Roshan Colah, Kanjaksha Ghosh
Background & objectives: High prevalence of certain polymorphic alleles of erythrocytes in malaria endemic area has been linked to the resistance provided by these alleles against parasitic infestations. Numerous studies undertaken to demonstrate this correlation have generated conflicting results. This study was undertaken to investigate the abilities of various polymorphic erythrocytes to support in vitro growth of Plasmodium falciparum parasites. Methods: In this study under in vitro condition the ability of P...
January 2018: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/29737522/interventions-for-improving-adherence-to-iron-chelation-therapy-in-people-with-sickle-cell-disease-or-thalassaemia
#4
REVIEW
Patricia M Fortin, Sheila A Fisher, Karen V Madgwick, Marialena Trivella, Sally Hopewell, Carolyn Doree, Lise J Estcourt
BACKGROUND: Regularly transfused people with sickle cell disease (SCD) and people with thalassaemia (who are transfusion-dependent or non-transfusion-dependent) are at risk of iron overload. Iron overload can lead to iron toxicity in vulnerable organs such as the heart, liver and endocrine glands; which can be prevented and treated with iron chelating agents. The intensive demands and uncomfortable side effects of therapy can have a negative impact on daily activities and well-being, which may affect adherence...
May 8, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29730644/gene-therapy-for-beta-thalassaemia
#5
(no author information available yet)
No abstract text is available yet for this article.
May 5, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29723861/better-renal-resistive-index-profile-in-subjects-with-beta-thalassemia-minor-br-br-br
#6
Fahrettin Basut, Şakir Özgür Keşkek, Bozkurt Gülek
OBJECTIVE: Beta thalassaemia minor is a common genetic disorder without any characteristic symptoms except mild anemia. It is found to be associated with some cardiovascular risk factors such as insulin resistance and diabetes mellitus. The renal resistive index (RRI) is a measure of renal arterial resistance to blood flow. The aim of this study was to evaluate the renal resistive index in subjects with beta thalassaemia minor (BTM). SUBJECTS AND METHODS: A total of 253 subjects were included in this cross-sectional study...
May 3, 2018: Medical Principles and Practice: International Journal of the Kuwait University, Health Science Centre
https://www.readbyqxmd.com/read/29700043/enhancement-of-red-blood-cell-transfusion-compatibility-using-crispr-mediated-erythroblast-gene-editing
#7
Joseph Hawksworth, Timothy J Satchwell, Marjolein Meinders, Deborah E Daniels, Fiona Regan, Nicole M Thornton, Marieangela C Wilson, Johannes Gg Dobbe, Geert J Streekstra, Kongtana Trakarnsanga, Kate J Heesom, David J Anstee, Jan Frayne, Ashley M Toye
Regular blood transfusion is the cornerstone of care for patients with red blood cell (RBC) disorders such as thalassaemia or sickle-cell disease. With repeated transfusion, alloimmunisation often occurs due to incompatibility at the level of minor blood group antigens. We use CRISPR-mediated genome editing of an immortalised human erythroblast cell line (BEL-A) to generate multiple enucleation competent cell lines deficient in individual blood groups. Edits are combined to generate a single cell line deficient in multiple antigens responsible for the most common transfusion incompatibilities: ABO (Bombay phenotype), Rh (Rhnull ), Kell ( K 0 ), Duffy (Duffynull ), GPB (S- s- U- )...
April 26, 2018: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/29696941/successful-pregnancy-in-a-woman-previously-suffering-from-%C3%AE-thalassaemia-following-transplantation-of-ovarian-tissue-cryopreserved-before-puberty
#8
Sara J Matthews, Helen M Picton, Erik Ernst, Claus Y Andersen
Ovarian tissue removed from a nine year old girl suffering from thalassemia was kept deep- frozen for 14 years before being transplanted back to the now adult woman. Subsequently, she conceived following IVF treatment and delivered a healthy baby where the oocyte derived from the transplanted tissue. This is the first woman worldwide to have a baby where the ovarian tissue was frozen pre-pubertally and expand the therapeutic options for rare genetic diseases like thalassemia and girls who suffer from childhood cancer...
April 24, 2018: Minerva Ginecologica
https://www.readbyqxmd.com/read/29690995/two-complement-receptor-one-alleles-have-opposing-associations-with-cerebral-malaria-and-interact-with-%C3%AE-thalassaemia
#9
D Herbert Opi, Olivia Swann, Alexander Macharia, Sophie Uyoga, Gavin Band, Carolyne M Ndila, Ewen Harrison, Mahamadou A Thera, Abdoulaye K Kone, Dapa A Diallo, Ogobara K Doumbo, Kirsten E Lyke, Christopher Plowe, Joann M Moulds, Mohammed Shebbe, Neema Mturi, Norbert Peshu, Kathryn Maitland, Ahmed Raza, Dominic P Kwiatkowski, Kirk A Rockett, Thomas Williams, J Alexandra Rowe
Malaria has been a major driving force in the evolution of the human genome. In sub-Saharan African populations, two neighbouring polymorphisms in the Complement Receptor One ( CR1 ) gene, named Sl2 and McCb , occur at high frequencies, consistent with selection by malaria. Previous studies have been inconclusive. Using a large case-control study of severe malaria in Kenyan children and statistical models adjusted for confounders, we estimate the relationship between Sl2 and McCb and malaria phenotypes, and find they have opposing associations...
April 25, 2018: ELife
https://www.readbyqxmd.com/read/29673692/cost-effectiveness-of-hematopoietic-stem-cell-transplantation-compared-to-transfusion-chelation-for-treatment-of-thalassemia-major
#10
M Joseph John, Gaurav Jyani, Aikaj Jindal, Ranjeet Singh Mashon, Amrith Mathew, Shruti Kakkar, Pankaj Bahuguna, Shankar Prinja
Hematopoietic Stem Cell Transplant (HSCT) is the only cure for thalassaemia major (TM) which inflicts a significant one-time cost. Hence, it is important to explore the cost-effectiveness of HSCT versus lifelong regular transfusion chelation (TC) therapy. This study was undertaken to estimate incremental cost per quality adjusted life year (QALY) gained with the intervention group HSCT, and the comparator group TC, in TM patients. A combination of decision tree and Markov model was used for analysis. Hospital database, supplemented with review of published literature were used to derive input parameters for the model...
April 16, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29666677/should-premarital-screening-for-blood-disorders-be-an-obligatory-measure-in-oman
#11
Amal A Al-Balushi, Budoor Al-Hinai
Due to the high rate of consanguineous marriages in Oman, there is a correspondingly high prevalence of hereditary blood disorders, particularly sickle cell disease and β-thalassaemia. This article proposes the possibility of implementing mandatory premarital carrier screening for blood disorders in Oman, while giving due consideration to potential social and cultural obstacles. Although the implementation of such legislation would require collaboration between different sectors and may negatively affect the autonomy of certain individuals, mandatory premarital screening would help to alleviate the burden of hereditary blood disorders on the national healthcare system, as well as reduce avoidable suffering among carriers and their families...
February 2018: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/29666675/transfusion-in-haemoglobinopathies-review-and-recommendations-for-local-blood-banks-and-transfusion-services-in-oman
#12
REVIEW
Arwa Z Al-Riyami, Shahina Daar
Sickle cell disease and homozygous β-thalassaemia are common haemoglobinopathies in Oman, with many implications for local healthcare services. The transfusions of such patients take place in many hospitals throughout the country. Indications for blood transfusions require local recommendations and guidelines to ensure standardised levels of care. This article summarises existing transfusion guidelines for this group of patients and provides recommendations for blood banks and transfusion services in Oman...
February 2018: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/29664026/prenatal-screening-for-genetic-disorders-suggested-guidelines-for-the-indian-scenario
#13
REVIEW
Shubha R Phadke, Ratna D Puri, Prajnya Ranganath
Prenatal testing is the best strategy for reducing the burden of genetic disorders and congenital disabilities that cause significant postnatal functional impairment. Universal prenatal screening is advisable for common genetic disorders and congenital anomalies such as Down syndrome, beta-thalassaemia and neural tube defects. Several prenatal-screening tests are now available for Down syndrome, but knowledge about the appropriate timing of the test and the need for pre- and post-test counselling may not be updated among the primary care physicians...
December 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/29622873/clinico-hematological-profile-of-hb-q-india-an-uncommon-hemoglobin-variant
#14
Aradhana Harrison, Ranjeet Singh Mashon, Naveen Kakkar, Sheila Das
Inherited hemoglobin disorders include thalassemias and structural variants like HbS, HbE, and HbD, Hb Lepore, HbD-Iran, Hb-H disease and HbQ India. HbQ India is an uncommon alpha-chain structural hemoglobin variant seen in North and West India. Patients are mostly asymptomatic and often present in the heterozygous state or co-inherited with beta-thalassaemia. This study was done in a tertiary care teaching hospital in North India over a period of 7 years among patients referred from antenatal and other clinics for screening of hemoglobin disorders...
April 2018: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/29605545/a-comparison-of-intrauterine-haemopoietic-cell-transplantation-and-lentiviral-gene-transfer-for-the-correction-of-severe-%C3%AE-thalassaemia-in-a-hbbth3-murine-model
#15
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 haemoglobinopathies place tremendous strain on global resources. Intrauterine haemopoietic cell (IUHCT) and gene (IUGT) therapies can potentially reduce perinatal morbidities with greater efficacy than postnatal therapy alone. We performed both procedures in the thalassaemic HbbTh3/+ murine model. Intraperitoneal delivery of coisogenic cells at E13-14 produced dose-dependent chimerism. High-dose adult bone marrow (BM) cells maintained 0.2-3.1% chimerism over ~24 weeks and treated heterozygotes demonstrated higher chimerism than wild-type pups (1...
March 29, 2018: Experimental Hematology
https://www.readbyqxmd.com/read/29584909/spinal-stenosis-secondary-to-extramedullary-hematopoeisis-in-beta-thalassaemia
#16
Li Liang Joshua Lim, Ling Ling Chan
No abstract text is available yet for this article.
March 23, 2018: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/29565194/survey-on-knowledge-attitude-acceptance-and-related-factors-among-pregnant-women-in-thailand-regarding-antenatal-thalassaemia-screening
#17
Tharangrut Hanprasertpong, Kasem Raungrongmorakot, Alan Geater, Pawin Puapornpong, Wipada Laosooksathit, Aurasa Hemachandra, Maysita Suksamarnwong
Thalassaemia is a common haematologic health condition in Southeast Asian countries (SEA) including Thailand. Reducing the birth of new thalassaemia cases is an effective method to control disease. The background level of knowledge and attitude of pregnant women on the disease influences their decision to perform antenatal screening. Unfortunately, the information about pregnant women's knowledge and attitude on antenatal thalassaemia screening in a developing country such as Thailand is lacking. We therefore conducted this cross-sectional study to examine patients' knowledge and to evaluate the factors which influence the patient's knowledge and attitude on antenatal thalassaemia screening...
March 22, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29553439/red-blood-cell-alloantibodies-in-multiply-transfused-patients-in-the-occupied-palestinian-territory-a-pilot-study
#18
Ahmad Yaseen, Sa'd Suleiman, Omar Abu Zenah, Adham Abu Taha
BACKGROUND: Red blood-cell transfusion has greatly reduced the mortality and morbidity in multiply transfused patients with thalassaemia and sickle cell disease. However, this can result in red blood-cell isoimmunisation with autoantibodies and alloantibodies, which can lead to serious complications such as delayed haemolytic transfusion reaction. The aim of this study was to assess the frequency and types of alloantibodies in multiply transfused patients living in the north of the West Bank...
February 21, 2018: Lancet
https://www.readbyqxmd.com/read/29537064/preconception-risk-assessment-for-thalassaemia-sickle-cell-disease-cystic-fibrosis-and-tay-sachs-disease
#19
REVIEW
Norita Hussein, Stephen F Weng, Joe Kai, Jos Kleijnen, Nadeem Qureshi
BACKGROUND: Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in specific patient populations. Identifying and counselling couples at genetic risk of the conditions before pregnancy enables them to make fully informed reproductive decisions, with some of these choices not being available if genetic counselling is only offered in an antenatal setting...
March 14, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29533092/inherited-blood-disorders-genetic-risk-and-global-public-health-framing-birth-defects-as-preventable-in-india
#20
Sangeeta Chattoo
This paper engages critically with the global assemblage framing sickle cell and thalassaemia disorders as a 'global health crisis'; and the promise of genomics, largely DNA-based carrier/pre-conceptual screening, prenatal diagnosis with a view to terminations, deployed in framing a solution to these historically racialised spectrum of diseases as essentially preventable. Sickle cell and thalassaemia are recessively inherited, potentially life-threatening haemoglobin disorders with significant variation of severity, often needing life-long treatment...
April 2018: Anthropology & Medicine
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