12,905 results match your criteria Cooley Anemia


Hepatocellular carcinoma in adult thalassemia patients: an expert opinion based on current evidence.

BMC Gastroenterol 2020 Aug 3;20(1):251. Epub 2020 Aug 3.

Diagnostic and interventional ultrasound unit, Medical Sciences Department, "Belcolle Hospital", Viterbo, Italy.

Beta-thalassemia represents a heterogeneous group of haemoglobin inherited disorders, among the most common genetic diseases in the world, frequent in the Mediterranean basin. As beta-thalassemia patients' survival has increased over time, previously unknown complications are observed with increasing frequency. Among them, an increased risk of hepatocellular carcinoma (HCC) has been registered. Read More

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http://dx.doi.org/10.1186/s12876-020-01391-zDOI Listing

Effect of HBB genotype on survival in a cohort of transfusion-dependent thalassemia patients in Cyprus.

Haematologica 2020 Jul 30. Epub 2020 Jul 30.

Centre for Genomics and Child Health, Blizard Institute, Queen Mary University of London, UK.

Initiation of regular transfusion in transfusion-dependent thalassemia (TDT) is based on the assessment of clinical phenotype. Pathogenic HBB variants causing β-thalassemia are important determinants of phenotype and could be used to aid decision making. We investigated the association of HBB genotype with survival in a cohort study in the four thalassemia centres in Cyprus. Read More

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http://dx.doi.org/10.3324/haematol.2020.260224DOI Listing

Analysis of Hb levels and degree of anemia in relation to genotype in 615 patients with hemoglobin H disease.

Expert Rev Hematol 2020 Jul 30. Epub 2020 Jul 30.

Department of Medical Genetics, Liuzhou Maternity and Child Healthcare Hospital , Liuzhou, Guangxi Zhuang Autonomous Region, People's Republic of China.

Objectives: We analyzed hemoglobin (Hb) levels and degree of anemia in relation to genotype in patients with hemoglobin H (Hb H) disease, thereby providing a scientific basis for the prevention and treatment of Hb H disease in the Guangxi region of China.

Methods: Hb analysis was conducted in 615 patients using high performance liquid chromatography. Seven α-thalassemia and 17 β-thalassemia genotypes commonly found in the Chinese population were detected by Gap-polymerase chain reaction and reverse dot hybridization. Read More

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http://dx.doi.org/10.1080/17474086.2020.1803736DOI Listing

α-Thalassemia Intermedia Results from Interactions of Unstable Hb Prato [α31(B12)Arg→Ser ( or c.96G>T or C)] with the α-Thalassemia-1 [- - (Southeast Asian)] Deletion in Thailand.

Hemoglobin 2020 Jul 29:1-8. Epub 2020 Jul 29.

Department of Medical Technology, Lampang Hospital, Lampang, Thailand.

The clinical consequences of many abnormal hemoglobins (Hbs) interacting with α- or β-thalassemia (α- or β-thal) or other hemoglobinopathies have not been described. We evaluated a 75-year-old Thai woman and her 45-year-old daughter. Hematological data was obtained on an automated cell counter. Read More

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http://dx.doi.org/10.1080/03630269.2020.1797773DOI Listing

Complications and Challenges in the Management of Iraqi Patients with β-Thalassemia Major: A Single-center Experience.

Oman Med J 2020 Jul 27;35(4):e152. Epub 2020 Jul 27.

Department of Pathology, College of Medicine, University of Duhok, Duhok, Iraq.

Objectives: We sought to assess the complications and challenges facing the management of β-thalassemia major (β-TM) in Iraq.

Methods: A total of 150 consecutive patients with β-TM who were registered at a main thalassemia center in Northern Iraq were enrolled in the study. The patients had their records reviewed, were clinically evaluated, and investigated for various complications. Read More

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http://dx.doi.org/10.5001/omj.2020.72DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7383834PMC

Impact of COVID-19 Infection on 24 Patients with Sickle Cell Disease. One Center Urban Experience, Detroit, MI, USA.

Hemoglobin 2020 Jul 28:1-6. Epub 2020 Jul 28.

Department of Hematology and Oncology, Henry Ford Health System, Detroit, MI, USA.

The city of Detroit has a large population of individuals with sickle cell disease, and hospitals in Detroit have seen some of the highest numbers of cases of coronavirus disease-19 (COVID-19) in 2020. The purpose of this study was to examine the pathophysiological characteristics of COVID-19 in patients with sickle cell disease or trait to determine whether these patients have unique manifestations that might require special consideration. This retrospective analysis included 24 patients with confirmed COVID-19 and sickle cell disease or trait who were seen at the Henry Ford Hospital, Detroit, MI, USA, between March 1 and April 15 2020. Read More

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http://dx.doi.org/10.1080/03630269.2020.1797775DOI Listing

Evaluation of Erythroferrone, Hepcidin, and Iron Overload Status in Iraqi Transfusion-Dependent β-Thalassemia Major Patients.

Hemoglobin 2020 Jul 27:1-6. Epub 2020 Jul 27.

Protein Research Center, Shahid Beheshti University, G.C., Tehran, Iran.

Patients with β-thalassemia major (β-TM) show ineffective erythropoiesis and iron overload, which is the leading cause of mortality and organ injury. The present study aimed to investigate the relationships between two iron regulatory hormones, hepcidin and erythroferrone (ERFE) levels, and iron status parameters in Iraqi patients with β-TM. Iron status parameters and hormones were measured in 60 patients and compared with 30 healthy controls. Read More

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http://dx.doi.org/10.1080/03630269.2020.1794888DOI Listing

Design, synthesis, and optimization of a series of 2-azaspiro[3.3]heptane derivatives as orally bioavailable fetal hemoglobin inducers.

Bioorg Med Chem Lett 2020 Jul 24:127425. Epub 2020 Jul 24.

Asubio Pharma Co. Ltd, 6-4-3 Minatojima-Minamimachi, Chuo-ku, Kobe, Hyogo 650-0047, Japan.

Pharmacological reactivation of the γ-globin gene for the production of fetal hemoglobin (HbF) is a promising approach for the management of β-thalassemia and sickle cell disease (SCD). We conducted a phenotypic screen in human erythroid progenitor cells to identify molecules that could induce HbF, which resulted in identification of the hit compound 1. Exploration of structure-activity relationships and optimization of ADME properties led to 2-azaspiro[3. Read More

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http://dx.doi.org/10.1016/j.bmcl.2020.127425DOI Listing

Development of DNA controls for detection of β-thalassemia mutations commonly found in Asian.

Int J Lab Hematol 2020 Jul 24. Epub 2020 Jul 24.

Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, Thailand.

Introduction: Several DNA-based approaches including a reverse dot-blot hybridization (RDB) have been established for detection of β-thalassemia genotypes to provide accurate genetic counseling and prenatal diagnosis for prevention and control of severe β-thalassemia. However, one of major concerns of these techniques is a risk of misdiagnosis due to a lack of DNA controls. Here, we constructed positive DNA controls for β-thalassemia genotyping in order to ensure that all steps in the analysis are performed properly. Read More

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http://dx.doi.org/10.1111/ijlh.13292DOI Listing

Pulmonary Edema in Hb S/β+ thalassemia Patient Leading to Acute Chest Syndrome. A Case Report and Review of Literature.

Am J Med Case Rep 2020 18;8(10):332-334. Epub 2020 Jun 18.

Department of Medicine, SUNY-Downstate Health Sciences University, 450 Clarkson Avenue, Brooklyn, New York 11203, USA.

Acute chest syndrome (ACS) is associated with prolonged hospitalization and high mortality in sickle cell population. The etiology of ACS is often multifactorial. It is well known that any chest pain that limits ventilation, blood flow or oxygenation establishes the risk of ACS. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7377602PMC

Population Pharmacokinetics and Exposure-Response Relationship of Luspatercept, an Erythroid Maturation Agent, in Anemic Patients With β-Thalassemia.

J Clin Pharmacol 2020 Jul 21. Epub 2020 Jul 21.

Bristol Myers Squibb, Princeton, New Jersey, USA.

β-Thalassemia is an inherited blood disorder resulting from defects in hemoglobin production, leading to premature death of red blood cells (RBCs) or their precursors. Patients with transfusion-dependent β-thalassemia often need lifelong regular RBC transfusions to maintain adequate hemoglobin levels. Frequent transfusions may lead to iron overload and organ damage. Read More

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http://dx.doi.org/10.1002/jcph.1696DOI Listing

Socio-religious Prognosticators of Psychosocial Burden of Beta Thalassemia Major.

J Relig Health 2020 Jul 21. Epub 2020 Jul 21.

International Islamic University Islamabad, Islamabad, Pakistan.

The study investigates the socio-religious factors in the propagation of genetically inherited disease of Beta thalassemia. The disorder which reportedly has a significant protraction through repeated cousin marriages results in the social maladjustment of the parents of the sick children due to constant depression, anxiety, and weak social interaction and may lead to social isolation as well. This research aims to find out the significant effect of socio-religious trends on psychosocial burden of beta thalassemia major among cousin and non-cousin couples in the province of Punjab in Pakistan. Read More

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http://dx.doi.org/10.1007/s10943-020-01069-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7372744PMC

Development of the Next Generation Sequencing-Based Diagnostic Test for β-Thalassemia and its Validation in a Pashtun Family.

Hemoglobin 2020 Jul 20:1-5. Epub 2020 Jul 20.

Center for Genome Sciences, Rehman Medical College (RMC), Peshawar, Khyber Pakhtunkhwa (KP), Pakistan.

β-Thalassemia (β-thal) is a common monogenic disease with ethnic-specific mutations on the gene throughout the world. The reported mutations either reduce the expression or completely inactivate the gene. In Pakistan, the prevalence of β-thal is high due to consanguineous marriages. Read More

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http://dx.doi.org/10.1080/03630269.2020.1793773DOI Listing

Progress and Perspectives in the Development of Lentiviral Vector Producer Cells.

Biotechnol J 2020 Jul 20:e2000017. Epub 2020 Jul 20.

iBET, Instituto de Biologia Experimental e Tecnológica, Apartado 12, 2781-901, Oeiras, Portugal.

After two decades of clinical trials, gene therapy demonstrated effectiveness in the treatment of a series of diseases. Currently, several gene therapy products are approved and used in the clinic. Lentiviral vectors (LVs) are one of the most used transfer vehicles to deliver genetic material and the vector of choice to modify hematopoietic cells to correct primary immunodeficiencies, hemoglobinopathies, and leukodystrophies. Read More

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http://dx.doi.org/10.1002/biot.202000017DOI Listing

Corrigendum to "Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq".

Biomed Res Int 2020 30;2020:2453270. Epub 2020 Jun 30.

Thalassemia and Congenital Blood Disorders Center, Sulaymaniyah 46001, Iraq.

[This corrects the article DOI: 10.1155/2020/2807120.]. Read More

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http://dx.doi.org/10.1155/2020/2453270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7346104PMC

Frequency of thyroid nodules in patients with β-thalassemias in Southern Iran.

Acta Endocrinol (Buchar) 2020 Jan-Mar;16(1):68-73

Shiraz University of Medical Sciences, Hematology Research Center - Shiraz, Iran.

Background: Although thyroid nodules are a common finding in the general population, determining the clinically important nodules is essential. We investigated thyroid nodules or cysts by thyroid ultrasonography (US) in patients with β-thalassemia major (β-TM) and intermedia (β-TI). We also report a β-TI patient who was diagnosed with thyroid cancer six months before our screening. Read More

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http://dx.doi.org/10.4183/aeb.2020.68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7363994PMC

A high frequency of Gilbert syndrome (UGT1A1*28/*28) and associated hyperbilirubinemia but not cholelithiasis in adolescent and adult north Indian patients with transfusion-dependent β-thalassemia.

Ann Hematol 2020 Jul 16. Epub 2020 Jul 16.

Department of Hematology, PGIMER, Level 5, Research Block A, Sector 12, Chandigarh, 160012, India.

Hyperbilirubinemia and pigment gallstones are frequent complications in transfusion-dependent β-thalassemia (TDβT) patients. Bilirubin production and clearance are determined by genetic as well as environmental variables like ineffective erythropoiesis, hemolysis, infection-induced hepatic injury, and drug- or iron-related toxicities. We studied the frequency of the Gilbert syndrome (GS), a common hereditary cause of hyperbilirubinemia in 102 TDβT patients aged 13-43 years (median 26 years). Read More

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http://dx.doi.org/10.1007/s00277-020-04176-2DOI Listing

The Effect of Five Single Nucleotide Polymorphisms on Hb F Variation of β-Thalassemia Traits and Hematologically Normal Individuals in Southeast Turkey.

Hemoglobin 2020 Jul 16:1-9. Epub 2020 Jul 16.

Department of Biology, Faculty of Science and Letters, Adıyaman University, Adıyaman, Turkey.

β-Thalassemia (β-thal) is caused by deficiency of β-globin chain synthesis and leads to the accumulation of unstable globin chain production. This results in a higher Hb F level in order to neutralize the excess α chains. In addition, γ-globin gene expression, due to genetic factors after birth, leads to increased Hb F levels in adulthood [hereditary persistence of fetal hemoglobin (Hb) (HPFH)]. Read More

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http://dx.doi.org/10.1080/03630269.2020.1787178DOI Listing

Hematological Characteristics of β-Globin Gene Mutation -50 (G>A) (: c.-100G>A) Carriers in Mainland China.

Hemoglobin 2020 Jul 16:1-4. Epub 2020 Jul 16.

Prenatal Diagnostic Center, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong Province, People's Republic of China.

The -50 (G>A) (: c.-100G>A) mutation was first reported as a β-thalassemia (β-thal) allele in a Chinese family. However, the hematological features of carriers with this variant are not available. Read More

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http://dx.doi.org/10.1080/03630269.2020.1793774DOI Listing

Two Novel and Five Rare Mutations in the Non Coding Regions of the β-Globin Gene in the Iranian Population.

Hemoglobin 2020 Jul 16:1-6. Epub 2020 Jul 16.

Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran.

β-Thalassemia (β-thal) is one of the most frequent genetic disorder in Iran with great mutational diversity. In this study, we describe two novel and five rare mutations in the non coding regions of the β-globin gene; these mutations were identified in the non coding regions of the β-globin gene () in the heterozygous state. Three alterations were detected in the promoter region, including -9 (C>G) [: c. Read More

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http://dx.doi.org/10.1080/03630269.2020.1790384DOI Listing

Update in Laboratory Diagnosis of Thalassemia.

Front Mol Biosci 2020 27;7:74. Epub 2020 May 27.

Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, Thailand.

Alpha- and β-thalassemias and abnormal hemoglobin (Hb) are common in tropical countries. These abnormal globin genes in different combinations lead to many thalassemic diseases including three severe thalassemia diseases, i.e. Read More

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http://dx.doi.org/10.3389/fmolb.2020.00074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7326097PMC

Preliminary Data on COVID-19 in Patients with Hemoglobinopathies: A Multicentre ICET-A Study.

Mediterr J Hematol Infect Dis 2020 1;12(1):e2020046. Epub 2020 Jul 1.

Emeritus Director in Pediatrics, "Santobono-Pausilipon" Children's Hospital, Naples, Italy.

Objectives: This study aims to investigate, retrospectively, the epidemiological and clinical characteristics, laboratory results, radiologic findings, and outcomes of COVID-19 in patients with transfusion-dependent β thalassemia major (TM), β-thalassemia intermedia (TI) and sickle cell disease (SCD).

Design: A total of 17 Centers, from 10 countries, following 9,499 patients with hemoglobinopathies, participated in the survey.

Main Outcome Data: Clinical, laboratory, and radiologic findings and outcomes of patients with COVID-19 were collected from medical records and summarized. Read More

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http://dx.doi.org/10.4084/MJHID.2020.046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7340245PMC

Seroprevalence of HBV, HCV and HIV-1 and Correlation with Molecular Markers among Multi-Transfused Thalassemia Patients in Western India.

Mediterr J Hematol Infect Dis 2020 1;12(1):e2020038. Epub 2020 Jul 1.

Surat Raktadan Kendra & Research Centre, 1.

Background: Multitransfused β-thalassemia major patients are always at high risk of having Transfusion Transmitted Infections (TTIs). This study was aimed to determine the seroprevalence of HBsAg, Anti-HIV-1/2, and Anti-HCV among these patients and to correlate the same with NAT testing.

Methods: A total of 196 patients with β-thalassemia were included in the study. Read More

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http://dx.doi.org/10.4084/MJHID.2020.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7340250PMC

Association of rs4701 Variant, but not -α Over-Expression with Bone Mineral Density in Pediatric Well-Chelated β-Thalassemia Patients.

Mediterr J Hematol Infect Dis 2020 1;12(1):e2020037. Epub 2020 Jul 1.

Pediatric Department, Faculty of Medicine, Suez Canal University, Ismailia, Egypt.

Background: The reduced rate of bone formation despite the availability of vitamin D has been reported in β-thalassemia. Genetic factors, together with environmental ones, could be implicated in this condition. Since vitamin D binding protein (VDBP) maintains bioavailability of vitamin D which binds to vitamin D receptor (VDR)-retinoid X receptor alpha (RXRA) heterodimer to exert its molecular actions, we speculated that vitamin D metabolic-axis expression signature and variants could be potential molecular candidates for bone turnover/disease in thalassemia. Read More

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http://dx.doi.org/10.4084/MJHID.2020.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7340238PMC

Effects of α-tocopherol on hemolysis and oxidative stress markers on red blood cells in β-thalassemia major.

Clin Exp Pediatr 2020 Aug 15;63(8):314-320. Epub 2020 Aug 15.

Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Indonesia/Dr. Cipto Mangunkusumo Hospital, Jakarta, Indonesia.

Background: The accumulation of unpaired α-globin chains in patients with β-thalassemia major may clinically create ineffective erythropoiesis, hemolysis, and chronic anemia. Multiple blood transfusions and iron overload cause cellular oxidative damage. However, α-tocopherol, an antioxidant, is a potent scavenger of lipid radicals in the membranes of red blood cells (RBCs) of patients with β-thalassemia major. Read More

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http://dx.doi.org/10.3345/cep.2019.00542DOI Listing

Reduction of Liver Iron Load in Adult Patients with β-Thalassemia Major Treated with Modern Chelation Modalities.

Folia Med (Plovdiv) 2020 Jun;62(2):265-270

Hematology Section, First Department of Internal Medicine, Medical University of Plovdiv, Plovdiv, Bulgaria.

Background: Management of beta-thalassemia major (TM) requires life-long hemotransfusions leading to iron overload. Iron elimination is enhanced by the use of modern chelators.

Aim: To assess the effect of modern chelation therapy by dynamics of serum ferritin concentration and liver MRI T2*. Read More

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http://dx.doi.org/10.3897/folmed.62.e39518DOI Listing

β-Globin Gene Mutations in Pediatric Patients with β-Thalassemia in the Region of Çukurova, Turkey.

Hemoglobin 2020 Jul 14:1-5. Epub 2020 Jul 14.

Department of Medical Biochemistry, Faculty of Medicine, Çukurova University, Adana, Turkey.

β-Thalassemia (β-thal) is one of the most common genetic disorders in Turkey. In this study, we investigated the mutations and frequency of β-thal at the molecular level in pediatric β-thal patients in the Çukurova region. The β-thal mutations of 52 cases were analyzed. Read More

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http://dx.doi.org/10.1080/03630269.2020.1792489DOI Listing

Cost-utility of new film-coated tablet formulation of deferasirox vs deferoxamine among major beta-thalassemia patients in Iran.

Medicine (Baltimore) 2020 Jul;99(28):e20949

Pharmaceutical Management and Economic Research Center, The Institute of Pharmaceutical Sciences (TIPS), Tehran University of Medical Sciences, Tehran, Iran.

Objectives: Thalassemia is a hereditary disease, which caused economic burden in developing countries. This study evaluated the cost utility of new formulation of deferasirox (Jadenu) vs deferoxamine (Desferal) among B-Thalassemia-major patients from payer perspective in Iran.

Methods: An economic-evaluation through Markov model was performed. Read More

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http://dx.doi.org/10.1097/MD.0000000000020949DOI Listing
July 2020
5.723 Impact Factor

Serum folate and cytokines in heterozygous β-thalassemia.

Int J Lab Hematol 2020 Jul 14. Epub 2020 Jul 14.

Departamento de Análises Clínicas e Toxicológicas, Faculdade de Ciências Farmacêuticas, Universidade de São Paulo, São Paulo, Brazil.

Introduction: Folate deficiency is commonly reported in β-thalassemia. Individuals heterozygous for β-thalassemia may have higher folate requirements than normal individuals.

Objectives: To document the concentration of serum total folate and its forms in β-thalassemia heterozygote users (β-TmU) and nonusers (β-TmN) of 5 mg folic acid/d; to determine whether folic acid (FA) consumption from fortified foods allows beta-Tm patients, who do not take FA supplements, to meet their dietary folate requirements; and to investigate the association between higher serum unmetabolized folic acid (UMFA) and inflammatory cytokine concentrations. Read More

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http://dx.doi.org/10.1111/ijlh.13287DOI Listing

Tenofovir disoproxil fumarate induces fetal hemoglobin production in K562 cells and β-YAC transgenic mice: A therapeutic approach for γ-globin induction.

Exp Cell Res 2020 Jul 9:112168. Epub 2020 Jul 9.

Dr. Panjwani Center for Molecular Medicine and Drug Research, International Center for Chemical and Biological Sciences, University of Karachi, Karachi, 75270, Pakistan; H.E.J. Research Institute of Chemistry, International Center for Chemical and Biological Sciences, University of Karachi, Karachi, 75270, Pakistan. Electronic address:

Pharmacologic induction of fetal hemoglobin (HbF) is an effective strategy for treating β-hemoglobinopathies like β-thalassemia and sickle cell anemia by ameliorating disease severity. Hydroxyurea is the only FDA-approved agent that induces HbF, but significant nonresponders and toxicity limit its clinical usefulness. This study relates preclinical investigation of Tenofovir disoproxil fumarate (TDF) as a potential HbF inducing agent, using human erythroleukemia cell line and a β-YAC mouse model. Read More

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http://dx.doi.org/10.1016/j.yexcr.2020.112168DOI Listing

Luspatercept to treat β-thalassemia.

Authors:
F Pilo E Angelucci

Drugs Today (Barc) 2020 Jul;56(7):447-458

Hematology and Transplant Center, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.

Recently, after years of research often characterized by disappointments and frustrations, finally a new drug impacting on pathological human erythropoiesis has been developed and approved. This drug, luspatercept-aamt (Reblozyl), proved to be effective in both malignant and nonmalignant disease characterized by ineffective erythropoiesis with consequent life-threatening severe anemia. Moreover, for the first time, a medication demonstrated efficacy and effectiveness in β-thalassemia where no other drug, including recombinant human erythropoietin, showed effectiveness in improving anemia. Read More

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http://dx.doi.org/10.1358/dot.2020.56.7.3159184DOI Listing

Efficacy of Dichlorophenolindophenol (DCIP) as Screening Test for Hb E: Revisited.

Indian J Hematol Blood Transfus 2020 Jul 4;36(3):535-541. Epub 2019 Dec 4.

Department of Hematology, NRS Medical College, Kolkata, 700014 India.

Hb E-beta thalassemia is a major public health problem in West Bengal, India and is the predominant symptom producing thalassemia in this part of the country. To search for an easy, reliable and cost effective screening method for HbE that can be used at the community level where more sophisticated methods are not readily available. And the DCIP test was performed for the purpose. Read More

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http://dx.doi.org/10.1007/s12288-019-01235-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7326899PMC

Deferasirox-induced liver injury and Fanconi syndrome in a beta-thalassemia major male.

BMJ Case Rep 2020 Jul 9;13(7). Epub 2020 Jul 9.

Gastroenterology and Hepatology Department, Northern Health, Epping, Victoria, Australia.

A 33-year-old male presenting with subacute abdominal pain was found to have hyperbilirubinaemia, hypokalaemia and hyponatraemia. This was in the setting of transitioning between deferasirox iron chelator formulations, from dispersible tablets to film-coated tablets for ongoing treatment of chronic iron overload secondary to transfusion requirement for beta-thalassemia major. A liver biopsy demonstrated acute cholestasis with patchy confluent hepatocellular necrosis and mild to moderate microvesicular steatosis. Read More

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http://dx.doi.org/10.1136/bcr-2020-234542DOI Listing

Detection of HBB:c.92+5G>C and HBB:c.108delC mutations in β-thalassemia carriers using high-resolution melting analysis.

Mol Biol Rep 2020 Jul 7. Epub 2020 Jul 7.

Laboratory of Genetics and Breeding, Faculty of Biology, Universitas Gadjah Mada, Yogyakarta, 55281, Indonesia.

The HBB:c.92+5G>C [known as IVSI-5 (GC)] and HBB:c.108delC [known as Cd 35 (del C)] are the β-globin gene mutations that commonly found in Indonesia. Read More

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http://dx.doi.org/10.1007/s11033-020-05625-xDOI Listing

Incorporating a clinical oncology pharmacist into an ambulatory care pharmacy in pediatric hematology-oncology and transplant clinic: Assessment and significance.

J Oncol Pharm Pract 2020 Jul 6:1078155220934167. Epub 2020 Jul 6.

National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, Pakistan.

Background: Beta thalassemia patients, post-bone marrow transplant, and leukemia patients require long term therapy with an intense care follow-up especially for pediatric hematology-oncology origin. Emergence of side effects and noncompliance to therapy lead to reduced efficacy of medicines resulting in relapse of diseases. There is an increasing fact to support the incorporation of a pharmacist into clinical team due to their distinctive skills. Read More

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http://dx.doi.org/10.1177/1078155220934167DOI Listing

Beta-thalassemia may protect against COVID 19.

Authors:
Emmanuel Drouin

Med Hypotheses 2020 Jun 28;143:110014. Epub 2020 Jun 28.

Centre Supérieur de la Renaissance, 59 rue Néricault Destouches, 37013 Tours, France. Electronic address:

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http://dx.doi.org/10.1016/j.mehy.2020.110014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7321655PMC

Replacing the suppressed hormone: toward a better treatment for iron overload in β-thalassemia major?

Haematologica 2020 Jul;105(7):1752-1754

Department of Medicine, Section of Internal Medicine, University of Verona, EuroBloodNet Referral Center for Iron Metabolism Disorders, Azienda Ospedaliera Universitaria Integrata of Verona, Verona, Italy.

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http://dx.doi.org/10.3324/haematol.2020.253393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7327657PMC

Necrobiosis Lipoidica in a Patient with β-Thalassemia Major: A Case Report and Review of the Literature.

Hemoglobin 2020 May 1;44(3):221-223. Epub 2020 Jul 1.

Adult Thalassemia Unit, Second Department of Internal Medicine, Hippokration Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.

Necrobiosis lipoidica (NL) is a rare granulomatous disease that predominantly affects middle-aged women and is often associated with diabetes mellitus (DM), rheumatoid arthritis (RA) and other metabolic disorders. Thalassemias are the most common hereditary hemoglobin (Hb) disorders worldwide. A few studies investigated dermatologic problems that coexist with β-thalassemia major (β-TM). Read More

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http://dx.doi.org/10.1080/03630269.2020.1783287DOI Listing

A Woman with Missing Hb A Due to a Novel (εγ)δβ-Thalassemia and a Novel δ-Globin Variant Hb A-Gebenstorf (: c.209G>A).

Hemoglobin 2020 May 1;44(3):214-217. Epub 2020 Jul 1.

Analytica Medizinische Laboratorien AG, Zürich, Switzerland.

A woman completely lacking Hb A on the high performance liquid chromatography (HPLC) analysis, presented with a novel deletional (εγ)δβ-thal and a δ-globin gene variant. This combination causes a β-thalassemia (β-thal) minor phenotype. The woman was referred by a hematologist due to abnormal blood counts. Read More

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http://dx.doi.org/10.1080/03630269.2020.1779739DOI Listing

Pseudoxanthoma elasticum in childhood in patient with β-thalassaemia.

Arch Soc Esp Oftalmol 2020 Jun 24. Epub 2020 Jun 24.

Departamento de Oftalmología, Hospital General, Valencia, España.

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterised by elastic tissue alterations and caused by mutations in a single gene, ABCC6, on chromosome 16p that includes manifestations that are predominantly cutaneous, ocular and cardiovascular. PXE-like lesions in association with β-thalassemia have previously been reported in the literature in patients with β-thalassaemia intermediate and major, being clinically indistinguishable from classic PXE. The case is presented of a 10-year-old boy with β-thalassaemia minor and characteristic lesions of PXE. Read More

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http://dx.doi.org/10.1016/j.oftal.2020.05.018DOI Listing

Determination of mutations in iron regulating genes of beta thalassemia major patients of Khyber Pakhtunkhwa, Pakistan.

Mol Genet Genomic Med 2020 Jun 25:e1310. Epub 2020 Jun 25.

Institute of Biotechnology and Genetic Engineering (Health Division), The University of Agricultural Peshawar, Peshawar, Pakistan.

Background: Hepcidin and hemochromatosis (HFE) are iron regulatory proteins that are encoded by HAMP and HFE genes. Mutation in either HAMP gene or HFE gene causes Hepcidin protein deficiency that can lead to iron overload in beta thalassemia patients. The aim of this research work was to study the presence of G71D mutation of HAMP gene and H63D mutation of HFE gene in beta thalassemia major and minor group to check the association of these mutations with serum ferritin level of beta thalassemia patients. Read More

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http://dx.doi.org/10.1002/mgg3.1310DOI Listing

Combination of ferric ammonium citrate with cytokines involved in apoptosis and insulin secretion of human pancreatic beta cells related to diabetes in thalassemia.

PeerJ 2020 16;8:e9298. Epub 2020 Jun 16.

Department of Clinical Microscopic, Faculty of Medical Technology, Mahidol University, Nakhon Pathom, Thailand.

Background: Diabetes mellitus (DM) is a common complication found in β-thalassemia patients. The mechanism of DM in β-thalassemia patients is still unclear, but it could be from an iron overload and increase of some cytokines, such as interleukin1-β (IL-1β) and tumor necrosis factor-α (TNF-α). The objective of this study was to study the effect of interaction between ferric ammonium citrate (FAC) and cytokines, IL-1β and TNF-α, on 1. Read More

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http://dx.doi.org/10.7717/peerj.9298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304432PMC

Genotype-Phenotype Correlation of β-Thalassemia in Malaysian Population: Toward Effective Genetic Counseling.

Hemoglobin 2020 May 26;44(3):184-189. Epub 2020 Jun 26.

Thalassaemia Research Centre, Institute of Molecular Biosciences, Mahidol University, Nakornpathom, Thailand.

Effective prevention of β-thalassemia (β-thal) requires strategies to detect at-risk couples. This is the first study attempting to assess the prevalence of silent β-thal carriers in the Malaysian population. Hematological and clinical parameters were evaluated in healthy blood donors and patients with β-thal trait, Hb E (: c. Read More

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http://dx.doi.org/10.1080/03630269.2020.1781652DOI Listing
May 2020
0.955 Impact Factor

Anterior Chamber Angle, Intraocular Pressure, and Globe Biometric Parameters in the Children with β-Thalassemia Major.

J Curr Glaucoma Pract 2020 Jan-Apr;14(1):30-36

Ophthalmology Department, Al-Azher University, Faculty of Medicine, Cairo, Egypt.

Background: To evaluate the intraocular pressure (IOP), anterior chamber angle (ACA), and globe biometric parameters in β-thalassemia major children and the correlations of these changes.

Materials And Methods: Eighty-four eyes were included (42 eyes of thalassemia patients and 42 eyes of control). All participates underwent head circumference and height measurements, full ophthalmic examination, anterior segment optical coherence tomography (AS-OCT), and A-scan biometry. Read More

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http://dx.doi.org/10.5005/jp-journals-10078-1274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7302607PMC

Thalassemia Major and Intermedia Patients in East Java do not Show Fetal Hemoglobin Level Difference in Relation to XMNI Polymorphism.

Med Arch 2020 Apr;74(2):90-94

Department of Parasitology, Faculty of Medicine, University of Brawijaya, Indonesia.

Introduction: Thalassemia is a genetic disorder, which shows, varies phenotype due to genetic modifier. is one of the genetic modifiers which affect clinical severity in thalassemia. I polymorphism may increase HbF production beyond fetal life, thus ameliorating the clinical phenotype. Read More

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http://dx.doi.org/10.5455/medarh.2020.74.90-94DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7296421PMC

UNC0638 induces high levels of fetal hemoglobin expression in β-thalassemia/HbE erythroid progenitor cells.

Ann Hematol 2020 Jun 21. Epub 2020 Jun 21.

Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, 25/25 Phuttamonthon 4 Road, Salaya, Nakhon Pathom, 73170, Thailand.

Increased expression of fetal hemoglobin (HbF) improves the clinical severity of β-thalassemia patients. EHMT1/2 histone methyltransferases are epigenetic modifying enzymes that are responsible for catalyzing addition of the repressive histone mark H3K9me2 at silenced genes, including the γ-globin genes. UNC0638, a chemical inhibitor of EHMT1/2, has been shown to induce HbF expression in human erythroid progenitor cell cultures. Read More

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http://dx.doi.org/10.1007/s00277-020-04136-wDOI Listing

Application of HbA levels and red cell indices-based new model in the differentiation of thalassemia traits from iron deficiency in hypochromic microcytic anemia Cases.

Int J Lab Hematol 2020 Jun 21. Epub 2020 Jun 21.

The First People's Hospital of Changde, Changde, China.

Introduction: Thalassemia traits and iron deficiency anemia are the most common types of hypochromic microcytic anemia with similar clinical and laboratory features. It is vital to establish a new screening model based on HbA levels and red cell indices for the differentiation of TT from IDA in hypochromic microcytic anemia cases.

Method: The data comprised of the red blood cell indices and HbA prenatal diagnostic test results of 810 individuals who were identified to conform to the following criteria: MCV < 80 fl or MCH < 26 pg. Read More

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http://dx.doi.org/10.1111/ijlh.13270DOI Listing

Gene therapies for transfusion dependent β-Thalassemia: current status and critical criteria for success.

Authors:
Sandeep Soni

Am J Hematol 2020 Jun 19. Epub 2020 Jun 19.

Division of Pediatric Stem Cell Transplant and RM, Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA.

Thalassemia is one of the most prevalent monogenic diseases most frequently caused by quantitative defects in the production of β-globin leading to severe anemia. Technological advances in genome sequencing, stem cell selection, viral vector development, transduction and gene-editing strategies now allow for efficient ex-vivo genetic manipulation of human stem cells that can lead to correction leading to a meaningful clinical benefit in thalassemia patients. In this review, the status of the gene-therapy approaches available for transfusion dependent thalassemia are discussed, along with the critical criteria that affect efficacy and lessons that have been learned from the early phase trials. Read More

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http://dx.doi.org/10.1002/ajh.25909DOI Listing

Beta Thalassemia: New Therapeutic Options Beyond Transfusion and Iron Chelation.

Drugs 2020 Jul;80(11):1053-1063

Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.

Hemoglobinopathies are among the most common monogenic diseases worldwide. Approximately 1-5% of the global population are carriers for a genetic thalassemia mutation. The thalassemias are characterized by autosomal recessive inherited defects in the production of hemoglobin. Read More

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http://dx.doi.org/10.1007/s40265-020-01341-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7299245PMC