Relevant bibliographies by topics / Hemoglobinopathy Diagnosis

Academic literature on the topic 'Hemoglobinopathy Diagnosis'

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Published: 10 December 2022
Last updated: 28 January 2023

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Journal articles on the topic "Hemoglobinopathy Diagnosis"

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Makrydimas, G., G. Damiani, C. Jakil, V. Cigna, M. Orlandi, F. Picciotto, G. Schillaci, et al. "Celocentesis for early prenatal diagnosis of hemoglobinopathy." Ultrasound in Obstetrics & Gynecology 56, no. 5 (October 13, 2020): 672–77. http://dx.doi.org/10.1002/uog.22059.

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Surjawan, Yenny, Hwee Lian Tan, Rahajuningsih Dharma Setiabudy, and Wiwik Rositawati. "Early Screening of Hemoglobinopathy in Indonesia Using Erythrocyte Indices." Indonesian Biomedical Journal 9, no. 2 (August 1, 2017): 99. http://dx.doi.org/10.18585/inabj.v9i2.313.

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BACKGROUND: The mutation spectrums of hemoglobinopathy are different among populations that yield a different result of erythrocyte indices. Calculation of erythrocyte indices with some formula has been reported to differentiate between hemoglobinopathy and non-hemoglobinopathy, but its cut-off should be recalculated specific for each population to gain a better sensitivity and specificity. We aimed to evaluate red blood cell count (RBC), Mentzer index, red cell distribution width (RDW), RDW index (RDWI), Shine and Lal index (S&L) and Green and King index (G&K) to screen hemoglobinopathy in Indonesia.METHODS: A retrospective cross-sectional study was performed on 202 subjects. The diagnosis of hemoglobinopathy was determined based on the results of complete blood count (CBC) data, high-performance liquid chromatography (HPLC) and Hemoglobin H (HbH) inclusion body. The ferritin concentration was checked to determine the status of iron. The erythrocytes indices were analyzed and calculated to predict hemoglobinopathy. RESULTS: A total 202 subjects who met the criteria were involved in this study. Fifty percent showed pure hemoglobinopathy and 4% showed a combination of thalassemia and hemoglobinopathy. The hemoglobin concentration and RBC were significantly higher, and the mean corpuscular volume (MCV) and RDW were significantly lower in hemoglobinopathy compared to iron deficiency. The difference was not significant if the hemoglobinopathy was combined with iron deficiency. By this study's cut-off, the G&K and RDWI showed the highest accuracy, sensitivity, and specificity.CONCLUSION: The new cut-off of erythrocyte index and its calculation to screen hemoglobinopathy in Indonesia showed a higher sensitivity and specificity, especially for G&K and RDWI with cut-off 73 and 228, respectively. The presence of iron deficiency in hemoglobinopathy could decrease the sensitivity.KEYWORDS: hemoglobinopathy, RBC, Mentzer index, RDW, RDWI, S&L, G&K
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Hoyer, MD, James D. "Book Review: Hemoglobinopathy Diagnosis by Barbara J. Bain." Laboratory Medicine 32, no. 12 (December 1, 2001): 770. http://dx.doi.org/10.1309/leg8-84vu-xxy8-xtfu.

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Ghosh, Kanjaksha, Kinjalka Ghosh, Reepa Agrawal, and Anita H. Nadkarni. "Recent advances in screening and diagnosis of hemoglobinopathy." Expert Review of Hematology 13, no. 1 (December 22, 2019): 13–21. http://dx.doi.org/10.1080/17474086.2019.1656525.

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Nwabuko, Ogbonna Collins, Dorathy Adaunwa Okoh, and Martin Anazodo Nnoli. "Hemoglobinopathy- The Old and New Eras in a South-Eastern Nigerian Tertiary Health Center." Blood 126, no. 23 (December 3, 2015): 4577. http://dx.doi.org/10.1182/blood.v126.23.4577.4577.

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Abstract BACKGROUND : Hemoglobinopathy is the commonest genetic defect worldwide and sub-Saharan Africa bears the second largest burden of this disorder. The challenges confronting management of hemoglobinopathy in resource-limited settings in Africa are diagnosis, monitoring and prognostication. The old conventional hemoglobin protein electrophoresis test (HbPE) lacks the capacity to make definitive diagnosis of hemoglobin variants (genotype) of an individual, hence, so many diagnosis of hemoglobinopathy have been missed as a result of this defect. This necessitated the need for more reliable technique for screening, diagnosis, monitoring and evaluation of Hemoglobinopathy (High Performance Liquid Chromatography,(HPLC)). AIMS : This study aimed to compare the old conventional HbPE and the new chromatographic methods (HPLC) of determining variant Hemoglobin in a south-eastern tertiary health institution in Nigeria. METHODOLOGY : A one-year prospective study of Eight thousand four hundred and seventy eight (8,478) consecutive patients who presented at the Department of Hematology, Federal Medical Centre, Umuahia for HbPE from January to December 2013 (old era) and seventy (70) patients among them who used HPLC to determine their variant hemoglobin (new era). Biomedical data, electrophoretic and chromatographic patterns of their variant hemoglobin were obtained using the conventional alkaline cellulose acetate HbPE machine and the D-10TM HPLC [Bio-Rad Laboratories] respectively. Statistical analysis was done using SPSS. RESULT: A total of 8,478 patients made up of 1,505(17.8%) males and 5,013(59.1%) females were seen within the study period. The study included both children ( ≥7months) and adult with majority of them (25%) between age of 20-30 years. Three hemoglobin variants were identified viz: [(AA(6447/76%),AS(1876/22.12%),SS(159/1.88%)] using alkaline cellulose acetate HbPE machine in the old era. In the new era, four Hb variants [AA,AS,SS(5.7%) and SD(1.3%)] were obtained using the HPLC. There was a linear increment in quantitative HbF [(AA(31/37),AS(13/20),SS(0/5) had HbF <1%,while AA(0/37),AS(0/20),SS(2/5) had HbF>10%,(Table 1)] and HbA2 [(AA(45/45),AS(8/20),SS(0/5) and AA(0/45),AS(3/20),SS(2/5) had HbA2<3.5% and >10% respectively,(Table 2)] as you move from AA, AS ,to SS Hb variants. The S-window for all HbSS (4/5) was >70% while that of AS and SD ranged between 40-70%. CONCLUSION : A critical comparison of the old and new methods of diagnosis of hemoglobinopathy showed that the later (HPLC) was superior to the former (HbPE) in the early detection, diagnosis, quantification, monitoring and prognostication of Hemoglobinopathy. Therefore, HPLC is strongly recommended in the policy guidelines for Hemoglobinopathy screening in health institutions in developing countries such as Nigeria where the prevalence is high. KEYWORDS : Diagnosis, Hemoglobin variants, HbPE, HPLC, Hemoglobinopathy. Disclosures No relevant conflicts of interest to declare.
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Panou, Vasiliki, Peter-Diedrich Mathias Jensen, Jan Freddy Pedersen, Lars Pilegaard Thomsen, and Ulla Møller Weinreich. "Hemoglobin Variant (Hemoglobin Aalborg) Mimicking Interstitial Pulmonary Disease." Pulmonary Medicine 2014 (2014): 1–6. http://dx.doi.org/10.1155/2014/701839.

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Hemoglobin Aalborg is a moderately unstable hemoglobin variant with no affiliation to serious hematological abnormality or major clinical symptoms under normal circumstances. Our index person was a healthy woman of 58, not previously diagnosed with hemoglobinopathy Aalborg, who developed acute respiratory failure after a routine cholecystectomy. Initially she was suspected of idiopathic interstitial lung disease, yet a series of tests uncovered various abnormal physiological parameters and set the diagnosis of hemoglobinopathy Aalborg. This led us to examine a group of the index person’s relatives known with hemoglobinopathy Aalborg in order to study whether the same physiological abnormalities would be reencountered. They were all subjected to spirometry and body plethysmography, six-minute walking test, pulse oximetry, and arterial blood gas samples before and after the walking test. The entire study population presented the same physiological anomalies: reduction in diffusion capacity, and abnormalities inPaO2and p50 values; the latter could not be presented by the arterial blood gas analyzer; furthermore there was concordance between pulse oximetry and arterial blood gas samples regarding saturation. These data suggest that, based upon the above mentioned anomalies in physiological parameters, the diagnosis of hemoglobinopathy Aalborg should be considered.
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Degandt, Simon, Rémy Coens, Barbara Cauwelier, Helena Devos, Michel Langlois, and Jan Emmerechts. "Evaluation of four hemoglobin separation analyzers for hemoglobinopathy diagnosis." Journal of Clinical Laboratory Analysis 32, no. 1 (April 6, 2017): e22224. http://dx.doi.org/10.1002/jcla.22224.

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Punjaji Tambse, Manjusha, Maya Suresh Vasaikar, and Sunil Santaram Chavan. "Hemoglobin Patterns in Sickle Cell Hemoglobinopathies- A Large Prospective Study in North Maharashtra." MVP Journal of Medical Sciences 4, no. 1 (May 23, 2017): 84. http://dx.doi.org/10.18311/mvpjms/0/v0/i0/11831.

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Introduction: Sickle cell haemoglobinopathy is an inherited hemoglobinopathy resulting from a mutation occurring in betaglobin gene, on chromosome 11. The gene is prevalent in some tribes of North Maharashtra. The main aim of the study is to determine haemoglobin patterns in cases with sickle cell hemoglobinoathies in North Maharashtra using HPLC testing system. Material and Methods: This is a prospective study done over a period of 6 years. 10081 patients having positive solubility test or negative solubility test but having clinical suspicion of Sickle cell hemoglobinopathies were studied in detail and all samples were subjected for HPLC testing. Results: Prevalence of sickle cell hemoglobinopathy in this study was 70.36%. Most common pattern of haemoglobin observed was SA (89.72%). A slight female preponderance (54%) was noted. Predominant age group was paediatric (39.96%), followed by12-20yrs (33.97%). Oldest case for HbSS was 55yrs male. Predominant category affected was ST (82.05%). Conclusion: A very high prevalence of Sickle cell hemoglobinopathy was noted in this study. This is because the study was done in areas where Pawara and Bhill community resides who have a high frequency of HbS gene. Solubility test was found to be cost effective and easy screening test (Sensitivity being70.36%). HPLC found to be Rapid and accurate test for diagnosis of hemoglobinopathy and had helped in diagnosis of some rare heterozygous disorders like SA-HBQ India, SA-Hereditary persistence of foetal haemoglobin, HBD-SA. This is one of the largest and first of its kind prospective study which will help in prevention and cost effective management in targeted population.
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Portell-Rigo, I., S. Guardia-Alés, M. Molina-Arrebola, J. Ruiz-Cara, M. Benayas-Bellido, and C. Avivar-Oyonarte. "T254 Diagnosis of hemoglobinopathy S homozygote in a patient without symptomatology." Clinica Chimica Acta 530 (May 2022): S182—S183. http://dx.doi.org/10.1016/j.cca.2022.04.742.

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Lobel, Jeffrey S., Bruce F. Cameron, Earslean Johnson, Dianne Smith, and Karen Kalinyak. "Value of Screening Umbilical Cord Blood for Hemoglobinopathy." Pediatrics 83, no. 5 (May 1, 1989): 823–26. http://dx.doi.org/10.1542/peds.83.5.823.

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Foremost among the beneficial effects of screening umbilical cord blood is the optimized quality of care that can follow the immediate involvement of an infant with sickle cell disease and his or her family in an appropriate health care system. This is exemplified by the reduction in the case fatality rate of pneumococcal septicemia that has been achieved. Appropriate follow-up of screening also includes transmission of information about the diagnosis of a hemoglobinopathy trait or α-thalassemia to affected families and their physicians, with ready availability of education and counseling.
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Dissertations / Theses on the topic "Hemoglobinopathy Diagnosis"

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Dachary, Martine. "Etude d'une hémoglobinopathie : l'hémoglobine SETIF." Paris 5, 1994. http://www.theses.fr/1994PA05P055.

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Chinelato-Fernandes, Ana Regina [UNESP]. "Diferenciação molecular de mutantes de hemoglobinas humanas na população brasileira." Universidade Estadual Paulista (UNESP), 2003. http://hdl.handle.net/11449/102762.

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Chinelato-Fernandes, Ana Regina. "Diferenciação molecular de mutantes de hemoglobinas humanas na população brasileira /." São José do Rio Preto : [s.n.], 2003. http://hdl.handle.net/11449/102762.

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Ondei, Luciana de Souza. "Perfil eletroforético e cromatográfico das hemoglobinas "S-like" /." São José do Rio Preto : [s.n.], 2005. http://hdl.handle.net/11449/92520.

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Orientador: Claudia Regina Bonini Domingos
Banca: Ivan de Lucena Angulo
Banca: Carlos Roberto Ceron
Resumo: As hemoglobinas (Hb) variantes, originadas em sua maioria por simples substituições de aminoácidos, resultam de mudanças na seqüência de nucleotídeos. Atualmente, o número de Hb anormais identificadas tem aumentado devido à melhoria nas metodologias de análises, porém muitos laboratórios de rotina não estão preparados para a correta identificação dos mutantes. A Hb S é uma variante de Hb bem caracterizada que apresenta prevalência variável nas diferentes regiões do Brasil. No entanto, há uma variedade de Hb que apresenta padrão de migração eletroforética semelhante ao da Hb S em pH alcalino as quais são denominadas "Hb S-like", podendo ser erroneamente diagnosticadas e com suas freqüências subestimadas. Neste trabalho foram estabelecidos os valores referenciais de Hb por HPLC em portadores de Hb S e determinados os perfis eletroforético e cromatográfico das Hb "S-like" dentre as amostras enviadas ao LHGDH. Foram encontradas as Hb Hasharon, Hb D-Los Angeles, Hb Korle-Bu, Hb Lepore, Hb D-Iran, Hb tipo G, Hb Queens, Hb Montgomery e Hb Q-Índia. Também foram encontrados casos de associação entre dois mutantes de cadeia beta. As eletroforeses em pH alcalino e pH ácido foram utilizadas para o rastreamento inicial das Hb variantes e as eletroforeses de cadeias polipeptídicas em ambos pH foram realizadas para a identificação da cadeia globínica alterada. As análises cromatográficas permitiram o direcionamento dos prováveis mutantes, sendo também possível a quantificação precisa das frações de variantes. Desta forma, a associação de metodologias laboratoriais clássicas de diagnóstico é fundamental para o levantamento das suspeitas fenotípicas. Os perfis da Hb S e das Hb "S-like" estabelecidos neste estudo auxiliarão no diagnóstico dessas Hb variantes em serviços de saúde.
Abstract: The variants hemoglobin (Hb) originated mainly by simple amino acid substitutions, result of nucleotides sequences changes. Currently, the number of abnormal hemoglobin identified has increased due to improvement in the analysis methodologies, but many routine laboratories are not prepared for the correct mutants identification. The Hb S is a variant Hb well characterized that shows variable prevalence in different regions of Brazil. However, there is a diversity of Hb that present electrophoretic migration on alkaline pH similar to Hb S, named Hb S-like, which can be incorrectly diagnosed and with their frequencies underestimated. At the present study the reference ranges for Hb S obtained by HPLC were established, and the electrophoretic and cromatographic profile for Hb S like were determined. The Hb Hasharon, Hb D-Los Angeles, Hb Korle-Bu, Hb Lepore, Hb D-Iran, Hb tipo G, Hb Queens, Hb Montgomery e Hb Q-Índia were found. Cases of association between two mutants of beta chain were also found. The electrophoresis on alkaline pH and acid pH were utilized to the initial screen of these variants Hb and the globin chains electrophoresis in both pH were performed to identify the mutant globin chain. The chromatographic analysis permitted the identification of the likely variant hemoglobin and also facilitated the exact quantification of variants. Therefore, the association of the classical laboratory methods of diagnostic is fundamental for the identification of variant Hb suspect. The Hb S and Hb S-like profile determined in this study will help in the diagnostic of these variants Hb in healthy service.
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Pic, Philippe. "Contribution de la chromatographie liquide haute performance à l'étude des maladies génétiques de l'hémoglobine." Paris 5, 1994. http://www.theses.fr/1994PA05P048.

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Ondei, Luciana de Souza [UNESP]. "Perfil eletroforético e cromatográfico das hemoglobinas S-like." Universidade Estadual Paulista (UNESP), 2005. http://hdl.handle.net/11449/92520.

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As hemoglobinas (Hb) variantes, originadas em sua maioria por simples substituições de aminoácidos, resultam de mudanças na seqüência de nucleotídeos. Atualmente, o número de Hb anormais identificadas tem aumentado devido à melhoria nas metodologias de análises, porém muitos laboratórios de rotina não estão preparados para a correta identificação dos mutantes. A Hb S é uma variante de Hb bem caracterizada que apresenta prevalência variável nas diferentes regiões do Brasil. No entanto, há uma variedade de Hb que apresenta padrão de migração eletroforética semelhante ao da Hb S em pH alcalino as quais são denominadas “Hb S-like”, podendo ser erroneamente diagnosticadas e com suas freqüências subestimadas. Neste trabalho foram estabelecidos os valores referenciais de Hb por HPLC em portadores de Hb S e determinados os perfis eletroforético e cromatográfico das Hb “S-like” dentre as amostras enviadas ao LHGDH. Foram encontradas as Hb Hasharon, Hb D-Los Angeles, Hb Korle-Bu, Hb Lepore, Hb D-Iran, Hb tipo G, Hb Queens, Hb Montgomery e Hb Q-Índia. Também foram encontrados casos de associação entre dois mutantes de cadeia beta. As eletroforeses em pH alcalino e pH ácido foram utilizadas para o rastreamento inicial das Hb variantes e as eletroforeses de cadeias polipeptídicas em ambos pH foram realizadas para a identificação da cadeia globínica alterada. As análises cromatográficas permitiram o direcionamento dos prováveis mutantes, sendo também possível a quantificação precisa das frações de variantes. Desta forma, a associação de metodologias laboratoriais clássicas de diagnóstico é fundamental para o levantamento das suspeitas fenotípicas. Os perfis da Hb S e das Hb “S-like” estabelecidos neste estudo auxiliarão no diagnóstico dessas Hb variantes em serviços de saúde.
The variants hemoglobin (Hb) originated mainly by simple amino acid substitutions, result of nucleotides sequences changes. Currently, the number of abnormal hemoglobin identified has increased due to improvement in the analysis methodologies, but many routine laboratories are not prepared for the correct mutants identification. The Hb S is a variant Hb well characterized that shows variable prevalence in different regions of Brazil. However, there is a diversity of Hb that present electrophoretic migration on alkaline pH similar to Hb S, named Hb S-like, which can be incorrectly diagnosed and with their frequencies underestimated. At the present study the reference ranges for Hb S obtained by HPLC were established, and the electrophoretic and cromatographic profile for Hb S like were determined. The Hb Hasharon, Hb D-Los Angeles, Hb Korle-Bu, Hb Lepore, Hb D-Iran, Hb tipo G, Hb Queens, Hb Montgomery e Hb Q-Índia were found. Cases of association between two mutants of beta chain were also found. The electrophoresis on alkaline pH and acid pH were utilized to the initial screen of these variants Hb and the globin chains electrophoresis in both pH were performed to identify the mutant globin chain. The chromatographic analysis permitted the identification of the likely variant hemoglobin and also facilitated the exact quantification of variants. Therefore, the association of the classical laboratory methods of diagnostic is fundamental for the identification of variant Hb suspect. The Hb S and Hb S-like profile determined in this study will help in the diagnostic of these variants Hb in healthy service.
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Chebil, Sandrine. "Génétique moléculaire des beta thalassémies en Tunisie Centrale." Bordeaux 2, 1996. http://www.theses.fr/1996BOR2P021.

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Mario, Nathalie. "Etude qualitative et quantitative des hémoglobines par électrophorèse capillaire." Paris 5, 1997. http://www.theses.fr/1997PA05P632.

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Books on the topic "Hemoglobinopathy Diagnosis"

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Haemoglobinopathy diagnosis. 2nd ed. Malden, Mass: Blackwell Pub., 2006.

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Bain, Barbara J. Haemoglobinopathy Diagnosis. Wiley & Sons, Incorporated, John, 2020.

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Bain, Barbara J. Haemoglobinopathy Diagnosis. Wiley & Sons, Incorporated, John, 2008.

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Bain, Barbara J. Haemoglobinopathy Diagnosis. Wiley & Sons, Limited, John, 2020.

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Bain, Barbara J. Haemoglobinopathy Diagnosis. Wiley & Sons, Limited, John, 2007.

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Bain, Barbara J. Haemoglobinopathy Diagnosis. Wiley & Sons, Incorporated, John, 2020.

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Bain, Barbara J. Haemoglobinopathy Diagnosis. Wiley & Sons, Incorporated, John, 2008.

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Bain, Barbara J. Haemoglobinopathy Diagnosis. Wiley & Sons, Limited, John, 2020.

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Haemoglobinopathy Diagnosis. Blackwell Publishing, Incorporated, 2001.

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L, Evatt Bruce, and Centers for Disease Control (U.S.), eds. Fundamental diagnostic hematology: Anemia. 2nd ed. Atlanta, Ga: U.S. Dept. of Health and Human Services, Public Health Service, Centers for Disease Control, 1992.

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Book chapters on the topic "Hemoglobinopathy Diagnosis"

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Payandeh, Mehrdad, and Masoud Sadeghi. "Hemoglobinopathy Approach Diagnosis and Treatment Policy." In Inherited Hemoglobin Disorders. InTech, 2015. http://dx.doi.org/10.5772/61311.

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Shemran Mutlaq Alwataify, Ahmed, Sabih Salih Alfatlawy, and Yahia Abid Alshahid Altufaily. "Pulmonary Hypertension in Thalassemia Patients." In Blood - Updates on Hemodynamics and Thalassemia. IntechOpen, 2022. http://dx.doi.org/10.5772/intechopen.101052.

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Pulmonary hypertension (PH) is defined in children as a mean pulmonary arterial pressure (PAP) greater than 25 mmHg at rest or 30 mmHg during physical activity, with increased pulmonary artery capillary wedge pressure and an increased pulmonary vascular resistance greater than 3 Wood units × M2. it is the main cause of morbidity and mortality in the group of thalassemia, if no treatment leads to right ventricular heart failure and death. The development of pulmonary arterial hypertension (PAH) is assumed to be the result of many multifactorial pathogenic mechanisms including chronic hemolysis, iron overload, hypercoagulability, and erythrocyte dysfunction as a result of splenectomy, inflammation and nitric oxide (NO) depletion. PAH symptoms are non-specific, their signs consist of right ventricular lift, an accentuated pulmonary component of the second heart sound, a (gallop rhythm) right ventricular third heart sound, and parasternal heave meaning a hypertrophied right ventricle. The diagnosis of PAH requires a clinical suspicion based on symptoms and physical examination. Echocardiography is frequently used to screen for PAH, monitor progression over time and allow identification of patients for whom diagnostic right heart catheterization (RHC) is warranted and its treatment includes hemoglobinopathy specific treatment and PAH specific therapy.
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Conference papers on the topic "Hemoglobinopathy Diagnosis"

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Surapur, K. "Novel Case of Undifferentiated Hypoxia Leading to Adulthood Diagnosis of Fontainebleau Hemoglobinopathy." In American Thoracic Society 2019 International Conference, May 17-22, 2019 - Dallas, TX. American Thoracic Society, 2019. http://dx.doi.org/10.1164/ajrccm-conference.2019.199.1_meetingabstracts.a3213.

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