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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
Monika R Asnani, Kim R Quimby, Nadia R Bennett, Damian K Francis
BACKGROUND: Sickle cell disease is a group of genetic diseases which is especially prevalent in tropical and subtropical regions; however, forced migration and ongoing population movement have spread it throughout the world, with estimated birth rates reaching 0.49 per 1000 in the Americas, 0.07 per 1000 in Europe, 0.68 per 1000 in South and Southeast Asia, and 10.68 per 1000 in Africa. Life for individuals with sickle cell disease can be affected by repeated acute complications and compounded by progressive organ damage...
October 6, 2016: Cochrane Database of Systematic Reviews
Patrick Adu, David Larbi Simpong, Godfred Takyi, Richard K D Ephraim
Background. Blood transfusion is a therapeutic procedure usually undertaken in patients with severe anaemia. In Ghana, severe anaemia is mostly due to malaria caused by severe Plasmodium falciparum infection, road traffic accidents, and haemoglobinopathy-induced acute haemolysis. Method. This cross-sectional study evaluated coinheritance of sickle cell haemoglobin variant and G6PD enzymopathy among individuals that donated blood at the Holy Trinity Hospital, Berekum, in the Brong-Ahafo Region, Ghana. Demographic data and other pertinent information were captured using questionnaire...
2016: Advances in Hematology
Jennifer M Knight-Madden, Ian R Hambleton
BACKGROUND: Bronchodilators are used to treat bronchial hyper-responsiveness in asthma. Bronchial hyper-responsiveness may be a component of acute chest syndrome in people with sickle cell disease. Therefore, bronchodilators may be useful in the treatment of acute chest syndrome. This is an update of a previously published Cochrane Review. OBJECTIVES: To assess the benefits and risks associated with the use of bronchodilators in people with acute chest syndrome...
September 27, 2016: Cochrane Database of Systematic Reviews
Yan Chao, Zemin Wan, Xiaobin Wu, Feng Qiu, Xinzhong Wu, Yunxiu Wang, Peifeng Ke, Jianhua Xu, Junhua Zhuang, Xianzhang Huang
Haemoglobinopathies may interfere with the hemoglobin A1 c (HbA1 c) measurement, leading to incorrect diagnosis and inappropriate treatment. It is essential that HbA1 c assays are capable of identifying haemoglobinopathies. We report two cases of haemoglobin New York (HbNY) discovered through HbA1 c analysis using capillary electrophoresis (Capillarys 2 Flex Piercing [C2FP], Sebia). We used these samples to evaluate the ability of three other HbA1 c assays to identify this variant: ion-exchange high performance liquid chromatography (HPLC; Variant II Turbo [VII-T], Bio-Rad); boronate affinity HPLC (Ultra(2), Trinity Biotech); and immunoassay (cobas c501 Tina-quant Generation 3, Roche Diagnostics)...
September 13, 2016: Annals of Clinical Biochemistry
Alistair Robertson, Amin Rahemtulla
A young man with a rare unstable haemoglobinopathy presented with a high fever, worsening shortness of breath and abdominal pain. At triage his pulse oximetry (SpO2) suggested that his blood oxygen saturation was 84% at room air. However, an arterial blood gas (ABG) oxygen saturation reading (SaO2) was 100%. The significant disparity between the two measurements demonstrates that using pulse oximetry in some unstable haemoglobinopathies may significantly underestimate the actual reading. This error is most probably due to the structural differences in the variant haemoglobin causing light to be absorbed at a different wavelength beyond the normal range of the oximeter...
2016: BMJ Case Reports
Saeed Dastgiri, Roya Dolatkhah
BACKGROUND: Sickle cell disease is an inherited autosomal recessive blood condition and is one of the most prevalent genetic blood diseases worldwide. Acute chest syndrome is a frequent complication of sickle cell disease, as well as a major cause of morbidity and the greatest single cause of mortality in children with sickle cell disease. Standard treatment may include intravenous hydration, oxygen as treatment for hypoxia, antibiotics to treat the infectious cause and blood transfusions may be given...
2016: Cochrane Database of Systematic Reviews
Orly Lavee, Giselle Kidson-Gerber
BACKGROUND: Antenatal screening can predict clinically significant haemoglobinopathies, however in Australia, practices are not standardised and are evolving as the population becomes more ethnically diverse. This study describes antenatal screening practices in a large Australian laboratory/antenatal service. METHODS: Data were collected retrospectively on consecutive antenatal haemoglobin electrophoresis over 16 months and correlated with obstetric data, obtained from the local obstetric database...
December 2015: Obstetric Medicine
Arturo J Martí-Carvajal, Ivan Solà, Luis H Agreda-Pérez
BACKGROUND: Avascular necrosis of bone is a frequent and severe complication of sickle cell disease and its treatment is not standardised. This is an update of a previously published Cochrane Review. OBJECTIVES: To determine the impact of any surgical procedure compared with other surgical interventions or non-surgical procedures, on avascular necrosis of bone in people with sickle cell disease in terms of efficacy and safety. SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group Haemoglobinopathies Trials Register, comprising references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings...
2016: Cochrane Database of Systematic Reviews
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
Ramazan Azim Okyay, Özlem Çelenk, Ersin Nazlıcan, Muhsin Akbaba
The success of prevention programs demonstrated the importance of raising awareness about haemoglobinopathies since the lack of knowledge and awareness about the disorders may serve as barriers to prevention, disclosure of disease status as well as to testing for haemoglobinopathies. The aim of this study is to investigate the knowledge and attitudes of middle and high school students towards haemoglobinopathies in Hatay, where the disorders are prevalent. This cross-sectional study was conducted on 8th and 9th grade students across Hatay including all sub provinces...
2016: PloS One
Y Fichou, M Mariez, C Le Maréchal, C Férec
BACKGROUND: Patients suffering from haemoglobinopathies may be treated by red blood cell (RBC) transfusion on a regular basis and then exposed to multiple antigens with a recurrent, potential risk of alloimmunization routinely prevented by extended RBC antigen cross-matching. While time-consuming and labour-intensive serological analyses are the gold standard for RBC typing, genotyping by current high-throughput molecular tools, including next-generation sequencing (NGS), appears to offer a potent alternative...
July 21, 2016: Vox Sanguinis
Abdoul Karim Ouattara, Pouiré Yameogo, Birama Diarra, Dorcas Obiri-Yeboah, Albert Yonli, Tegwindé Rebeca Compaore, Serge Théophile Soubeiga, Florencia Wenkuuni Djigma, Jacques Simpore
The G-6-PD deficiency has an important polymorphism with genotypic variants such as 202A/376G, 376G/542T and 376G/968T known in West African populations. It would confer protection against severe forms of malaria although there are differences between the various associations in different studies. In this study we genotyped six (06) variants of the G-6-PD gene in people with symptomatic malaria in urban areas in Burkina Faso. One hundred and eighty-two (182) patients who tested positive using rapid detection test and microscopy were included in this study...
2016: Mediterranean Journal of Hematology and Infectious Diseases
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
P Olowoyo, M O Owolabi, B Fawale, A Ogunniyi
BACKGROUND: Most (86%) of the global stroke mortality are from low- and middle-income countries (LMIC) including African countries which have the highest prevalence of the sickle cell trait (Hb AS). The effects of this trait on stroke occurrence and outcome are poorly understood. We aimed to investigate the effects of the sickle cell trait on the 30-day stroke mortality in Nigerian-Africans. METHOD: This was a prospective study of 35 stroke patients with sickle cell trait (Haemoglobin AS) and 35 age and sex-matched controls without haemoglobinopathy (Haemoglobin AA)...
June 2016: ENeurologicalSci
Rabia Ghafoor, Muhammad Irfan Anwar
No abstract text is available yet for this article.
June 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Kevon Parmesar, Kavita Raj
Haematopoietic stem cell transplantation is a well-established treatment option for both hematological malignancies and nonmalignant conditions such as aplastic anemia and haemoglobinopathies. For those patients lacking a suitable matched sibling or matched unrelated donor, haploidentical donors are an alternative expedient donor pool. Historically, haploidentical transplantation led to high rates of graft rejection and GVHD. Strategies to circumvent these issues include T cell depletion and management of complications thereof or T replete transplants with GVHD prophylaxis...
2016: Advances in Hematology
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
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