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thalassemia and hemoglobinopathies

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https://www.readbyqxmd.com/read/27891555/the-epidemiologic-transition-of-thalassemia-and-associated-hemoglobinopathies-in-southern-taiwan
#1
Hui-Ching Wang, Li-Ling Hsieh, Yi-Chang Liu, Hui-Hua Hsiao, Shu-Kai Lin, Wen-Chan Tsai, Ta-Chih Liu
Since 1993, following the National Thalassemia Major Prevention Program and an increase in immigration and interracial marriages, especially in southern Taiwan, the distribution of hemoglobinopathies may have changed. This study investigates the epidemiologic transition of hemoglobinopathies. We analyzed 1870 specimens collected between 2003 and 2012 in southern Taiwan, used gap-polymerase chain reaction and PCR-restriction fragment length polymorphism-based methods, and confirmed genotypes of hemoglobinopathies by DNA sequencing...
November 28, 2016: Annals of Hematology
https://www.readbyqxmd.com/read/27891535/gene-therapy-for-hemoglobin-disorders-a-mini-review
#2
Parul Rai, Punam Malik
Gene therapy by either gene insertion or editing is an exciting curative therapeutic option for monogenic hemoglobin disorders like sickle cell disease and β-thalassemia. The safety and efficacy of gene transfer techniques has markedly improved with the use of lentivirus vectors. The clinical translation of this technology has met with good success, although key limitations include number of engraftable transduced hematopoietic stem cells and adequate transgene expression that results in complete correction of β0 thalassemia major...
2016: Journal of Rare Diseases Research & Treatment
https://www.readbyqxmd.com/read/27883199/hepcidin-detects-iron-deficiency-in-sri-lankan-adolescents-with-a-high-burden-of-hemoglobinopathy-a-diagnostic-test-accuracy-study
#3
Katherine Wray, Angela Allen, Emma Evans, Chris Fisher, Anuja Premawardhena, Lakshman Perera, Rexan Rodrigo, Gayan Goonathilaka, Lebbe Ramees, Craig Webster, Andrew E Armitage, Andrew M Prentice, David J Weatherall, Hal Drakesmith, Sant-Rayn Pasricha
Anemia affects over 800 million women and children globally. Measurement of hepcidin as an index of iron status shows promise, but its diagnostic performance where hemoglobinopathies are prevalent is unclear. We evaluated the performance of hepcidin as a diagnostic test of iron deficiency in adolescents across Sri Lanka. We selected 2273 samples from a nationally representative cross-sectional study of 7526 secondary schoolchildren across Sri Lanka and analyzed associations between hepcidin and participant characteristics, iron indices, inflammatory markers and hemoglobinopathy states...
November 24, 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27853395/animal-models-of-%C3%AE-hemoglobinopathies-utility-and-limitations
#4
REVIEW
Bradley McColl, Jim Vadolas
The structural and functional conservation of hemoglobin throughout mammals has made the laboratory mouse an exceptionally useful organism in which to study both the protein and the individual globin genes. Early researchers looked to the globin genes as an excellent model in which to examine gene regulation - bountifully expressed and displaying a remarkably consistent pattern of developmental activation and silencing. In parallel with the growth of research into expression of the globin genes, mutations within the β-globin gene were identified as the cause of the β-hemoglobinopathies such as sickle cell disease and β-thalassemia...
2016: Journal of Blood Medicine
https://www.readbyqxmd.com/read/27846660/diabetes-in-patients-with-%C3%A3-thalassemia-or-other-hemoglobinopathies-analysis-from-the-dpv-database
#5
K Warncke, K Konrad, E Kohne, E Hammer, U Ohlenschläger, S Herrlinger, A Jäger, R W Holl
Background: Diabetes mellitus is a common endocrinopathy in patients with thalassemia major, but the occurrence of hemoglobinopathies is rare in Germany and Western Europe. The longitudinal German-Austrian DPV (Diabetes Patienten Verlaufsdokumentation) registry allows a comprehensive characterization of this group of patients. Patients/methods: Patients from the DPV-registry aged<30 years with thalassemia major or other hemoglobinopathies were compared to patients with type 1 diabetes (T1D) and type 2 diabetes (T2D) using the statistical software SAS 9...
November 2016: Klinische Pädiatrie
https://www.readbyqxmd.com/read/27828729/cross-sectional-study-for-the-detection-of-mutations-in-the-beta-globin-gene-among-patients-with-hemoglobinopathies-in-the-bengali-population
#6
Amrita Panja, Prosanto Chowdhury, Sharmistha Chakraborty, Tapan Kumar Ghosh, Anupam Basu
AIMS: Thalassemia is a common autosomal recessive blood disorder, which is most prevalent in South East Asian and Mediterranean populations. It is considered as a major health burden in the Indian population. The aims of the present study were to investigate the common, as well as uncommon, mutations responsible for thalassemia in the Bengali population. METHODS: The Bengali state was divided into four sampling zones. Mutation detection was done using Sanger sequencing of the HBB gene...
November 9, 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27804209/national-registry-of-hemoglobinopathies-in-spain-rephem
#7
Elena Cela, José M Bellón, María de la Cruz, Cristina Beléndez, Rubén Berrueco, Anna Ruiz, Izaskun Elorza, Cristina Díaz de Heredia, Aurea Cervera, Griselda Vallés, J Antonio Salinas, M Teresa Coll, Mar Bermúdez, Marta Prudencio, Bienvenida Argilés, Cruz Vecilla
BACKGROUND: Although highly prevalent throughout the world, the accurate prevalence of hemoglobinopathies in Spain is unknown. PROCEDURE: This study presents data on the national registry of hemoglobinopathies of patients with thalassemia major (TM), thalassemia intermedia (TI), and sickle cell disease (SCD) in Spain created in 2014. Fifty centers reported cases retrospectively. Data were registered from neonatal screening or from the first contact at diagnosis until last follow-up or death...
November 2, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27767389/correlation-of-sin3a-genomic-variants-with-%C3%AE-hemoglobinopathies-disease-severity-and-hydroxyurea-treatment-efficacy
#8
Aikaterini Gravia, Vasiliki Chondrou, Alexandra Kolliopoulou, Alexandra Kourakli, Anne John, Argyris Symeonidis, Bassam R Ali, Argyro Sgourou, Adamantia Papachatzopoulou, Theodora Katsila, George P Patrinos
AIMS: Hemoglobinopathies, particularly β-thalassemia and sickle cell disease, are characterized by great phenotypic variability in terms of disease severity, while notable differences have been observed in hydroxyurea treatment efficacy. In both cases, the observed phenotypic diversity is mostly dependent on the elevated fetal hemoglobin levels, resulting from the persistent fetal globin gene expression in the adult erythroid stage orchestrated by intricate mechanisms that still remain only partly understood...
October 21, 2016: Pharmacogenomics
https://www.readbyqxmd.com/read/27736664/crispr-cas9-system-and-its-applications-in-human-hematopoietic-cells
#9
REVIEW
Xiaotang Hu
Since 2012, the CRISPR-Cas9 system has been quickly and successfully tested in a broad range of organisms and cells including hematopoietic cells. The application of CRISPR-Cas9 in human hematopoietic cells mainly involves the genes responsible for HIV infection, β-thalassemia and sickle cell disease (SCD). The successful disruption of CCR5 and CXCR4 genes in T cells by CRISPR-Cas9 promotes the prospect of the technology in the functional cure of HIV. More recently, eliminating CCR5 and CXCR4 in induced pluripotent stem cells (iPSCs) derived from patients and targeting the HIV genome have been successfully carried out in several laboratories...
November 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27708483/glycated-hemoglobin-hba1c-clinical-applications-of-a-mathematical-concept
#10
Melvin Khee Shing Leow
BACKGROUND AND PURPOSE: Glycated hemoglobin (HbA1c) reflects the cumulative glucose exposure of erythrocytes over a preceding time frame proportional to erythrocyte survival. HbA1c is thus an areal function of the glucose-time curve, an educationally useful concept to aid teaching and clinical judgment. METHODS: An ordinary differential equation is formulated as a parsimonious model of HbA1c. The integrated form yields HbA1c as an area-under-the-curve (AUC) of a glucose-time profile...
July 16, 2016: Acta Informatica Medica: AIM
https://www.readbyqxmd.com/read/27708211/can-mutations-in-the-gene-encoding-transcription-factor-eklf-erythroid-kr%C3%A3-ppel-like-factor-protect-us-against-infectious-and-parasitic-diseases
#11
Krzysztof Mikołajczyk, Radosław Kaczmarek, Marcin Czerwiński
Transcription factor EKLF (Erythroid Krüppel-Like Factor) belongs to the group of Krüppellike factors, which regulate proliferation, differentiation, development and apoptosis of mammalian cells. EKLF factor is present in erythroid cells, where it participates in regulation of hematopoiesis, expression of genes encoding transmembrane proteins (including blood group antigens), and heme biosynthesis enzymes. It is also a key factor in downregulation of γ-globins and activation of β-globin gene expression...
October 6, 2016: Postȩpy Higieny i Medycyny Doświadczalnej
https://www.readbyqxmd.com/read/27695619/the-potential-of-gene-therapy-approaches-for-the-treatment-of-hemoglobinopathies-achievements-and-challenges
#12
Michael A Goodman, Punam Malik
Hemoglobinopathies, including β-thalassemia and sickle cell disease (SCD), are a heterogeneous group of commonly inherited disorders affecting the function or levels of hemoglobin. Disease phenotype can be severe with substantial morbidity and mortality. Bone marrow transplantation is curative, but limited to those patients with an appropriately matched donor. Genetic therapy, which utilizes a patient's own cells, is thus an attractive therapeutic option. Numerous therapies are currently in clinical trials or in development, including therapies utilizing gene replacement therapy using lentiviruses and the latest gene editing techniques...
October 2016: Therapeutic Advances in Hematology
https://www.readbyqxmd.com/read/27667786/treatment-of-100-chronic-thalassemic-leg-wound-by-plasma-rich-platelets
#13
Hojjat Afradi, Yassaman Saghaei, Zohre A Kachoei, Vahid Babaei, Shahram Teimourian
OBJECTIVE: Thalassemia is a heterogeneous group of congenital hemoglobinopathies caused by mutations in the globin gene complex that result in an unbalanced globin synthesis. Unmatched globin chains bind to the cytosolic surface of red blood cell membrane where they cause oxidative damage that might in part be responsible for membrane weakness. The deformability of red blood cells and hypercoagulable state in thalassemic patients have been incriminated in leg ulcer formation, as this might cause ischemia to the skin and consequently friability and ulceration...
September 26, 2016: International Journal of Dermatology
https://www.readbyqxmd.com/read/27650096/hbe-%C3%AE-thalassemia-and-oxidative-stress-the-key-to-pathophysiological-mechanisms-and-novel-therapeutics
#14
Rhoda Elison Hirsch, Nathawut Sibmooh, Suthat Fucharoen, Joel M Friedman
SIGNIFICANCE: Oxidative stress and generation of free radicals are fundamental in initiating pathophysiological mechanisms leading to an inflammatory cascade resulting in high rates of morbidity and death from many inherited point mutation-derived hemoglobinopathies. Hemoglobin (Hb)E is the most common point mutation worldwide. The β(E)-globin gene is found in greatest frequency in Southeast Asia, including Thailand, Malaysia, Indonesia, Vietnam, Cambodia, and Laos. With the wave of worldwide migration, it is entering the gene pool of diverse populations with greater consequences than expected...
November 28, 2016: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/27638987/joint-sogc-ccmg-opinion-for-reproductive-genetic-carrier-screening-an-update-for-all-canadian-providers-of-maternity-and-reproductive-healthcare-in-the-era-of-direct-to-consumer-testing
#15
R Douglas Wilson, Isabelle De Bie, Christine M Armour, Richard N Brown, Carla Campagnolo, June C Carroll, Nan Okun, Tanya Nelson, Rhonda Zwingerman, Francois Audibert, Jo-Ann Brock, Richard N Brown, Carla Campagnolo, June C Carroll, Isabelle De Bie, Jo-Ann Johnson, Nan Okun, Melanie Pastruck, Karine Vallée-Pouliot, R Douglas Wilson, Rhonda Zwingerman, Christine Armour, David Chitayat, Isabelle De Bie, Sara Fernandez, Raymond Kim, Josee Lavoie, Norma Leonard, Tanya Nelson, Sherry Taylor, Margot Van Allen, Clara Van Karnebeek
OBJECTIVE: This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document. INTENDED USERS: All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7...
August 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/27615034/epidemiology-of-hemoglobinopathies-in-the-huzhou-region-zhejiang-province-southeast-china
#16
Zhong-Ying Ding, Guo-Song Shen, Su Zhang, Ping-Ya He
The aim of the present study was to report the frequency of thalassemia traits and other hemoglobinopathies in Huzhou City, Zhejiang Province, People's Republic of China (PRC), and for the future management of hemoglobinopathies. A total of 8578 pregnant women in the Huzhou region was analyzed for thalassemia traits and other hemoglobinopathies from July 1 2012 to November 30 2015. Complete blood count (CBC), and hemoglobin (Hb) variant analyses were performed with automatic counters and capillary electrophoresis (CE)...
September 11, 2016: Hemoglobin
https://www.readbyqxmd.com/read/27599293/lineage-specific-bcl11a-knockdown-circumvents-toxicities-and-reverses-sickle-phenotype
#17
Christian Brendel, Swaroopa Guda, Raffaele Renella, Daniel E Bauer, Matthew C Canver, Young-Jo Kim, Matthew M Heeney, Denise Klatt, Jonathan Fogel, Michael D Milsom, Stuart H Orkin, Richard I Gregory, David A Williams
Reducing expression of the fetal hemoglobin (HbF) repressor BCL11A leads to a simultaneous increase in γ-globin expression and reduction in β-globin expression. Thus, there is interest in targeting BCL11A as a treatment for β-hemoglobinopathies, including sickle cell disease (SCD) and β-thalassemia. Here, we found that using optimized shRNAs embedded within an miRNA (shRNAmiR) architecture to achieve ubiquitous knockdown of BCL11A profoundly impaired long-term engraftment of both human and mouse hematopoietic stem cells (HSCs) despite a reduction in nonspecific cellular toxicities...
October 3, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27561840/the-new-474-c%C3%A2-t-substitution-discovered-in-the-hbg2-promoter-of-a-sardinian-%C3%AE-%C3%AE-thalassemia-carrier
#18
Sandro Trova, Paolo Mereu, Elena Cocco, Bruno Masala, Laura Manca, Monica Pirastru
During a screening for hemoglobinopathies, we found a carrier of the Sardinian δβ-thalassemia condition. The proband's hematology and hemoglobin (Hb) profile agreed with those of the other carriers previously identified during our diagnostic program except for the fetal Hb (HbF) composition, which consisted of both α2Aγ2 and α2Gγ2 instead of nearly 100% α2Aγ2. In order to explain the unusual γ-chain ratio, sequencing of the Gγ promoter was carried out and revealed two nucleotide substitutions in cis: C→T at position -474 and A→G at position -309 from the Cap site...
2016: Acta Haematologica
https://www.readbyqxmd.com/read/27525524/a-genome-editing-strategy-to-treat-%C3%AE-hemoglobinopathies-that-recapitulates-a-mutation-associated-with-a-benign-genetic-condition
#19
Elizabeth A Traxler, Yu Yao, Yong-Dong Wang, Kaitly J Woodard, Ryo Kurita, Yukio Nakamura, Jim R Hughes, Ross C Hardison, Gerd A Blobel, Chunliang Li, Mitchell J Weiss
Disorders resulting from mutations in the hemoglobin subunit beta gene (HBB; which encodes β-globin), mainly sickle cell disease (SCD) and β-thalassemia, become symptomatic postnatally as fetal γ-globin expression from two paralogous genes, hemoglobin subunit gamma 1 (HBG1) and HBG2, decreases and adult β-globin expression increases, thereby shifting red blood cell (RBC) hemoglobin from the fetal (referred to as HbF or α2γ2) to adult (referred to as HbA or α2β2) form. These disorders are alleviated when postnatal expression of fetal γ-globin is maintained...
September 2016: Nature Medicine
https://www.readbyqxmd.com/read/27496376/correlation-of-multimodal-imaging-in-sickle-cell-retinopathy
#20
Khalil Ghasemi Falavarjani, Adrienne W Scott, Kang Wang, Ian C Han, Xuejing Chen, Michael Klufas, Jean-Pierre Hubschman, Steven D Schwartz, Srinivas R Sadda, David Sarraf, Irena Tsui
PURPOSE: To correlate macular findings on spectral domain optical coherence tomography (SDOCT) and optical coherence tomography angiography (OCTA) with quantitative ischemic index calculations on ultra-wide-field fluorescein angiography (UWFFA) in patients with sickle cell retinopathy. METHODS: In this retrospective case series, SDOCT, OCTA, and UWFFA images of patients with sickle cell retinopathy were evaluated. Eyes were staged based on the Goldberg classification of proliferative sickle cell retinopathy...
August 4, 2016: Retina
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