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thalassaemia, haemoglobinopathies

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...
July 27, 2016: International Journal of Laboratory Hematology
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...
July 7, 2016: Journal of Clinical Pathology
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
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...
June 16, 2016: Journal of Clinical Pathology
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
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
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
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...
March 27, 2016: Rheumatology
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
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...
2016: Cochrane Database of Systematic Reviews
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
Hafiza Alauddin, Suziana Mohamad Nasir, Madzlifah Ahadon, Raja Zahratul Azma Raja Sabudin, Azlin Ithnin, Noor Hamidah Hussin, Hamidah Alias, C-Khai Loh, Zarina Abdul Latiff, Nor Azian Abdul Murad, Ainoon Othman
Haemoglobin (Hb) Lepore is a variant Hb consisting of two α-globin and two δβ-globin chains. In a heterozygote, it is associated with clinical findings of thalassaemia minor, but interactions with other haemoglobinopathies can lead to various clinical phenotypes and pose diagnostic challenges. We reported a pair of siblings from a Malay family, who presented with pallor and hepatosplenomegaly at the ages of 21 months and 14 months old. The red cell indices and peripheral blood smears of both patients showed features of thalassaemia intermedia...
December 2015: Malaysian Journal of Pathology
Harish Narayanan, Ken Cheng, Ken Lau, Radhika Harish, Donald K Bowden
Development of an acquired systemic elastopathy resembling pseudoxanthoma elasticum in patients with chronic haemoglobinopathies such as beta thalassaemia major and sickle cell disease is well documented. There is paucity of any comprehensive literature on the radiological manifestations of this entity. This pictorial review aims to describe and illustrate the multi system and multi modality imaging findings of this condition.
February 2016: Journal of Medical Imaging and Radiation Oncology
Concetta Fragomeno, Emilio Roccabruna, Domenico Giuseppe D'Ascola
BACKGROUND: Patients with haematopoietic disorders requiring long-term blood transfusions are at risk of iron overload. This study aimed to investigate the efficacy and safety of long-term deferasirox monotherapy in patients with transfusion-dependent anaemia in the routine clinical practice setting. METHODS: This was a retrospective analysis of patients who commenced deferasirox therapy at the Hospital Bianchi Melacrino Morelli in Reggio Calabria, Italy. Data collected included cardiac and hepatic iron load (assessed by magnetic resonance imaging); left ventricular ejection fraction (LVEF)...
December 2015: Blood Cells, Molecules & Diseases
Rittu Surjit Chandel, Abhishek Roy, Leela Gul Abichandani
Haemoglobin D is a rare form of haemoglobinopathy in homozygous form. However, the heterozygous form of the disease is clinically silent and relatively easier to find in North-West India, Pakistan and Iran. Haemoglobin D is sometimes found to be coexistent with Haemoglobin S and/or Thalassaemia leading to clinically significant conditions like sickle cell anaemia with mild to moderate splenomegaly. In India the more prevalent form is Haemoglobin D-Punjab (also known as Hb D- Los Angeles) which has a prevalence of 2% in Punjab and around 1% in Gujarat...
July 2015: Journal of Clinical and Diagnostic Research: JCDR
S Voskou, M Aslan, P Fanis, M Phylactides, M Kleanthous
Sickle cell disease and β-thalassaemia are inherited haemoglobinopathies resulting in structural and quantitative changes in the β-globin chain. These changes lead to instability of the generated haemoglobin or to globin chain imbalance, which in turn impact the oxidative environment both intracellularly and extracellularly. The ensuing oxidative stress and the inability of the body to adequately overcome it are, to a large extent, responsible for the pathophysiology of these diseases. This article provides an overview of the main players and control mechanisms involved in the establishment of oxidative stress in these haemoglobinopathies...
December 2015: Redox Biology
Antonella Isgrò, Katia Paciaroni, Javid Gaziev, Pietro Sodani, Cristiano Gallucci, Marco Marziali, Gioia De Angelis, Cecilia Alfieri, Michela Ribersani, Andrea Roveda, Olufemi O Akinyanju, T Thompson Wakama, Festus Olusola Olowoselu, Adewumi Adediran, Guido Lucarelli
BACKGROUND: Sickle cell anaemia (SCA) remains associated with high risks of morbidity and early death. Children with SCA are at high risk for ischaemic stroke and transient ischaemic attacks, secondary to intracranial arteriopathy involving carotid and cerebral arteries. Allogeneic haematopoietic stem cell transplantation (HSCT) is the only curative treatment for SCA. We report our experience with transplantation in a group of patients with the Black African variant of SCA. PATIENTS AND METHODS: This study included 31 consecutive SCA patients who underwent bone marrow transplantation from human leukocyte antigen (HLA)-identical sibling donors between 2010 and 2014 following a myeloablative-conditioning regimen...
May 2015: Nigerian Medical Journal: Journal of the Nigeria Medical Association
Kanjaksha Ghosh, Roshan B Colah, Malay B Mukherjee
Haemoglobinopathies particularly haemoglobin S and E (HbS, HbE) and β-thalassaemia are important challenges for tribal populations in India. The HbS, HbE and β-thalassaemia genes are variably distributed across various tribal populations of India. HbE is mainly restricted in tribals of North-East, West Bengal, Odisha and those in Andaman and Nicobar islands. HbS has more extensive distribution in the country (10-40% trait frequency) and the homozygotes and double heterozygotes present with a wide array of morbidities...
May 2015: Indian Journal of Medical Research
Sujal Ghosh, Adrian J Thrasher, H Bobby Gaspar
Ex-vivo gene transfer of autologous haematopoietic stem cells in patients with monogenic diseases of the bone marrow has emerged as a new therapeutic approach, mainly in patients lacking a suitable donor for transplant. The encouraging results of initial clinical trials of gene therapy for primary immunodeficiencies were tempered by the occurrence of genotoxicity in a number of patients. Over the last decade, safer viral vectors have been developed to overcome the risk of insertional mutagenesis and have led to impressive clinical outcomes with considerably improved safety...
June 5, 2015: British Journal of Haematology
Sophie Alice Müller, Stephen Kow Baako Amoah, Stefanie Meese, Joachim Spranger, Frank P Mockenhaupt
OBJECTIVES: Haematological parameters differ between individuals of African and European ancestry. However, respective data of first-generation African migrants are virtually absent. We assessed these in Ghanaian migrants living in Berlin, compared them to reference data from Germany and Ghana, and estimated the role of iron deficiency (ID) and erythrocyte polymorphisms in anaemia. METHODS: 576 Ghanaians (median age, 45 years) were analysed. Blood counts were performed, haemoglobinopathies and glucose-6-phosphate dehydrogenase (G6PD) deficiency were genotyped, and concentrations of ferritin and C-reactive protein were measured to define ID...
May 5, 2015: Tropical Medicine & International Health: TM & IH
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