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thalassaemia, haemoglobinopathies

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https://www.readbyqxmd.com/read/28218017/molecular-and-clinical-analysis-of-haemoglobin-lepore-in-campania-a-region-of-southern-italy
#1
Paolo Ricchi, Massimiliano Ammirabile, Anna Spasiano, Silvia Costantini, Tiziana Di Matola, Patrizia Cinque, Caterina Saporito, Aldo Filosa, Leonilde Pagano
OBJECTIVE: To date in Italy, there is paucity on data about the prevalence, clinical and haematological features of patients carrying the haemoglobin (Hb) Lepore variant in homozygous or in association with other haemoglobinopathies. METHODS: Here we report the results of a retrospective analysis on 33 patients from Campania, a region of Southern Italy, historically followed at 'UOSD Malattie Rare del Globulo Rosso' of Cardarelli hospital, Naples, Italy. RESULTS: We described 33 patients carrying the Hb Lepore variant: 21 compound heterozygotes with a common thalassaemia allele, six patients with homozygous state for Hb Lepore, five patients with Hb Lepore/Hb S and one patient with Hb Lepore/Hb Neapolis were identified...
February 20, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28208888/haemoglobinopathies-and-%C3%AE-thalassaemia-among-the-tribals-working-in-the-tea-gardens-of-assam-india
#2
Anju Barhai Teli, Rumi Deori, Sidhartha Protim Saikia
INTRODUCTION: Prevalence of haemoglobinopathies and β-thalassaemia are very high in India but information about its status among the tribals working in the tea gardens of Assam is very less. AIM: The present study was carried out to determine the prevalence of haemoglobinopathies and β-thalassaemia among the tribals working in the tea gardens of Assam. MATERIALS AND METHODS: A total 1204 samples from the tribals working in tea gardens of Assam were analysed for both Complete Blood Count (CBC) and High Pressure Liquid Chromatography (HPLC) for detection of haemoglobinopathies and β-thalassaemia...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28105733/vitamin-d-supplementation-for-sickle-cell-disease
#3
REVIEW
Htoo Htoo Kyaw Soe, Adinegara Bl Abas, Nan Nitra Than, Han Ni, Jaspal Singh, Abdul Razzak Bin Mohd Said, Ifeyinwa Osunkwo
BACKGROUND: Sickle cell disease is a genetic chronic haemolytic and pro-inflammatory disorder. The clinical manifestations of sickle cell disease result from the presence of mutations on the beta globin genes that generate an abnormal haemoglobin product (called haemoglobin S) within the red blood cell. Sickle cell disease can lead to many complications such as acute chest syndrome, stroke, acute and chronic bone complications (including painful vaso-occlusive crisis, osteomyelitis, osteonecrosis and osteoporosis)...
January 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28097791/alpha-thalassaemia-promotes-frequent-vaso-occlusive-crises-in-children-with-sickle-cell-anaemia-through-haemorheological-changes
#4
Céline Renoux, Philippe Connes, Elie Nader, Sarah Skinner, Camille Faes, Marie Petras, Yves Bertrand, Nathalie Garnier, Daniela Cuzzubbo, Lydia Divialle-Doumdo, Kamila Kebaïli, Cécile Renard, Alexandra Gauthier, Maryse Etienne-Julan, Giovanna Cannas, Cyril Martin, Marie-Dominique Hardy-Dessources, Vincent Pialoux, Marc Romana, Philippe Joly
BACKGROUND: Sickle cell anaemia (SCA) is a severe hereditary haemoglobinopathy characterised by haemorheological abnormalities, which play a role in the occurrence of several acute and chronic clinical complications. While β(S) -haplotypes and alpha-thalassaemia modulate SCA clinical severity, their effects on blood rheology have been incompletely described. The aim of this study was to test the effects of these genetic modifiers on the haemorheological properties and clinical complication of children with SCA...
January 18, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27989690/comparing-the-efficacy-of-tadalafil-versus-placebo-on-pulmonary-artery-systolic-pressure-and-right-ventricular-function-in-patients-with-beta-thalassaemia-intermedia
#5
Rozita Jalalian, Ali Akbar Moghadamnia, Ahmad Tamaddoni, Soraya Khafri, Mohammadreza Iranian
BACKGROUND: Conventional oral therapies in the management of pulmonary hypertension in people without haemoglobinopathies are of limited value in thalassaemia patients because of toxicity and poor effectiveness. This study was conducted to assess the effect of tadalafil on pulmonary artery pressure and right ventricular systolic function in patients with beta-thalassaemia intermedia. METHODS: Forty-four patients with beta-thalassaemia intermedia with pulmonary hypertension based on transthoracic echocardiography (TTE) were entered in the study...
December 2, 2016: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/27900772/hematopoietic-stem-cell-transplantation-for-people-with-%C3%A3-thalassaemia-major
#6
REVIEW
Vanitha A Jagannath, Zbys Fedorowicz, Amani Al Hajeri, Akshay Sharma
BACKGROUND: Thalassemia is an inherited autosomal recessive blood disorder, caused by mutations in globin genes or their regulatory regions. This results in a reduced rate of synthesis of one of the globin chains that make up haemoglobin. In ß-thalassaemia major there is an underproduction of ß-globin chains combined with excess of free α-globin chains. The excess free α-globin chains precipitate in red blood cells, leading to their destruction (haemolysis) and ineffective erythropoiesis...
November 30, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27890718/thalassaemia-screening-and-confirmation-of-carriers-in-parents
#7
REVIEW
Angela N Barrett, Ramasamy Saminathan, Mahesh Choolani
Haemoglobinopathies are among the most common inherited monogenic disorders worldwide. Thalassaemia screening for carrier status is recommended for adults of reproductive age if suspected of being at risk. Conventional laboratory methods for screening include the assessment of haematological indices, and high-performance liquid chromatography, capillary electrophoresis or isoelectric focusing to measure the levels of HbA2 and HbF, and to identify haemoglobin variants. Each screening method has its advantages and disadvantages, the main disadvantage being that none can fully resolve all variants...
February 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27820943/crispr-cas9-%C3%AE-globin-gene-targeting-in-human-haematopoietic-stem-cells
#8
Daniel P Dever, Rasmus O Bak, Andreas Reinisch, Joab Camarena, Gabriel Washington, Carmencita E Nicolas, Mara Pavel-Dinu, Nivi Saxena, Alec B Wilkens, Sruthi Mantri, Nobuko Uchida, Ayal Hendel, Anupama Narla, Ravindra Majeti, Kenneth I Weinberg, Matthew H Porteus
The β-haemoglobinopathies, such as sickle cell disease and β-thalassaemia, are caused by mutations in the β-globin (HBB) gene and affect millions of people worldwide. Ex vivo gene correction in patient-derived haematopoietic stem cells followed by autologous transplantation could be used to cure β-haemoglobinopathies. Here we present a CRISPR/Cas9 gene-editing system that combines Cas9 ribonucleoproteins and adeno-associated viral vector delivery of a homologous donor to achieve homologous recombination at the HBB gene in haematopoietic stem cells...
November 17, 2016: Nature
https://www.readbyqxmd.com/read/27755646/hydroxyurea-for-reducing-blood-transfusion-in-non-transfusion-dependent-beta-thalassaemias
#9
REVIEW
Wai Cheng Foong, Jacqueline J Ho, C Khai Loh, Vip Viprakasit
BACKGROUND: Non-transfusion dependent beta thalassaemia is a subset of inherited haemoglobin disorders characterised by reduced production of the beta globin chain of the haemoglobin molecule leading to anaemia of varying severity. Although blood transfusion is not a necessity for survival, it is required when episodes of chronic anaemia occur. This chronic anaemia can impair growth and affect quality of life. People with non-transfusion dependent beta thalassaemia suffer from iron overload due to their body's increased capability of absorbing iron from food sources...
October 18, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27461962/delta-globin-gene-variations-leading-to-reduction-in-hba2-levels
#10
P Hariharan, S Colaco, R Colah, K Ghosh, A Nadkarni
INTRODUCTION: Mutations in the δ-globin gene are not pathogenically relevant, but co-inheritance of δ-globin variants along with β-globin gene defects can mask the diagnosis of β-thalassaemia trait. METHODS: Routine haematological parameters were carried out. Molecular analysis of β-globin gene mutations was carried out by CRDB, ARMS and DNA sequencing. δ- globin gene analysis was carried out by DNA sequencing. RESULTS: In this case study, we report a β-thalassaemia trait (IVS 1-5G→C) (HBB:c...
December 2016: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/27387985/haemoglobinopathies-that-occur-with-decreased-hba2-levels-a-gene-mutation-set-involving-the-%C3%AE-gene-at-a-spanish-centre
#11
Ana Villegas, Fernando Ataúlfo González, Jorge M Nieto, Félix de la Fuente-Gonzalo, Rafael Martínez, María Josefa Torrejón, Paloma Ropero
AIMS: Haemoglobin A2 (HbA2) consists of two globin chains, α and β. Alterations in any of these genes influences the level of HbA2. Here, we present cases of structural Hb variants and thalassaemias which present either alone or together and reduce the level of HbA2 at varying degrees. Furthermore, we present a novel structural mutation in the δ globin gene, called Hb A2-Madrid. METHODS: The levels of HbA2 and HbF and the different haemoglobin variants were measured and analysed by ion exchange high performance liquid chromatography (HPLC, VARIANT II), the types of haemoglobins were determined by capillary zone electrophoresis (CZE) (Sebia) and the globin chains were determined by reversed-phase HPLC...
January 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27377501/association-of-bcl11a-genetic-variant-rs11886868-with-severity-in-%C3%AE-thalassaemia-major-sickle-cell-anaemia
#12
Sneha Dadheech, D Madhulatha, Suman Jainc, James Joseph, A Jyothy, Anjana Munshi
BACKGROUND & OBJECTIVES: The amount of foetal haemoglobin that persists in adulthood affects the clinical severity of haemoglobinopathies including β-thalassaemia major and sickle cell anaemia (SCA). The present study was undertaken to analyse β-thalassaemia as well as SCA patients for the single nucleotide polymorphism (SNP), rs11886868 (T/C) in BCL11A gene and to evaluate the association between this polymorphism and severity of β-thalassaemia major and SCA. METHODS: a total of 620 samples (420 β-thalassaemia major and 200 SCA cases) were analysed before blood transfusion using basic screening tests like complete blood analysis and osmotic fragility and further confirmed by high performance liquid chromatography (HPLC), amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and reverse dot blot techniques...
April 2016: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/27312111/screening-of-sea-%C3%AE-thalassaemia-using-an-immunochromatographic-strip-assay-for-the-%C3%AE-globin-chain-in-a-population-with-a-high-prevalence-and-heterogeneity-of-haemoglobinopathies
#13
Wittaya Jomoui, Goonnapa Fucharoen, Kanokwan Sanchaisuriya, Supan Fucharoen
AIMS: The presence of the ζ-globin chain is a good marker of (--(SEA)) α(0)-thalassaemia. We evaluated an immunochromatographic (IC) strip assay for ζ-globin in screening for (--(SEA)) α(0)-thalassaemia in a population with a high prevalence and heterogeneity of haemoglobinopathies. METHODS: The study was carried out on 300 screen positive blood samples of Thai individuals. The IC strip assay for the ζ-globin chain was performed on all samples. The results were interpreted with thalassaemia genotyping using standard haemoglobin and DNA analyses...
January 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27296775/splenectomy-for-people-with-thalassaemia-major-or-intermedia
#14
REVIEW
Manu Easow Mathew, Akshay Sharma, Rajeev Aravindakshan
BACKGROUND: Thalassaemia is a genetic disease of the haemoglobin protein in red blood cells. It is classified into thalassaemia minor, intermedia and major, depending on the severity of the disease and the genetic defect. Thalassaemia major and intermedia require frequent blood transfusions to compensate for the lack of well-functioning red blood cells, although this need is significantly less in thalassaemia intermedia.Damaged or defective red blood cells are normally eliminated in the spleen...
2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27199182/the-molecular-spectrum-and-distribution-of-haemoglobinopathies-in-cyprus-a-20-year-retrospective-study
#15
Petros Kountouris, Ioanna Kousiappa, Thessalia Papasavva, George Christopoulos, Eleni Pavlou, Miranda Petrou, Xenia Feleki, Eleni Karitzie, Marios Phylactides, Pavlos Fanis, Carsten W Lederer, Andreani R Kyrri, Eleni Kalogerou, Christiana Makariou, Christiana Ioannou, Loukas Kythreotis, Georgia Hadjilambi, Nicoletta Andreou, Evangelia Pangalou, Irene Savvidou, Michael Angastiniotis, Michael Hadjigavriel, Maria Sitarou, Annita Kolnagou, Marina Kleanthous, Soteroula Christou
Haemoglobinopathies are the most common monogenic diseases, posing a major public health challenge worldwide. Cyprus has one the highest prevalences of thalassaemia in the world and has been the first country to introduce a successful population-wide prevention programme, based on premarital screening. In this study, we report the most significant and comprehensive update on the status of haemoglobinopathies in Cyprus for at least two decades. First, we identified and analysed all known 592 β-thalassaemia patients and 595 Hb H disease patients in Cyprus...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27031395/antenatal-haemoglobinopathy-screening-in-australia
#16
Yi Ling Tan, Giselle Kidson-Gerber
Haemoglobinopathy screening should be performed in women with microcytic indices, women from high risk ethnic populations and those with unexplained anaemia. Early testing of women and their partners expedites appropriate management prior to and during pregnancy. Haemoglobinopathy screening is a multistep process beginning with a full blood count, ferritin assay, screening tests for haemoglobinopathies (ie, haemoglobin electrophoresis, high performance liquid chromatography, capillary electrophoresis) and assessment of clinical risk...
April 4, 2016: Medical Journal of Australia
https://www.readbyqxmd.com/read/27018056/haemoglobinopathies-and-the-rheumatologist
#17
REVIEW
Michael Hughes, Qasim Akram, David C Rees, Anthony Kenneth Peter Jones
The haemoglobinopathies are a relatively common, heterogeneous group of inherited conditions that are the result of either a quantitative abnormality (e.g. thalassaemia) or structural [e.g. sickle cell anaemia (SCA)] of the globin part of the haemoglobin molecule. Musculoskeletal (MSK) complications are common in patients with haemoglobinopathies and may affect the whole of the MSK system, in addition to bone, which is the primary site of the disease. Typical MSK complications include painful vaso-occlusive disease and osteomyelitis in SCA and reduced BMD in thalassaemia...
December 2016: Rheumatology
https://www.readbyqxmd.com/read/26987879/pulmonary-endarterectomy-is-effective-and-safe-in-patients-with-haemoglobinopathies-and-abnormal-red-blood-cells-the-papworth-experience
#18
Balakrishnan Mahesh, Martin Besser, Antonio Ravaglioli, Joanna Pepke-Zaba, Guillermo Martinez, Andrew Klein, Choo Ng, Steven Tsui, John Dunning, David P Jenkins
OBJECTIVES: Patients with haemoglobinopathies and congenital haemolytic anaemia constitute a unique population more predisposed to developing chronic thromboembolic pulmonary hypertension (CTEPH). Although pulmonary endarterectomy (PEA) is accepted as the best treatment for CTEPH, PEA in these patients poses significant practical challenges. Apart from a few case reports, the results of PEA in this patient population have not been previously reported. The aim of this study was to review the outcome of PEA in this patient population...
September 2016: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/26964506/treatment-for-osteoporosis-in-people-with-%C3%A3-thalassaemia
#19
REVIEW
Amit Bhardwaj, Kye Mon Min Swe, Nirmal K Sinha, Ifeyinwa Osunkwo
BACKGROUND: Osteoporosis is a systemic skeletal disease characterized by low bone mass and micro-architectural deterioration of bone tissue with a consequent increase in bone fragility and susceptibility to fracture. Osteoporosis represents an important cause of morbidity in people with beta-thalassaemia and its pathogenesis is multifactorial. Factors include bone marrow expansion due to ineffective erythropoiesis, resulting in reduced trabecular bone tissue with cortical thinning; endocrine dysfunction secondary to excessive iron loading, leading to increased bone turnover; and lastly, a predisposition to physical inactivity due to disease complications with a subsequent reduction in optimal bone mineralization...
March 10, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/26915371/laboratory-parameters-provided-by-advia-2120-analyser-identify-structural-haemoglobinopathy-carriers-and-discriminate-between-hb-s-trait-and-hb-c-trait
#20
Diego Velasco-Rodríguez, Juan-Manuel Alonso-Domínguez, Fernando-Ataúlfo González-Fernández, Alfonso Muriel, Lorena Abalo, María Sopeña, Jesús Villarrubia, Paloma Ropero, María Paz Plaza, María Tenorio, Ana Jiménez-Martín, Gemma Moreno, Jorge Martínez-Nieto, Félix de la Fuente-Gonzalo, Marina Fernández-Escribano, Francisco Javier López-Jiménez, Fernando Cava
BACKGROUND: Haemoglobinopathies have spread owing to human migration, and the number of people needing diagnosis and management of these conditions is increasing. Clinicians need to accurately identify carriers and provide adequate genetic counselling in order to prevent the occurrence of homozygous or compound heterozygous offspring. OBJECTIVES: To identify red blood cell (RBC) laboratory parameters that discriminate between structural haemoglobinopathy carriers and healthy subjects, and to compare RBC laboratory indices between HbAS and HbAC individuals...
October 2016: Journal of Clinical Pathology
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