Thalassemia Updates and Novel Developments [Working Title]最新文献

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Pulmonary Hypertension in Thalassemia Patients 地中海贫血患者的肺动脉高压

Thalassemia Updates and Novel Developments [Working Title] Pub Date : 2021-11-25 DOI: 10.5772/intechopen.101052

Ahmed Shemran Mutlaq Alwataify, Sabih Salih Alfatlawy, Yahia Abid Alshahid Altufaily

{"title":"Pulmonary Hypertension in Thalassemia Patients","authors":"Ahmed Shemran Mutlaq Alwataify, Sabih Salih Alfatlawy, Yahia Abid Alshahid Altufaily","doi":"10.5772/intechopen.101052","DOIUrl":"https://doi.org/10.5772/intechopen.101052","url":null,"abstract":"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.","PeriodicalId":264691,"journal":{"name":"Thalassemia Updates and Novel Developments [Working Title]","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125797612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

An Early Diagnosis of Thalassemia: A Boon to a Healthy Society 地中海贫血的早期诊断:健康社会的福音

Thalassemia Updates and Novel Developments [Working Title] Pub Date : 2021-10-18 DOI: 10.5772/intechopen.100357

Nitu Nigam, Prithvi Kumar Singh, S. Bhatnagar, Sanjay Kumar Nigam, Anil Kumar Tripathi

{"title":"An Early Diagnosis of Thalassemia: A Boon to a Healthy Society","authors":"Nitu Nigam, Prithvi Kumar Singh, S. Bhatnagar, Sanjay Kumar Nigam, Anil Kumar Tripathi","doi":"10.5772/intechopen.100357","DOIUrl":"https://doi.org/10.5772/intechopen.100357","url":null,"abstract":"The β-thalassemia is a hereditary blood disorders, characterized by reduced or absent synthesis of the hemoglobin beta chain that cause microcytic hypochromic anemia. An early diagnosis, economical test, awareness programs and prenatal screening will be a milestone for the eradication of this genetic disorder and to reduce burden of the health sector of a country subsequently the economics. Initially, the diagnosis of β-thalassemia depends on the hematological tests with red cell indices that disclosed the microcytic hypochromic anemia.Hemoglobin analysis shows the abnormal peripheral blood smear with nucleated red blood cells, and reduced amounts of hemoglobin A (HbA). In severe anemia, the hemoglobin analysis by HPLC reveals decreased quantities of HbA and increased the level of hemoglobin F (HbF).The decrease level of MCV and MCH are also associated with β-thalassemia. There are various different molecular techniques such as ARMS PCR, allele-specific PCR, Gap PCR, denaturing gradient gel electrophoresis, reverse dot blotting, DGGE, SSCP, HRM, MLPA, sequencing technology and microarray available to identify the globin chain gene mutations. These molecular techniques can be clustered for detection by mutation types and alteration in gene sequences.","PeriodicalId":264691,"journal":{"name":"Thalassemia Updates and Novel Developments [Working Title]","volume":"26 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115482354","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2