12,185 results match your criteria Cooley Anemia


The experience of a tertiary unit on the clinical phenotype and management of hypogonadism in female adolescents and young adults with transfusion dependent thalassemia.

Acta Biomed 2019 Jan 23;90(1):158-167. Epub 2019 Jan 23.

Pediatric and Adolescent Outpatient Clinic, Quisisana Hospital, Ferrara, Italy.

Background: Transfusion-dependent β-thalassemia (TDT) is associated with several complications necessitating a multidisciplinary approach for diagnosis, treatment and follow-up. Hypogonadism in female TDT patients is one of the most common endocrine complications, requiring hormone replacement therapy (HRT) throughout reproductive life. Little is known about the balance of benefits versus risks of treatment with sex steroids. Read More

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http://www.mattioli1885journals.com/index.php/actabiomedica/
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http://dx.doi.org/10.23750/abm.v90i1.8143DOI Listing
January 2019
1 Read

Spontaneous iliopsoas hematoma in a trasfusion dependent β-thalassemia patient with hypersplenism: a case report.

Acta Biomed 2018 Dec 4;90(1):107-111. Epub 2018 Dec 4.

Department of Medical Education Hamad Medical Corporation (HMC), Doha, Qatar.

A 27-year-old married man with transfusion dependent β-thalassemia (TDT) complaining low back pain due to a spontaneous iliopsoas hematoma is reported. A magnetic resonance imaging (MRI) confirmed the diagnosis.The patient was managed conservatively. Read More

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http://dx.doi.org/10.23750/abm.v90i1.7943DOI Listing
December 2018

Meeting Report: The Equality Project on Endocrine Complications in Thalassemia: Selected Highlights from the First Turkish Congress, Antalya, 10th-11th December 2018.

Pediatr Endocrinol Rev 2019 Mar;16(3):401-411

Mediterranean Blood Diseases Foundation (AKHAV), Board Member and Equality Project Manager, Antalya,Turkey.

Major difficulties reported by endocrinologists /pediatricians/ hematologists in the care of thalassemic patients with endocrine complications were: lack of facilities, correct interpretation of tests, unfamiliarity with medical treatment and the cost of diagnostics and therapeutics. Therefore, there is a felt need to educate and train more endocrinologists/pediatricians/hematologists in this field in order to optimise growth and prevent endocrine complications. To achieve this goal, in 2015, a project called Equality was submitted by three countries (Turkey, Spain and Italy) and approved by the European Union (EU) with the aim to train doctors and nurses, taking care of youth and young adults TM patients, in the prevention, diagnosis, and management of endocrine disorders. Read More

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http://dx.doi.org/10.17458/per.vol16.2019.csc.mr.thalassemiaDOI Listing

Assessment of thiol/disulfide balance as an oxidative stress marker in children with β-thalassemia major.

Pak J Med Sci 2019 Jan-Feb;35(1):161-165

Abdullah Solmaz, Department of Pediatrics, Faculty of Medicine, Harran University, Sanliurfa, Turkey.

Objective: We aimed to investigate the oxidative stress status in children with β-thalassemia major (β-TM) by measuring native thiol (SH), disulfide (SS) and total thiol (SH + SS) plasma levels.

Methods: This study was carried out from November 2017 to March 2018 at the Pediatric Hematology Clinic of the Harran University Medical Faculty Hospital. Blood specimens were collected from 100 participants, including 50 β-TM patients and 50 controls, and SH, SS and SH+SS levels were detected through a newly developed method. Read More

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http://dx.doi.org/10.12669/pjms.35.1.307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6408658PMC

Cardiac involvement by CMR in different genotypic groups of thalassemia major patients.

Blood Cells Mol Dis 2019 Mar 7;77:1-7. Epub 2019 Mar 7.

Fondazione G. Monasterio CNR-Regione Toscana, Pisa, Italy. Electronic address:

Beta thalassemia major (β-TM) displays a great deal of phenotypic heterogeneity, not fully investigated in terms of cause-effect. We aimed to detect if different genotypic groups could be related to different levels of cardiac impairment, evaluated by cardiovascular magnetic resonance (CMR). We considered 671 β-TM patients (age 30. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10799796183044
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http://dx.doi.org/10.1016/j.bcmd.2019.01.008DOI Listing
March 2019
1 Read

Effect of heterozygous beta thalassemia on HbA1c levels in individuals without diabetes mellitus: A cross sectional study.

Clin Chim Acta 2019 Mar 13. Epub 2019 Mar 13.

First Department of Propaedeutic Medicine, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Aims: To investigate the effect of heterozygous β-thalassemia on HbA1c levels in a population without diabetes mellitus (DM).

Methods: Using a cross-sectional design, HbA1c levels were compared between two groups of 100 consecutive carriers of β-thalassemia and 100 healthy controls matched for age, gender and BMI, taking into account fasting serum glucose and fructosamine levels. The effect of hemoglobin concentration on HbA1c was also examined. Read More

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http://dx.doi.org/10.1016/j.cca.2019.03.1611DOI Listing

Mutational Analysis Of Beta Thalassaemia By Multiplex Arms-Pcr In Khyber Pakhtunkhwa, Pakistan.

J Ayub Med Coll Abbottabad 2019 Jan-Mar;31(1):98-103

Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan.

Background: Beta thalassaemia is one of the commonest genetic conditions in the world. More than 200 different mutations have been reported in the beta globin chain genes. Notably, regional and ethnic variations in most common mutations in beta-thalassaemia have been identified. Read More

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March 2019
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Impact of β-thalassemia trait carrier state on inflammatory status in patients with newly diagnosed hypertension.

J Cardiovasc Med (Hagerstown) 2019 Mar 8. Epub 2019 Mar 8.

First Department of Cardiology, Onassis Cardiac Surgery Center, Athens, Greece.

Background: B-thalassemia carrier state or thalassemia minor confers cardiovascular protection through favorable lipidemic and blood pressure profile. However, its impact on inflammatory status-a common denominator of the above conditions-has not been addressed.

Methods: We investigated a wide range of inflammatory markers [white blood cell (WBC) count, homocysteine, C-reactive protein (CRP), serum amyloid A (SAA), fibrinogen, plasminogen, fibronectin, plasminogen activator inhibitor-1 (PAI-1), and uric acid] in a large cohort of 15 805 newly diagnosed hypertensive patients (8299 men, 7506 women); 626 of them (4. Read More

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http://dx.doi.org/10.2459/JCM.0000000000000787DOI Listing
March 2019
1 Read

Prevalence and Genetic Analysis of - and -Thalassemia and Sickle Cell Anemia in Southwest Iran.

J Epidemiol Glob Health 2018 Dec;8(3-4):189-195

Research Center of Thalassemia and Hemoglobinopathies, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

This prospective study assessed the prevalence and genetic analysis of - and -thalassemia and sickle cell anemia (SCA) in Southwest Iran. Hematological indices were measured in 17,581 couples living in Khuzestan Province, Southwest Iran. Individuals with mean corpuscular volume <80, mean corpuscular hemoglobin <27, hemoglobin A2 ≥3/5 were considered as -thalassemia traits. Read More

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http://dx.doi.org/10.2991/j.jegh.2018.04.103DOI Listing
December 2018
2 Reads

Pregnancy in Thalassemia.

Mediterr J Hematol Infect Dis 2019 1;11(1):e2019019. Epub 2019 Mar 1.

University of Cagliari, Italy.

Therapeutic advances, including the availability of oral iron chelators and new non-invasive methods for early detection and treatment of iron overload, have significantly improved the life expectancy and quality of thalassemia patients, with a consequent increase in their reproductive potential and desire to have children. Hundreds of pregnancies have been reported so far, highlighting that women carefully managed in the preconception phase usually carry out a successful gestation and labor, both in case of spontaneous conception and assisted reproductive techniques. A multidisciplinary team including a cardiologist, an endocrinologist, and a gynecologist, under the supervision of an expert in beta-thalassemia, should be involved. Read More

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http://dx.doi.org/10.4084/MJHID.2019.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6402552PMC
March 2019
1 Read

Oxidation and erythropoiesis.

Curr Opin Hematol 2019 Mar 6. Epub 2019 Mar 6.

Department of Medicine, University Hospital of Verona, Azienda Ospedaliera Universitaria Integrata (AOUI) Verona, Verona, Italy.

Purpose Of Review: Erythropoiesis is a complex multistep process going from committed erythroid progenitors to mature red cells. Although recent advances allow the characterization of some components of erythropoiesis, much still remains to be investigated particularly on stress erythropoiesis. This review summarizes recent progresses made to understand the impact of oxidative stress on normal and pathologic erythropoiesis. Read More

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http://dx.doi.org/10.1097/MOH.0000000000000495DOI Listing

Association study of rs10768683 and rs968857 polymorphisms with transfusion-dependent thalassemia (TDT) in a southern Iranian population.

Nucleosides Nucleotides Nucleic Acids 2019 Mar 8:1-12. Epub 2019 Mar 8.

d Department of Medical Genetics School of Medicine , Ahvaz Jundishapur University of Medical Sciences , Ahvaz , Iran.

Previous studies reported that detection of polymorphisms inherited through paternal model could be potential markers for the Non-Invasive Prenatal Diagnosis (NIPD) of β-thalassemia. The aim of the current study was to find out the associations of rs10768683 and rs968857 with transfusion-dependent thalassemia (TDT) in a southern Iranian population. A total of 175 subjects were investigated, divided into patients with TDT as case group (n = 75) and healthy people as control group (n = 100). Read More

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http://dx.doi.org/10.1080/15257770.2018.1498514DOI Listing
March 2019
6 Reads

First Report on the Coinheritance of α-Thalassemia and a Rare β-Thalassemia Compound Heterozygosity for the IVS-I-I(G>A)/IVS-II-705(T>G) Mutations in a Syrian Family.

Hemoglobin 2019 Mar 7:1-3. Epub 2019 Mar 7.

a Molecular Biology and Biotechnology Department, Human Genetics Division , Atomic Energy Commission of Syria , Damascus , Syria.

We describe a proband originating from Al-Quneitra Province, Syria. His hematology data was as follows: Hb A 24.7%, Hb F 71. Read More

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http://dx.doi.org/10.1080/03630269.2019.1577254DOI Listing
March 2019
1 Read

Molecular characterization of thalassemia and hemoglobinopathy in Southeastern China.

Sci Rep 2019 Mar 5;9(1):3493. Epub 2019 Mar 5.

Prenatal Diagnosis Center of Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University, Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, 350001, Fujian Province, China.

Thalassemia and hemoglobinopathy are two common inherited disorders, which are highly prevalent in southern China. However, there is little knowledge on the genotypes of thalassemia and hemoglobinopathy in Southeastern China. In this study, we present a large-scale genetic detection and molecular characterization of thalassemia and hemoglobinopathy in Fujian province, Southeastern China. Read More

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http://dx.doi.org/10.1038/s41598-019-40089-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400947PMC
March 2019
3 Reads

Malignant Peritoneal Mesothelioma Without Asbestos Exposure.

Gastroenterology Res 2019 Feb 26;12(1):48-51. Epub 2019 Feb 26.

Department of Gastroenterology, Bronxcare Health System, Bronx, NY 10457, USA.

Malignant mesothelioma is a rare neoplasm of the serosal linings. Mesothelioma has been linked to asbestos exposure, with prior asbestos exposure linked to 33-50% of malignant peritoneal mesotheliomas. We describe a case of malignant peritoneal mesothelioma (MPM) without any prior exposure to asbestos in a 40-year-old Hispanic female who presented to the emergency department with worsening abdominal pain and distension. Read More

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http://dx.doi.org/10.14740/gr1141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396791PMC
February 2019
1 Read

Neurocognitive Function and Its Related Potentials in Children with Beta Thalassemia Major: An Egyptian Study.

Open Access Maced J Med Sci 2019 Feb 16;7(3):322-328. Epub 2019 Jan 16.

National Research Centre, Child Health Department Dokki, Giza, Cairo, Egypt.

Background: Repeated blood transfusions and hemolysis in β-Thalassemia major children lead to iron overload in various organs, including the brain which may cause neurodegeneration.

Aim: To evaluate intelligence quotient in children with β-thalassemia major and healthy counterparts and to assess risk factors that cause cognitive problems.

Subjects And Methods: This case-control study was performed on 50 children aged 6-16 years old with β-thalassemia major as patients group and compared with 50 healthy children as a control group of matched age, sex, and social class. Read More

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http://dx.doi.org/10.3889/oamjms.2019.077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390139PMC
February 2019
1 Read

Bone marrow stromal cells from β-thalassemia patients have impaired hematopoietic supportive capacity.

J Clin Invest 2019 Feb 25;130. Epub 2019 Feb 25.

San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), and.

Background: The human bone marrow (BM) niche contains a population of mesenchymal stromal cells (MSCs) that provide physical support and regulate hematopoietic stem cell (HSC) homeostasis. β-Thalassemia (BT) is a hereditary disorder characterized by altered hemoglobin beta-chain synthesis amenable to allogeneic HSC transplantation and HSC gene therapy. Iron overload (IO) is a common complication in BT patients affecting several organs. Read More

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http://dx.doi.org/10.1172/JCI123191DOI Listing
February 2019
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Preparation and Gene Modification of Nonhuman Primate Hematopoietic Stem and Progenitor Cells.

J Vis Exp 2019 Feb 15(144). Epub 2019 Feb 15.

Stem Cell and Gene Therapy Program, Fred Hutchinson Cancer Research Center; Department of Medicine, University of Washington;

Hematopoietic stem and progenitor cell (HSPC) transplantation has been a cornerstone therapy for leukemia and other cancers for nearly half a century, underlies the only known cure of human immunodeficiency virus (HIV-1) infection, and shows immense promise in the treatment of genetic diseases such as beta thalassemia. Our group has developed a protocol to model HSPC gene therapy in nonhuman primates (NHPs), allowing scientists to optimize many of the same reagents and techniques that are applied in the clinic. Here, we describe methods for purifying CD34 HSPCs and long-term persisting hematopoietic stem cell (HSC) subsets from primed bone marrow (BM). Read More

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http://dx.doi.org/10.3791/58933DOI Listing
February 2019
2 Reads

The 60th American Society of Hematology Annual Meeting & Exposition.

Authors:
Walter Alexander

P T 2019 Mar;44(3):138-142

We report on two presentations on β-thalassemia and myelodysplastic syndromes, three presentations on chronic lymphocytic leukemia, and others on perioperative oral anticoagulation, sickle-cell anemia, diffuse large B-cell lymphoma, and multiple myeloma. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385735PMC
March 2019
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Elevated HbF Labelled as LA1C/cHb1 on BioRad D10 HPLC: Missed Diagnosis of Homozygous Beta Thalassemia.

Indian J Hematol Blood Transfus 2019 Jan 13;35(1):201-202. Epub 2018 Aug 13.

Department of Pathology, Christian Medical College and Hospital, Brown Road, Ludhiana, Punjab 141 008 India.

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http://dx.doi.org/10.1007/s12288-018-1004-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369080PMC
January 2019
1 Read

Hepatitis E virus prevalence in Egyptian children with transfusion-dependent thalassemia.

Braz J Infect Dis 2019 Feb 28. Epub 2019 Feb 28.

Mansoura University, Faculty of Medicine, Department of Medical Microbiology and Immunology, Mansoura, Egypt.

Hepatitis E virus (HEV) infection is one of the major public health problems in developing countries. HEV can cause chronic infections in immunocompromised individuals e.g. Read More

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http://dx.doi.org/10.1016/j.bjid.2019.01.007DOI Listing
February 2019
1 Read

BCL11A Down-Regulation Induces γ-Globin in Human β-Thalassemia Major Erythroid Cells.

Hemoglobin 2018 Jul;42(4):225-230

a Department of Hematology , The First Affiliated Hospital of Guangxi Medical University , Nanning , Guangxi Zhuang Autonomous Region , People's Republic of China.

Fetal hemoglobin (Hb F, α2γ2) is a potent genetic modifier of the severity of β-thalassemia (β-thal) and sickle cell anemia. Differences in the levels of HbF that persist into adulthood affect the severity of sickle cell disease and the β-thal syndromes. B-cell lymphoma 11 A (BCL11A) is a potent silencer of HbF. Read More

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http://dx.doi.org/10.1080/03630269.2018.1515774DOI Listing
July 2018
2 Reads

Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine.

BMC Hematol 2019 18;19. Epub 2019 Feb 18.

1Department of Medical Laboratory Sciences, Al-Quds University, East Jerusalem, Palestine.

Background: We aimed to investigate the molecular basis of β-Thalassemia intermedia (TI) in the West Bank region and its management practices.

Methods: This was a case series multi-center study and included 51 cases of TI. DNA sequencing was used to analyze β-globin gene mutations. Read More

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http://dx.doi.org/10.1186/s12878-019-0135-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380065PMC
February 2019
1 Read

Diagnostic Value of Non-Invasive Prenatal Screening of Β-Thalassemia by Cell Free Fetal DNA and Fetal NRBC.

Curr Mol Med 2019 Feb 26. Epub 2019 Feb 26.

Medical biochemistry, Tarbiat Modares University. Iran.

Background: Beta thalassemia is a common disorder with autosomal recessive inheritance. The most reliable diagnostic method is invasive techniques have the risk of miscarriage. Now the non-invasive methods will be gradually alternative for these invasive techniques. Read More

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http://dx.doi.org/10.2174/1566524019666190226124135DOI Listing
February 2019
7 Reads

Comparative Proteome-Wide Analysis of Bone Marrow Microenvironment of β-Thalassemia/Hemoglobin E.

Proteomes 2019 Feb 23;7(1). Epub 2019 Feb 23.

Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.

β-thalassemia/Hb E is a global health issue, which is characterized by a range of clinical symptoms from a mild and asymptomatic anemia to severe disorders that require transfusions from infancy. Pathological mechanisms of the disease involve the excess of unmatched alpha globin and iron overload, leading to ineffective erythropoiesis and ultimately to the premature death of erythroid precursors in bone marrow (BM) and peripheral organs. However, it is unclear as to how BM microenvironment factors contribute to the defective erythropoiesis in β-thalassemia/Hb E patients. Read More

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http://dx.doi.org/10.3390/proteomes7010008DOI Listing
February 2019
1 Read

Intraocular pressure in subjects with beta-thalassemia minor.

Arq Bras Oftalmol 2019 Feb 25. Epub 2019 Feb 25.

Department of Ophthalmology, Numune Training and Research Hospital, Adana, Turkey.

Purpose: Beta-thalassemia minor, a common hereditary blood disorder in Mediterranean countries such as Turkey, is associated with insulin resistance. Insulin resistance, in turn, can be associated with excessively high intraocular pressure and, therefore, intraocular pressure-induced blindness. This study aimed to investigate the intraocular pressure in subjects with beta-thalassemia minor. Read More

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http://dx.doi.org/10.5935/0004-2749.20190042DOI Listing
February 2019
4 Reads

Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China.

J Clin Lab Anal 2019 Feb 27:e22845. Epub 2019 Feb 27.

Center of Prenatal Diagnosis, Chenzhou No. 1 People's Hospital, Chenzhou, China.

Objectives: Thalassemia is a highly prevalent monogenic inherited disease in southern China. It is important to collect epidemiological data comprehensively for proper prevention and treatment.

Methods: In this study, blood samples collected from 15 807 residents of Chenzhou were primarily screened by hematological tests. Read More

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http://doi.wiley.com/10.1002/jcla.22845
Publisher Site
http://dx.doi.org/10.1002/jcla.22845DOI Listing
February 2019
6 Reads
1.144 Impact Factor

Validation of Microarray for the Simultaneous Detection of Common α- and β-Thalassemia Gene Mutations.

Lab Med 2019 Feb 26. Epub 2019 Feb 26.

Associated Medical Sciences Clinical Service Center, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, Thailand.

Background: Methods for detecting the complex genetic characteristics of α- and β-thalassemias are required for preventing and controlling the outbreak of new cases.

Methods: We evaluated the accuracy and practical utility of microarray for simultaneous detection of α- and β-thalassemias. A total of 102 DNA specimens, which represented 25 different genotypes, were tested in parallel using the microarray and reference methods used in the thalassemia laboratory of the Associated Medical Sciences-Clinical Services Center (AMS-CSC), Chiang Mai, Thailand. Read More

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http://dx.doi.org/10.1093/labmed/lmy087DOI Listing
February 2019

Hepcidin and the BMP-SMAD pathway: An unexpected liaison.

Vitam Horm 2019 10;110:71-99. Epub 2019 Feb 10.

Regulation of Iron Metabolism Unit, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milano, Italy.

Hepcidin, the main regulator of iron metabolism, is synthesized and released by hepatocytes in response to increased body iron concentration and inflammation. Deregulation of hepcidin expression is a common feature of genetic and acquired iron disorders: in Hereditary Hemochromatosis (HH) and iron-loading anemias low hepcidin causes iron overload, while in Iron Refractory Iron Deficiency Anemia (IRIDA) and anemia of inflammation (AI), high hepcidin levels induce iron-restricted erythropoiesis. Hepcidin expression in the liver is mainly controlled by the BMP-SMAD pathway, activated in a paracrine manner by BMP2 and BMP6 produced by liver sinusoidal endothelial cells. Read More

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http://dx.doi.org/10.1016/bs.vh.2019.01.004DOI Listing
February 2019
2 Reads

Hepcidin-ferroportin axis in health and disease.

Vitam Horm 2019 8;110:17-45. Epub 2019 Feb 8.

Tisch Cancer Institute, Division of Hematology and Medical Oncology, Icahn School of Medicine at Mount Sinai, New York, NY, United States. Electronic address:

Hepcidin is central to regulation of iron metabolism. Its effect on a cellular level involves binding ferroportin, the main iron export protein, resulting in its internalization and degradation and leading to iron sequestration within ferroportin-expressing cells. Aberrantly increased hepcidin leads to systemic iron deficiency and/or iron restricted erythropoiesis. Read More

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http://dx.doi.org/10.1016/bs.vh.2019.01.002DOI Listing
February 2019
2 Reads

Regulators of hepcidin expression.

Vitam Horm 2019 2;110:101-129. Epub 2019 Feb 2.

Institut de Recherche en Santé Digestive (IRSD), Université de Toulouse, INSERM, INRA, ENVT, UPS, Toulouse, France.

Iron, an essential nutrient, is required for many biological processes but is also toxic in excess. The lack of a mechanism to excrete excess iron makes it crucial for the body to regulate the amount of iron absorbed from the diet. This regulation is mediated by the hepatic hormone hepcidin. Read More

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http://dx.doi.org/10.1016/bs.vh.2019.01.005DOI Listing
February 2019
1 Read

Progressive Decline in Estimated GFR in Patients With Sickle Cell Disease: An Observational Cohort Study.

Am J Kidney Dis 2019 Feb 20. Epub 2019 Feb 20.

Center for Sickle Cell Disease, University of Tennessee Health Science Center, Memphis, TN. Electronic address:

Rationale & Objective: Progression of chronic kidney disease (CKD) in sickle cell disease (SCD) and its risk factors remain poorly defined. We identified characteristics associated with CKD as well as decline in estimated glomerular filtration rate (eGFR) and presence of proteinuria over time in adults with SCD.

Study Design: Retrospective observational study. Read More

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http://dx.doi.org/10.1053/j.ajkd.2018.12.027DOI Listing
February 2019

New thiazolidinones reduce iron overload in mouse models of hereditary hemochromatosis and β-thalassemia.

Haematologica 2019 Feb 21. Epub 2019 Feb 21.

1.SKLECE, RCEES, CAS, Beijing 100085, China. 2. UCAS, Beijing 100049, P.R. China;

Genetic iron overload disorders, mainly hereditary hemochromatosis and untransfused β-thalassemia, affect a large population worldwide. The primary etiology of iron overload in these diseases is insufficient production of hepcidin by the liver, leading to excessive intestinal iron absorption and iron efflux from macrophages. Hepcidin agonists would therefore be expected to ameliorate iron overload in hereditary hemochromatosis and β-thalassemia. Read More

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http://dx.doi.org/10.3324/haematol.2018.209874DOI Listing
February 2019
1 Read

Pulmonary functions in Egyptian children with transfusion-dependent β-thalassemia.

Transfus Med 2019 Feb 18;29(1):55-60. Epub 2019 Feb 18.

Pediatric Department, Faculty of Medicine, Minia University, El-Minya, Egypt.

Background: In β-thalassemia, there are varying degrees of ineffective haematopoiesis, intermittent haemolysis and iron overload. Excess iron is deposited in organs such as the heart, the liver, the endocrine glands and the lungs.

Objectives: To evaluate the pulmonary functions in asymptomatic beta thalassemic children on regular transfusion therapy and their relation to iron overload. Read More

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http://dx.doi.org/10.1111/tme.12539DOI Listing
February 2019
1 Read

Clinical variability and molecular characterization of Hbs/Gγ (Aγδβ)0-thal and Hbs/HPFH in Indian sickle cell disease patients: AIIMS experience.

Hematology 2019 Dec;24(1):349-352

a Department of Hematology , All India Institute of Medical Sciences , New Delhi , India.

Introduction: In sickle cell disease (SCD) patients, among the predictors of survival, HbF levels play a significant role in lowering the morbidity and mortality. Coinheritance of δβ thalassemia and hereditary persistence of fetal hemoglobin (HPFH) may contribute to variable HbF levels in SCD patients, thus influencing their clinicopathological profile. Such cases are sparsely documented in the literature and thus, we screened the presence of δβ thalassemia and HPFH in 126 cases of SCD with high HbF. Read More

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https://www.tandfonline.com/doi/full/10.1080/16078454.2019.1
Publisher Site
http://dx.doi.org/10.1080/16078454.2019.1579985DOI Listing
December 2019
4 Reads
1.189 Impact Factor

Hb Knossos (HBB: c.82G > T), β-globin CD 5 (-CT) (HBB: c.17_18delCT) and δ-globin CD 59 (-a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia.

BMC Pediatr 2019 Feb 18;19(1):61. Epub 2019 Feb 18.

Molecular Biology and Biotechnology Department, Human Genetics Division, Atomic Energy Commission of Syria, P.O. Box 6091, Damascus, Syria.

Background: Beta thalassemia (β-thal) is an inherited hemoglobin disorder characterized by reduced synthesis of the hemoglobin that results in microcytic hypochromic anemia. β-Thalassemia intermedia (TI) is a clinical term of intermediate gravity between the carrier state and β-thalassemia major (β -TM).

Case Presentation: We describe a 12-year-old male proband originating from Al-Quneitra province - southwest Syria. Read More

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http://dx.doi.org/10.1186/s12887-019-1435-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378710PMC
February 2019
1 Read

Occult hepatitis C virus infection in patients with beta-thalassemia major: Is it a neglected and unexplained phenomenon?

J Cell Biochem 2019 Feb 18. Epub 2019 Feb 18.

Department of Mycobacteriology and Pulmonary Research, Pasteur Institute of Iran, Tehran, Iran.

Occult hepatitis C virus (HCV) infection (OCI) is described as the presence of viral genome in both hepatocytes and peripheral blood mononuclear cells (PBMCs) despite constant negative results on serum HCV RNA tests. Beta-thalassemia major (BTM) describes a group of inherited blood diseases. Patients with BTM require repeated blood transfusions, increasing the risk of exposure to infectious agents. Read More

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http://dx.doi.org/10.1002/jcb.28472DOI Listing
February 2019
1 Read
3.263 Impact Factor

The rs61742690 (S783N) single nucleotide polymorphism is a suitable target for disrupting BCL11A-mediated foetal-to-adult globin switching.

PLoS One 2019 15;14(2):e0212492. Epub 2019 Feb 15.

Department of Genetic Research, Institute for Research and Medical Consultation (IRMC), Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.

Background: B-cell lymphoma/leukaemia 11A (BCL11A) is a C2H2-type zinc-finger transcription factor protein that is a critical modulator of haemoglobin switching and suppresses the production of foetal haemoglobin. Variation in the BCL11A gene ameliorates the severity of sickle cell disease (SCD) and β-thalassemia (β-thal). The BCL11A gene is located on chromosome 2p16. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0212492PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377191PMC
February 2019
9 Reads
3.234 Impact Factor

Reflection of treatment proficiency of hydroxyurea treated β-thalassemia serum samples through nuclear magnetic resonance based metabonomics.

Sci Rep 2019 Feb 14;9(1):2041. Epub 2019 Feb 14.

H.E.J. Research Institute of Chemistry, International Center for Chemical and Biological Sciences, University of Karachi, Karachi, 75270, Pakistan.

β-Thalassemia is a widespread autosomal recessive blood disorder found in most parts of the world. Fetal hemoglobin (HbF), a form of hemoglobin is found in infants, replaced by adult hemoglobin (HbA) after birth. Hydroxyurea (HU) is one of the most effective HbF inducer used for the treatment of anemic diseases. Read More

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http://dx.doi.org/10.1038/s41598-019-38823-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376050PMC
February 2019

Defective cytokine production from monocytes/macrophages of E-beta thalassemia patients in response to Pythium insidiosum infection.

Immunobiology 2019 Feb 8. Epub 2019 Feb 8.

Department of Immunology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. Electronic address:

Background: Pythium insidiosum has been mainly reported to cause morbidity and mortality in thalassemia patients. P. insidiosum zoospores can germinate to be hyphae within a few hours; therefore, it is difficult to study the initial immune response that P. Read More

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http://dx.doi.org/10.1016/j.imbio.2019.02.002DOI Listing
February 2019
1 Read

Krüppel-Like Factor 1 Gene Mutations in Thalassemia Patients from North Iran: Report of a New Mutation Associated with β-Thalassemia Intermedia.

Hemoglobin 2019 Feb 12:1-6. Epub 2019 Feb 12.

c Department of Genetics, Faculty of Medicine , Babol University of Medical Sciences , Babol , Iran.

Thalassemia is a hereditary disease with an autosomal recessive inheritance pattern resulting in reduced production of globin chains. Mutations in modifier genes can cause or affect thalassemia. Krüppel-like factor 1 (KLF1) is a modifier gene that was investigated in this study. Read More

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http://dx.doi.org/10.1080/03630269.2019.1567528DOI Listing
February 2019
3 Reads

Imbalance of erythropoiesis and iron metabolism in patients with thalassemia.

Int J Med Sci 2019 1;16(2):302-310. Epub 2019 Jan 1.

Department of Hematology, the First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.

This study aimed to evaluate the imbalance of erythropoiesis and iron metabolism in patients with thalassemia. 192 patients with non-transfusion-dependent thalassemia (NTDT), 94 patients with transfusion-dependent thalassemia (TDT) and 101 healthy controls were recruited between June 2013 and December 2016 in the Hematology Department, the First Affiliated Hospital of Guangxi Medical University. The groups were compared in terms of levels of erythropoiesis biomarkers [growth differentiation factor 15 (GDF15), erythropoietin (EPO) and soluble transferrin receptor (sTfR)] and of iron overload biomarkers [serum ferritin (SF), liver iron concentration (LIC) and cardiac T2*] and hepcidin. Read More

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http://dx.doi.org/10.7150/ijms.27829DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367537PMC
January 2019
1 Read

N-terminal-pro-b-type natriuretic peptide levels and cardiac hemosiderosis in adolescent β-thalassemia major patients.

Ann Pediatr Cardiol 2019 Jan-Apr;12(1):32-37

Department of Child Health, Faculty of Medicine, University of Indonesia, Cipto Mangunkusumo Hospital, Jakarta, Indonesia.

Background: Iron-induced cardiomyopathy remains the leading cause of mortality in patients with β-thalassemia major. Iron overload cardiomyopathy, which may be reversible through iron chelation, is characterized by early diastolic dysfunction. Amino-terminal pro-brain natriuretic peptide (NT-proBNP) is a sensitive biomarker of diastolic dysfunction. Read More

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http://dx.doi.org/10.4103/apc.APC_49_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343373PMC
February 2019
1 Read

Quality Matters - Hematopoietic Stem Cell Transplantation versus Transfusion and Chelation in Thalassemia Major.

Indian Pediatr 2018 Dec;55(12):1056-1058

Pediatric Hematology and Blood and Marrow Transplantation, Apollo Speciality Cancer Hospital, Chennai, India.

Objective: To compare quality of life of children with thalassemia major who have undergone stem cell transplantation with those on regular transfusion.

Methods: The study included 40 children who underwent transplantation and 40 children and 20 adults on regular transfusion and iron chelation therapy. The quality of life assessment was done using the Pediatric Quality of Life Inventory 4. Read More

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December 2018
4 Reads

[Prevalence and Genetic Analysis of β-Thalassemia in Neonates in Wuhan Area of China].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2019 Feb;27(1):170-174

Wuhan Children's Hospital(Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan 430016, Hubei Province, China.E-mail:

Objective: To investigate the β-thalassemia genotypes in neonates in Wuhan area of China and their characteristics of molecular epidemiology.

Methods: A total of 2721 neonates in Wuhan who were positive in primary screening for β-thalassemia were included in this study. Genotypes of β-thalassemia gene were determined with PCR-flow cytometry and fluorescence hybridization assay. Read More

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http://dx.doi.org/10.7534/j.issn.1009-2137.2019.01.027DOI Listing
February 2019
10 Reads

Cardiac complications and iron overload in beta thalassemia major patients-a systematic review and meta-analysis.

Ann Hematol 2019 Feb 7. Epub 2019 Feb 7.

Cardiovascular Diseases Research Center & Dep. of Molecular Medicine, Faculty of Medicine, Birjand University of Medical Sciences, Birjand, Iran.

Despite the major improvement in therapeutic management of thalassemia major, iron overload is considered a challenging conundrum in these patients and heart disease still remains a major cause of morbidity and mortality in these patients. Therefore, this study aimed to investigate the prevalence of cardiac iron overload and cardiovascular complications in transfusion-dependent thalassemia patients in the worldwide. The following databases were searched: ISI/Web of Science, Embase, PubMed, Scopus, up to February 30, 2018. Read More

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http://dx.doi.org/10.1007/s00277-019-03618-wDOI Listing
February 2019
1 Read

Hyperuricemia, urine uric excretion, and associated complications in thalassemia patients.

Ann Hematol 2019 Feb 5. Epub 2019 Feb 5.

Division of Rheumatology, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.

Thalassemia patients have a high cell turnover rate due to chronic hemolysis and ineffective erythropoiesis; therefore, hyperuricemia is anticipated. This study aimed to identify the prevalence of hyperuricemia, gout and nephrolithiasis, conditions associated with serum uric acid (SUA), and urine uric acid excretion (UUA) in thalassemia patients. This was a cross-sectional study in patients aged 15 years or older at Chiang Mai University Hospital. Read More

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http://dx.doi.org/10.1007/s00277-019-03630-0DOI Listing
February 2019
3 Reads
2.634 Impact Factor