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Sickle cell carriers morbidity

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https://www.readbyqxmd.com/read/28904678/-epidemiological-profile-of-hemoglobinopathies-a-cross-sectional-and-descriptive-index-case-study
#1
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://www.readbyqxmd.com/read/28827079/application-of-genomics-for-transfusion-therapy-in-sickle-cell-anemia
#2
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...
August 8, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28764172/clinico-haematological-profile-of-hereditary-haemolytic-anaemias-in-a-tertiary-health-care-hospital-in-south-india
#3
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://www.readbyqxmd.com/read/27095682/effect-of-hereditary-hemochromatosis-gene-h63d-and-c282y-mutations-on-iron-overload-in-sickle-cell-disease-patients
#4
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://www.readbyqxmd.com/read/26139765/haemoglobinopathies-in-tribal-populations-of-india
#5
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
https://www.readbyqxmd.com/read/25754217/negative-health-implications-of-sickle-cell-trait-in-high-income-countries-from-the-football-field-to-the-laboratory
#6
REVIEW
Nigel S Key, Philippe Connes, Vimal K Derebail
Worldwide, sickle cell trait is a highly prevalent gene carrier state. While generally a benign condition with a normal life expectancy, it is becoming increasingly clear that the sickle trait is associated with certain adverse outcomes. This article will focus on three of these outcomes, namely exertional rhabdomyolysis and sudden death, chronic renal dysfunction, and venous thromboembolism. In each case, the epidemiological evidence for the association is reviewed, together with the existing data on potential underlying mechanisms...
July 2015: British Journal of Haematology
https://www.readbyqxmd.com/read/23807756/zinc-supplements-for-treating-thalassaemia-and-sickle-cell-disease
#7
REVIEW
Kye Mon Min Swe, Adinegara B L Abas, Amit Bhardwaj, Ankur Barua, N S Nair
BACKGROUND: Haemoglobinopathies, inherited disorders of haemoglobin synthesis (thalassaemia) or structure (sickle cell disease), are responsible for significant morbidity and mortality throughout the world. The WHO estimates that, globally, 5% of adults are carriers of a haemoglobin condition, 2.9% are carriers of thalassaemia and 2.3% are carriers of sickle cell disease. Carriers are found worldwide as a result of migration of various ethnic groups to different regions of the world. Zinc is an easily available supplement and intervention programs have been carried out to prevent deficiency in people with thalassaemia or sickle cell anaemia...
2013: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/22360576/hydroxycarbamide-alters-erythroid-gene-expression-in-children-with-sickle-cell-anaemia
#8
Jonathan M Flanagan, Shirley Steward, Thad A Howard, Nicole A Mortier, Amy C Kimble, Banu Aygun, Jane S Hankins, Geoffrey A Neale, Russell E Ware
Sickle cell anaemia (SCA) is a severe debilitating haematological disorder associated with a high degree of morbidity and mortality. The level of fetal haemoglobin (HbF) is well-recognized as a critical laboratory parameter: lower HbF is associated with a higher risk of vaso-occlusive complications, organ damage, and early death. Hydroxycarbamide treatment can induce HbF, improve laboratory parameters, and ameliorate clinical complications of SCA but its mechanisms of action remain incompletely defined and the HbF response is highly variable...
April 2012: British Journal of Haematology
https://www.readbyqxmd.com/read/21969001/functional-promoter-haplotypes-of-interleukin-18-condition-susceptibility-to-severe-malarial-anemia-and-childhood-mortality
#9
Samuel B Anyona, Prakasha Kempaiah, Evans Raballah, Collins Ouma, Tom Were, Gregory C Davenport, Stephen N Konah, John M Vulule, James B Hittner, Charity W Gichuki, John M Ong'echa, Douglas J Perkins
Severe malarial anemia (SMA) is a leading cause of morbidity and mortality in children residing in regions where Plasmodium falciparum transmission is holoendemic. Although largely unexplored in children with SMA, interleukin-18 (IL-18) is important for regulating innate and acquired immunity in inflammatory and infectious diseases. As such, we selected two functional single-nucleotide polymorphisms (SNPs) in the IL-18 promoter (-137G→C [rs187238] and -607C→A [rs1946518]) whose haplotypes encompass significant genetic variation due to the presence of strong linkage disequilibrium among these variants...
December 2011: Infection and Immunity
https://www.readbyqxmd.com/read/19795915/the-effects-of-deferiprone-and-deferasirox-on-the-structure-and-function-of-beta-thalassemia-hemoglobin
#10
A A Moosavi-Movahedi, S J Mousavy, A Divsalar, A Babaahmadi, K Karimian, A Shafiee, M Kamarie, N Poursasan, B Farzami, G H Riazi, G H Hakimelahi, F Y Tsai, F Ahmad, M Amani, A A Saboury
Transfusional iron overload is a major cause of morbidity and mortality in thalassemia, sickle-cell disease and other chronic anemias. To overcome these problems, orally bio available iron chelators, deferiprone and deferasirox, were used for the treatment of patients suffering from thalassemia. The interactions between deferiprone and deferasirox with the carrier protein, beta-thalassemia hemoglobin (Hb), were investigated using fluorescence, circular dichroism (CD) and UV-visible measurements at physiological condition...
December 2009: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/19393983/complications-associated-with-sickle-cell-trait-a-brief-narrative-review
#11
REVIEW
Geoffrey Tsaras, Amma Owusu-Ansah, Freda Owusua Boateng, Yaw Amoateng-Adjepong
Sickle cell trait occurs in approximately 300 million people worldwide, with the highest prevalence of approximately 30% to 40% in sub-Saharan Africa. Long considered a benign carrier state with relative protection against severe malaria, sickle cell trait occasionally can be associated with significant morbidity and mortality. Sickle cell trait is exclusively associated with rare but often fatal renal medullary cancer. Current cumulative evidence is convincing for associations with hematuria, renal papillary necrosis, hyposthenuria, splenic infarction, exertional rhabdomyolysis, and exercise-related sudden death...
June 2009: American Journal of Medicine
https://www.readbyqxmd.com/read/19103852/starting-neonatal-screening-for-haemoglobinopathies-in-the-netherlands
#12
P C Giordano
Neonatal screening for haemoglobinopathies started in The Netherlands on 1 January 2007. The method of choice, high-performance liquid chromatography, and the universal setting have shown that the predicted incidence is indeed present in the country. Patients and carriers are reported in order to prevent morbidity, and for the primary prevention of serious haemoglobinopathies. Background, preceding discussion, health gain, implementation, provisional results and ethics issues are discussed, as well as matters concerning technology, know-how, and ongoing and future developments...
January 2009: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/18667698/dna-polymorphisms-at-the-bcl11a-hbs1l-myb-and-beta-globin-loci-associate-with-fetal-hemoglobin-levels-and-pain-crises-in-sickle-cell-disease
#13
Guillaume Lettre, Vijay G Sankaran, Marcos André C Bezerra, Aderson S Araújo, Manuela Uda, Serena Sanna, Antonio Cao, David Schlessinger, Fernando F Costa, Joel N Hirschhorn, Stuart H Orkin
Sickle cell disease (SCD) is a debilitating monogenic blood disorder with a highly variable phenotype characterized by severe pain crises, acute clinical events, and early mortality. Interindividual variation in fetal hemoglobin (HbF) expression is a known and potentially heritable modifier of SCD severity. High HbF levels are correlated with reduced morbidity and mortality. Common single nucleotide polymorphisms (SNPs) at the BCL11A and HBS1L-MYB loci have been implicated previously in HbF level variation in nonanemic European populations...
August 19, 2008: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/18582416/-hemoglobinopathies-and-glucose-6-phosphate-dehydrogenase-deficiency-in-the-sub-saharan-immigrant-population-of-the-center-and-south-maresme-region-catalonia-spain
#14
Germán Las Heras Manso, Jordi Juncà Piera, Evarist Feliu Frasnedo, Joan Manel Rovira Fernández, Miguel Gil García
BACKGROUND AND OBJECTIVE: Prevalence of hemoglobinophaty S and glucose-6-phosphate dehydrogenase (G6PD) deficiency are very increased in certain zones of Western Africa due to the positive pressure exerted by malaria on these congenital defects. In Maresme, a region of East Catalonia, there is a numerous community of African people, coming from areas of Western Africa where sickle cell trait and G6PD deficiency are frequent. The aim of our study was to know the prevalence of both disturbances in this population...
June 7, 2008: Medicina Clínica
https://www.readbyqxmd.com/read/17667573/the-novel-hemoglobin-based-oxygen-carrier-hrc-101-improves-survival-in-murine-sickle-cell-disease
#15
Mark W Crawford, Tal Shichor, Thomas Engelhardt, Gord Adamson, David Bell, F J Lou Carmichael, Peter C W Kim
BACKGROUND: Erythrocyte transfusion decreases morbidity in sickle cell disease, but is not without risk. Use of a hemoglobin-based oxygen carrier could offer the benefits of erythrocyte transfusion while reducing related complications. The authors tested the hypothesis that the novel hemoglobin-based oxygen carrier, HRC 101, would improve survival during exposure to acute hypoxia in a murine model of sickle cell disease, the transgenic mouse expressing hemoglobin SAD (alpha2beta2). METHODS: Wild-type (n = 30) and transgenic SAD (n = 36) mice received 0...
August 2007: Anesthesiology
https://www.readbyqxmd.com/read/17430715/-evaluation-of-systematic-neonatal-screening-for-sickle-cell-diseases-in-madrid-three-years-after-its-introduction
#16
E Cela de Julián, E Dulín Iñiguez, M Guerrero Soler, M Arranz Leirado, P Galarón García, C Beléndez Bieler, J M Bellón Cano, M García Arias, A Cantalejo López
BACKGROUND: Sickle cell anemia is a hereditary disease which, as a result of migration, constitutes one of the most frequent genetic disorders in northwest Europe. Complications secondary to this disease are common during the first 3 years of life and early diagnosis has been recommended to reduce their development. The autonomous community of Madrid began to perform universal neonatal screening for hemoglobinopathies in May 2003. This study presents the results of the first 32 months of this screening program...
April 2007: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/16635275/sickle-cell-anemia-in-the-female-patient
#17
REVIEW
Nathalie Dauphin-McKenzie, Jerry M Gilles, Elvire Jacques, Thomas Harrington
UNLABELLED: Seventy-two thousand Americans are homozygous for the sickle cell gene and 2 million are carriers. The gene offers protection against malaria but can be a cause of chronic pain and early death. Life expectancy is 48 years for females. Some people with sickle cell anemia live into their 60s and beyond. The purpose of this article is to review and summarize evidence from clinical, translational, and epidemiologic studies that have examined the clinically relevant aspects of sickle cell anemia as it relates to the female patient...
May 2006: Obstetrical & Gynecological Survey
https://www.readbyqxmd.com/read/16295757/-prevalence-and-morbidity-of-g6pd-deficiency-in-sickle-cell-disease-in-the-homozygote
#18
S Diop, A Sene, M Cisse, A O Toure, O Sow, D Thiam, L Diakhate
Sickle cell disease and G6PD deficiency have similar prevalence of 8 to 10% in Senegalese population. Our objectives were to determine the prevalence of G6PD deficiency in Hb S carriers and normal subjects, and to assess the interaction of G6PD deficiency on clinical severity of sickle cell disease. G6PD activity was measured in 319 sickle cell patients and in 318 subjects without HbS. Clinical severity was compared in male homozygous sickle cell patients (11 with G6PD deficiency and 19 without deficit). In homozygous sickle cell patients, the G6PD status was assessed after correction of reticulocyte count following the micro-centrifugation method of Herz...
2005: Dakar Médical
https://www.readbyqxmd.com/read/12532229/high-frequency-of-the-ccr5delta32-variant-among-individuals-from-an-admixed-brazilian-population-with-sickle-cell-anemia
#19
J A B Chies, M H Hutz
Homozygous sickle cell disease (SCD) has a wide spectrum of clinical manifestations. In Brazil, the main cause of death of individuals with SCD is recurrent infection. The CCR5delta32 allele, which confers relative resistance to macrophage-tropic HIV virus infection, probably has reached its frequency and world distribution due to other pathogens that target macrophage in European populations. In the present investigation a relatively higher prevalence (5.1%) of the CCR5delta32 allele was identified, by PCR amplification using specific primers, in 79 SCD patients when compared to healthy controls (1...
January 2003: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/12195357/diagnostic-criteria-and-risk-factors-for-plasmodium-ovale-malaria
#20
Farba B K Faye, André Spiegel, Adama Tall, Cheikh Sokhna, Didier Fontenille, Christophe Rogier, Jean-François Trape
Plasmodium ovale is a common malaria parasite in Africa, but the epidemiology of P. ovale malaria is poorly known. Exposure to malaria, parasitemia, and morbidity were monitored for 6 years among the residents of a village in Senegal. The relationship between the level of P. ovale parasitemia and fever risk were analyzed, and diagnostic criteria for clinical P. ovale malaria were established. Then the relationships between the occurrence of P. ovale clinical malaria and a series of entomological, epidemiological, and genetic factors were investigated...
September 1, 2002: Journal of Infectious Diseases
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