keyword
https://read.qxmd.com/read/37873846/a-newborn-screening-program-for-sickle-cell-disease-in-murcia-spain
#1
JOURNAL ARTICLE
María Sánchez-Villalobos, Eulalia Campos Baños, María Jesús Juan Fita, José María Egea Mellado, Inmaculada Gonzalez Gallego, Asunción Beltrán Videla, Mercedes Berenguer Piqueras, Mar Bermúdez Cortés, José María Moraleda Jiménez, Encarna Guillen Navarro, Eduardo Salido Fierrez, Ana B Pérez-Oliva
Sickle cell disease (SCD) is an inherited autosomal recessive hemoglobin disorder caused by the presence of hemoglobin S, a mutant abnormal hemoglobin caused by a nucleotide change in codon 6 of the β-globin chain gene. SCD involves a chronic inflammatory state, exacerbated during vaso-occlusive crises, which leads to end-organ damage that occurs throughout the lifespan. SCD is associated with premature mortality in the first years of life. The process of sickling provokes asplenia in the first years of life with an increased risk of infection by encapsulated germs...
October 10, 2023: International Journal of Neonatal Screening
https://read.qxmd.com/read/37584425/f-cells-promote-plasmodium-falciparum-proliferation-in-sickle-cell-disease
#2
JOURNAL ARTICLE
Natasha M Archer, Bénédicte Gnangnon, Mahmoud Mikdar, Marioara F Ciuculescu, Nicole Petersen, Steven J Staffa, Manoj T Duraisingh
BACKGROUND: Sickle cell disease (SCD) remains prevalent because heterozygous carriers (HbAS) are partially resistant to Plasmodium falciparum malaria. Sickle hemoglobin (HbS) polymerization in low and intermediate oxygen (O2 ) conditions is the main driver of HbAS-driven resistance to P. falciparum malaria. However, epidemiological studies have reported mixed malaria morbidity and mortality outcomes in individuals with sickle cell disease (SCD). While maximum-tolerated dose hydroxyurea has been shown to lower malaria incidence, fetal hemoglobin (HbF), an inhibitor of HbS polymerization that is variably packaged in F-cells, might provide hemoglobin that is accessible to the parasite for feeding...
August 16, 2023: American Journal of Hematology
https://read.qxmd.com/read/35885667/a-simple-cost-effective-and-extraction-free-molecular-diagnostic-test-for-sickle-cell-disease-using-a-noninvasive-buccal-swab-specimen-for-a-limited-resource-setting
#3
JOURNAL ARTICLE
Priya Thakur, Pragya Gupta, Nupur Bhargava, Rajat Soni, Narendra Varma Gottumukkala, Sangam Giri Goswami, Gaurav Kharya, Vinodh Saravanakumar, Padma Gunda, Suman Jain, Jasmita Dass, Mukul Aggarwal, Sivaprakash Ramalingam
Sickle cell disease (SCD) is the most prevalent life-threatening blood monogenic disorder. Currently, there is no cure available, apart from bone marrow transplantation. Early and efficient diagnosis of SCD is key to disease management, which would make considerable strides in alleviating morbidity and reducing mortality. However, the cost and complexity of diagnostic procedures, such as the Sanger sequencing method, impede the early detection of SCD in a resource-limited setting. To address this, the current study demonstrates a simple and efficient proof-of-concept assay for the detection of patients and carriers using extraction-free non-invasive buccal swab samples by isothermal DNA Amplification coupled Restrictase-mediated cleavage (iDAR)...
July 21, 2022: Diagnostics
https://read.qxmd.com/read/35047260/preimplantation-genetic-testing-a-perceptual-study-from-the-eastern-province-saudi-arabia
#4
JOURNAL ARTICLE
Fehmida Tehsin, Fatimah H Almutawah, Hawra K Almutawah, Maryam E Alwabari, Zahra M AlSultan, Hassan S Buawadh
BACKGROUND: Chromosomal abnormalities affect many children which lead to high rates of morbidity and mortality among them. So, preimplantation genetic testing (PGT) is an evolving technology used to detect a specific genetic disorder in embryos of a couple known to be carriers or affected by a specific mutation. Similarly, it could be used in advanced maternal age which is a high risk of chromosomal abnormalities. Although PGT is a solution for many inherited chromosomal disorders, many ethical dilemmas surround its application...
December 2021: Curēus
https://read.qxmd.com/read/34483044/challenging-the-dogma-of-the-healthy-heterozygote-implications-for-newborn-screening-policies-and-practices
#5
REVIEW
Philip M Farrell, Elinor Langfelder-Schwind, Michael H Farrell
Heterozygous (carrier) status for an autosomal recessive condition is traditionally considered to lack significance for an individual's health, but this assumption has been challenged by a growing body of evidence. Carriers of several autosomal recessive disorders and some X-linked diseases are potentially at risk for the pathology manifest in homozygotes. This minireview provides an overview of the literature regarding health risks to carriers of two common autosomal recessive conditions on the Recommended Uniform Screening Panel: sickle cell disease [sickle cell trait (SCT)] and cystic fibrosis (CF)...
2021: Molecular Genetics and Metabolism
https://read.qxmd.com/read/32777927/acute-compartment-syndrome-in-a-patient-with-sickle-cell-disease
#6
JOURNAL ARTICLE
E Cochrane, S Young, Z Shariff
Haemoglobin SC (HbSC) disease accounts for 30% of cases of sickle cell disease in the United Kingdom and the United States. Unlike other sickle cell carriers, who are relatively asymptomatic, people with HbSC disease have a combination of genotypes with the potential to cause considerable morbidity due to intracellular water loss. Patients can present with acute pain, acute chest syndrome, proliferative retinopathy, splenic and renal complications, or stroke. We present a young man with HbSC disease who developed acute compartment syndrome...
August 11, 2020: Annals of the Royal College of Surgeons of England
https://read.qxmd.com/read/32201151/how-to-setup-a-successful-transplant-program-for-hemoglobinopathies-in-developing-countries-the-cure2children-approach
#7
REVIEW
Lawrence Faulkner
Hematopoietic stem cell transplantation (HSCT) remains the only established definitive cure for severe hemoglobinopathies, such as sickle cell disease (SCD) and thalassemia-the most prevalent life-threatening non-communicable disease of childhood globally. HSCT can not only cure over 85% of children with a compatible sibling but also restore normal health-related quality of life in most cases who do not have major irreversible organ damage at transplant. In low- and middle-income countries (LMICs), particularly in sub-Saharan Africa, SCD carrier rate can be up to 30% and 1% of live births have SCD...
March 16, 2020: Hematology/oncology and Stem Cell Therapy
https://read.qxmd.com/read/31700592/curing-hemoglobinopathies-challenges-and-advances-of-conventional-and-new-gene-therapy-approaches
#8
REVIEW
Irene Motta, Valentina Ghiaccio, Andrea Cosentino, Laura Breda
Inherited hemoglobin disorders, including beta-thalassemia (BT) and sickle-cell disease (SCD), are the most common monogenic diseases worldwide, with a global carrier frequency of over 5%.1 With migration, they are becoming more common worldwide, making their management and care an increasing concern for health care systems. BT is characterized by an imbalance in the α/β-globin chain ratio, ineffective erythropoiesis, chronic hemolytic anemia, and compensatory hemopoietic expansion.1 Globally, there are over 25,000 births each year with transfusion-dependent thalassemia (TDT)...
2019: Mediterranean Journal of Hematology and Infectious Diseases
https://read.qxmd.com/read/30908604/a-toll-like-receptor-2-genetic-variant-modulates-occurrence-of-bacterial-infections-in-patients-with-sickle-cell-disease
#9
JOURNAL ARTICLE
Karina Tozatto-Maio, Robert Girot, Indou D Ly, Vanderson Rocha, Ana C Silva Pinto, Ibrahima Diagne, Yahia Benzerara, Carla L Dinardo, Simone Kashima, Itauá Leston-Araujo, Chantal Kenzey, Guilherme H H Fonseca, Evandra S Rodrigues, Fernanda Volt, Luciana R Jarduli, Annalisa Ruggeri, Christina M Mariaselvam, Sandra F M Gualandro, Hanadi Elayoubi, Renato Cunha, Barbara Cappelli, Kelen C R Malmegrim, Belinda P Simões, Eliane Gluckman, Ryad Tamouza
Despite adequate immunization and penicillin prophylaxis, bacterial infections remain a leading cause of morbidity and mortality in patients with sickle cell disease (SCD). Besides hyposplenism, inflammatory and genetic factors might modulate their susceptibility to bacterial infections. We performed a candidate gene association of single nucleotide polymorphisms (SNPs) located in Toll-like receptor (TLR) genes, encoding prominent molecules for innate immune responses, with the occurrence of bacterial infections in patients with SCD...
March 25, 2019: British Journal of Haematology
https://read.qxmd.com/read/30868020/unprepared-and-misinformed-parents-of-children-with-sickle-cell-disease-time-to-rethink-awareness-campaigns
#10
JOURNAL ARTICLE
Seyi Aderotoye-Oni, Ijeoma N Diaku-Akinwumi, Adeyinka Adeniran, Bode Falase
Worldwide, sickle cell disease (SCD) poses a significant public health concern. It causes recurrent morbidity, and premature death is a distinct possibility, especially in Nigeria, which bears half the world's burden of SCD patients. Nigeria has yet to establish a newborn screening program; consequently, most affected children are diagnosed between one and three years of age when a health problem arises. Parents are unprepared to identify SCD and seek comprehensive management early enough for the best outcome...
December 31, 2018: Curēus
https://read.qxmd.com/read/30773433/hemotypesc-a-low-cost-point-of-care-testing-device-for-sickle-cell-disease-promises-and-challenges
#11
MULTICENTER STUDY
Obiageli Nnodu, Hezekiah Isa, Maxwell Nwegbu, Chinatu Ohiaeri, Samuel Adegoke, Reuben Chianumba, Ngozi Ugwu, Biobele Brown, John Olaniyi, Emmanuel Okocha, Juliet Lawson, Abdul-Aziz Hassan, Ijeoma Diaku-Akinwumi, Anazoeze Madu, Osita Ezenwosu, Yohanna Tanko, Umar Kangiwa, Ahmed Girei, Yetunde Israel-Aina, Adama Ladu, Perpetua Egbuzu, Usman Abjah, Angela Okolo, Nagihan Akbulut-Jeradi, Maria Fernandez, Frédéric B Piel, Adekunle Adekile
BACKGROUND: Sickle cell disease (SCD) is a neglected burden of growing importance. >312,000 births are affected annually by sickle cell anaemia (SCA). Early interventions such as newborn screening, penicillin prophylaxis and hydroxyurea can substantially reduce the mortality and morbidity associated with SCD. Nevertheless, their implementation in African countries has been mostly limited to pilot projects. Recent development of low-cost point-of-care testing (POCT) devices for sickle haemoglobin (HbS) could greatly facilitate the diagnosis of those affected...
September 2019: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/30283756/experiences-and-problems-encountered-by-families-of-children-with-sickle-cell-anemia
#12
JOURNAL ARTICLE
Gülendam Karadağ, Zeynep Güngörmüş, Zeynep Olçar
Introduction: Sickle Cell Anemia is a disease that has a high level of morbidity and early mortality for patients that are not followed and controlled properly. Study was conducted the aim of determining experiences and problems of families whose children with sickle cell anemia. Methods: Descriptive study was conducted the aim of determining experiences and problems of families (n= 206) whose children with sickle cell anemia. Before conducting this study, a written permission from the related institution and research ethics committee approval from Gaziantep University were obtained...
September 2018: Journal of Caring Sciences
https://read.qxmd.com/read/29978033/splenic-syndrome-in-a-young-man-at-high-altitude-with-undetected-sickle-cell-trait
#13
JOURNAL ARTICLE
Chka Fernando, S Mendis, A P Upasena, Y J Costa, H S Williams, D Moratuwagama
Introduction: Splenic syndrome is a rare presentation of sickle cell disease. It is important to rule out this possibility when an ethnically vulnerable patient presents with an acute abdominal symptoms in a background of precipitating events. Case Report: A 26-year-old man who developed a severe abdominal pain at high altitude, found to have a tender splenomegaly. However, further inquiry revealed he is from an area where sickle cell disease is prevalent. Screening for sickle cell disease was positive...
June 2018: Journal of Patient Experience
https://read.qxmd.com/read/29345446/the-first-south-american-case-of-pre-implantation-genetic-diagnosis-to-select-compatible-embryo-for-cord-blood-transplantation-as-treatment-for-sickle-cell-anemia
#14
Ciro D Martinhago, Kalina Rn Endo, Mariana A Oliveira, Alex Mm Dias, Gislaine S Pereira, Augusto M Azzolini, Paula Rq Estrada, Caio G Bruzaca, Ana Carolina N Martinhago
Sickle cell anemia is an inherited systemic hemoglobinopathy that affects hemoglobin production in red blood cells, leading to early morbidity and mortality. It is caused by a homozygous nucleotide substitution (c.20A>T) in the β-globin gene (HBB) that changes a glutamic acid to a valine in the protein. We present a case report of a fertile couple, both carriers of the sickle cell anemia mutation, with one affected daughter. Six cycles of assisted reproductive techniques were performed, resulting in 53 embryos in cleavage stage...
January 18, 2018: JBRA Assisted Reproduction
https://read.qxmd.com/read/29127675/clinical-features-of-%C3%AE-thalassemia-and-sickle-cell-disease
#15
JOURNAL ARTICLE
Patrick T McGann, Alecia C Nero, Russell E Ware
Sickle cell disease (SCD) and β-thalassemia are among the most common inherited diseases, affecting millions of persons globally. It is estimated that 5-7% of the world's population is a carrier of a significant hemoglobin variant. Without early diagnosis followed by initiation of preventative and therapeutic care, both SCD and β-thalassemia result in significant morbidity and early mortality. Despite great strides in the understanding of the molecular basis and pathophysiology of these conditions, the burden of disease remains high, particularly in limited resource settings...
2017: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/28904678/-epidemiological-profile-of-hemoglobinopathies-a-cross-sectional-and-descriptive-index-case-study
#16
JOURNAL ARTICLE
Fatima Dahmani, Souad Benkirane, Jaafar Kouzih, Aziz Woumki, Hassan Mamad, Azlarab Masrar
Hemoglobinopathies are congenital disorders resultimg from hemoglobin abnormalities. Major forms are often severe, their management is difficult and associated with a great psychosocial impact on patients and their families. They are classified as rare diseases and are still insufficiently known by health professionals. This lack of knowledge is at the origin of diagnostic errors, delay in their management and therefore high morbidity and mortality rate for these patients. In 2008, the World Health Organization (WHO) has published data on hemoglobinopathies epidemiology: more than 330...
2017: Pan African Medical Journal
https://read.qxmd.com/read/28827079/application-of-genomics-for-transfusion-therapy-in-sickle-cell-anemia
#17
REVIEW
Stella T Chou, Connie M Westhoff
The application of genomic approaches is impacting all areas of laboratory testing including transfusion medicine. Use of DNA-based test methods is particularly applicable for red cell and platelet antigen typing as the majority of genes encoding the carrier proteins and carbohydrates are now known and were cloned in the 1990's. Many of the antigenic polymorphisms are due to single nucleotide changes (SNP's) in the respective genes and DNA-arrays that target these changes have been validated by comparison with conventional serologic typing...
September 2017: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/28764172/clinico-haematological-profile-of-hereditary-haemolytic-anaemias-in-a-tertiary-health-care-hospital-in-south-india
#18
JOURNAL ARTICLE
Chaitra Venkataswamy, Am Shanthala Devi
INTRODUCTION: Hereditary haemolytic anaemia is a common inherited disorder causing varying degree of morbidity and mortality. This includes disorders due to haemoglobin defect, membrane defect, and enzyme defect. Among them haemoglobinopathies, a single gene disorder, constitutes the major part of the disorder and is distributed worldwide with an incidence of 5%. These inherited disorders pose a major public health problem and increase the burden both on the patient and the society. Presently, these disorders are not curable but can only be prevented...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://read.qxmd.com/read/27095682/effect-of-hereditary-hemochromatosis-gene-h63d-and-c282y-mutations-on-iron-overload-in-sickle-cell-disease-patients
#19
JOURNAL ARTICLE
Yunus Kasım Terzi, Tuğçe Bulakbaşı Balcı, Can Boğa, Zafer Koç, Zerrin Yılmaz Çelik, Hakan Özdoğu, Sema Karakuş, Feride İffet Şahin
OBJECTIVE: Hemochromatosis is an autosomal recessive disease that is one of the most important reasons for iron overload. Sickle cell disease is a hemoglobinopathy that occurs as a result of a homozygous mutation in the hemoglobin gene. Erythrocyte transfusion is frequently used in the treatment of this disease. Iron overload as a result of transfusion is important in the mortality and morbidity of sickle cell anemia patients as well as in other hemoglobinopathies. In this study, the effect of hemochromatosis gene (HFE) p...
December 1, 2016: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://read.qxmd.com/read/26139765/haemoglobinopathies-in-tribal-populations-of-india
#20
JOURNAL ARTICLE
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
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