Pub Date : 2018-07-11DOI: 10.5772/INTECHOPEN.76087
Mohamed Ramadan El-Shansory, Mohiee Eldeen Abdelaziz Awad, Hanan H Soliman
Prevalence of hepatitis C virus (HCV) infection is relatively low in children. However, seroprevalence rates of 10–20% have been reported among children who received repeated transfusion. The development and the severity of liver fibrosis are strongly related to the extent of the liver iron overload and to the presence of chronic hepatitis C (CHC). In CHC, liver iron overload has been suggested as a negative prognos- tic factor exacerbating inflammation with subsequent progression of liver fibrosis and decrease in antiviral therapy effectiveness. CHC may be suspected based on medical history or accidentally discovered abnormal liver functions. Hepatitis C is diagnosed by positive serology for viral antibodies and confirmed by polymerase chain reaction (PCR) to detect virus RNA. The treatment of HCV infection in children was difficult due to the limitations of pegylated interferon-α and ribavirin. In 2017, FDA approved the first direct-acting antiviral agents (DAAs) for children including ledipasvir/sofosbuvir in the adult dose, 90/400 mg, to treat HCV in children and adolescents aged 12 years and older or weighing at least 35 kg. Similarly, giving half the adult fixed-dose of ledipas -vir/sofosbuvir, 45/200 mg, to children aged 6–11 years is still under clinical trials with promising results.
{"title":"Hepatitis C Virus in Thalassemia","authors":"Mohamed Ramadan El-Shansory, Mohiee Eldeen Abdelaziz Awad, Hanan H Soliman","doi":"10.5772/INTECHOPEN.76087","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.76087","url":null,"abstract":"Prevalence of hepatitis C virus (HCV) infection is relatively low in children. However, seroprevalence rates of 10–20% have been reported among children who received repeated transfusion. The development and the severity of liver fibrosis are strongly related to the extent of the liver iron overload and to the presence of chronic hepatitis C (CHC). In CHC, liver iron overload has been suggested as a negative prognos- tic factor exacerbating inflammation with subsequent progression of liver fibrosis and decrease in antiviral therapy effectiveness. CHC may be suspected based on medical history or accidentally discovered abnormal liver functions. Hepatitis C is diagnosed by positive serology for viral antibodies and confirmed by polymerase chain reaction (PCR) to detect virus RNA. The treatment of HCV infection in children was difficult due to the limitations of pegylated interferon-α and ribavirin. In 2017, FDA approved the first direct-acting antiviral agents (DAAs) for children including ledipasvir/sofosbuvir in the adult dose, 90/400 mg, to treat HCV in children and adolescents aged 12 years and older or weighing at least 35 kg. Similarly, giving half the adult fixed-dose of ledipas -vir/sofosbuvir, 45/200 mg, to children aged 6–11 years is still under clinical trials with promising results.","PeriodicalId":354931,"journal":{"name":"Thalassemia and Other Hemolytic Anemias","volume":"15 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128153003","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}
Pub Date : 2018-07-11DOI: 10.5772/INTECHOPEN.75860
T. Sugimoto
This chapter focuses on anti-red blood cells antibody and anti-globulin test. The relationship between warm or cold antibody and hemolysis is explained. Direct anti-globulin test (DAT) is a useful clinical examination tool on the diagnosis of autoimmune hemolytic anemia (AIHA); however, false positive or negative results are sometimes detected. This chapter shows the disposition about the surroundings of the IgG antibody in DAT examination. In addition, this chapter contains pointing issue on the diagnosis of AIHA. Some pitfalls about diagnostic AIHA are presented from our experienced cases. To diagnose the background diseases such as lymphoproliferative disorders or autoimmune diseases under the analysis of secondary AIHA is important.
{"title":"Direct Anti-Globulin Test and Clinical Diagnosis","authors":"T. Sugimoto","doi":"10.5772/INTECHOPEN.75860","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.75860","url":null,"abstract":"This chapter focuses on anti-red blood cells antibody and anti-globulin test. The relationship between warm or cold antibody and hemolysis is explained. Direct anti-globulin test (DAT) is a useful clinical examination tool on the diagnosis of autoimmune hemolytic anemia (AIHA); however, false positive or negative results are sometimes detected. This chapter shows the disposition about the surroundings of the IgG antibody in DAT examination. In addition, this chapter contains pointing issue on the diagnosis of AIHA. Some pitfalls about diagnostic AIHA are presented from our experienced cases. To diagnose the background diseases such as lymphoproliferative disorders or autoimmune diseases under the analysis of secondary AIHA is important.","PeriodicalId":354931,"journal":{"name":"Thalassemia and Other Hemolytic Anemias","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130275276","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}
Pub Date : 2018-07-11DOI: 10.5772/INTECHOPEN.77375
I. AL-Zwaini
{"title":"Introductory Chapter: Thalassemia - An Overview","authors":"I. AL-Zwaini","doi":"10.5772/INTECHOPEN.77375","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.77375","url":null,"abstract":"","PeriodicalId":354931,"journal":{"name":"Thalassemia and Other Hemolytic Anemias","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131169679","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}
Pub Date : 2018-07-11DOI: 10.5772/INTECHOPEN.76496
Özgür Aldemir
Hemoglobinopathies are a group of red blood cell productivity disorders, including α-thalassemia, β-thalassemia, and sickle cell disease (SCD), that are autosomal recessive and very common in Mediterranean, Middle Eastern, East Asian, and African countries. Thalassemia presents with the following clinical signs and symptoms: fatigue, weakness, yellowish skin, facial bone deformities, and abdominal swelling. Genetic studies have successfully characterized the key variants and pathways involved in hemoglobin F (HbF) regulation, providing new therapeutic targets for HbF reactivation. According to the current literature, using lentivirus vector for gene therapy and genome-editing-based treatment strategies for β-thalassemia and SCD have been discussed and well documented. According to current studies, novel treatments are becoming more important for thalassemia patients, because the consequences of supportive treatments are not sufficient for patients and their families. Supportive treatment does not have a positive effect on the survival rate of β-thalassemia patients. New treatments are empowering to develop develop a gene therapy for β-thalassemia and include pharmacological or disruption of BCL11A erythroid enhancer by CRISPR-CAS9 technology in addition to zinc-finger or transcription activator-like effector nuclease, and attempts at repairing the defective β-globin gene in hematopoietic stem cells by genome editing. These approaches are needed to improve for being more successful; gene addition has the advantage of making use of a single product applicable to all cases of β-thalassemia.
{"title":"The Genetic Aspect of Thalassemia: From Diagnosis to Treatment","authors":"Özgür Aldemir","doi":"10.5772/INTECHOPEN.76496","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.76496","url":null,"abstract":"Hemoglobinopathies are a group of red blood cell productivity disorders, including α-thalassemia, β-thalassemia, and sickle cell disease (SCD), that are autosomal recessive and very common in Mediterranean, Middle Eastern, East Asian, and African countries. Thalassemia presents with the following clinical signs and symptoms: fatigue, weakness, yellowish skin, facial bone deformities, and abdominal swelling. Genetic studies have successfully characterized the key variants and pathways involved in hemoglobin F (HbF) regulation, providing new therapeutic targets for HbF reactivation. According to the current literature, using lentivirus vector for gene therapy and genome-editing-based treatment strategies for β-thalassemia and SCD have been discussed and well documented. According to current studies, novel treatments are becoming more important for thalassemia patients, because the consequences of supportive treatments are not sufficient for patients and their families. Supportive treatment does not have a positive effect on the survival rate of β-thalassemia patients. New treatments are empowering to develop develop a gene therapy for β-thalassemia and include pharmacological or disruption of BCL11A erythroid enhancer by CRISPR-CAS9 technology in addition to zinc-finger or transcription activator-like effector nuclease, and attempts at repairing the defective β-globin gene in hematopoietic stem cells by genome editing. These approaches are needed to improve for being more successful; gene addition has the advantage of making use of a single product applicable to all cases of β-thalassemia.","PeriodicalId":354931,"journal":{"name":"Thalassemia and Other Hemolytic Anemias","volume":"8 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126459114","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}
Pub Date : 2018-07-11DOI: 10.5772/INTECHOPEN.75570
Ebru Dündar Yenilmez, A. Tuli
Thalassemia is a significant health problem worldwide. There are two main classifica - tions, α- and β-thalassemias, which are usually caused by the defective synthesis of the α-globin, and which are commonly caused by different mutations of the β-globin chain. Different hemoglobin mutations have been identified to date. Thalassemias can result in profound anemia from early life and, if not treated with regular blood transfusions, can lead to death in the first year. Prenatal diagnosis of thalassemia is the essential part of preventive medicine and is currently dependent on the use of invasive diagnostic tests within the first 2 months of pregnancy. These diagnostic techniques carry a small but sig nificant risk of fetal loss up to 1%. Molecular diagnostic methods have been developed for genotyping thalassemias based on PCR techniques and high-throughput technologies. Noninvasive tests using cell-free DNA (cfDNA) from a maternal blood sample is also an alternative method, thus eliminating the risk of miscarriage. This chapter summarizes the current invasive approaches and the noninvasive methods using cell-free fetal DNA as new molecular diagnostic methods for genotypic diagnosis of thalassemia in clinical practice. Prevention strategies that encompass carrier screening, genetic counseling, and prenatal diagnosis are discussed.
{"title":"Invasive and Noninvasive Approaches in Prenatal Diagnosis of Thalassemias","authors":"Ebru Dündar Yenilmez, A. Tuli","doi":"10.5772/INTECHOPEN.75570","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.75570","url":null,"abstract":"Thalassemia is a significant health problem worldwide. There are two main classifica - tions, α- and β-thalassemias, which are usually caused by the defective synthesis of the α-globin, and which are commonly caused by different mutations of the β-globin chain. Different hemoglobin mutations have been identified to date. Thalassemias can result in profound anemia from early life and, if not treated with regular blood transfusions, can lead to death in the first year. Prenatal diagnosis of thalassemia is the essential part of preventive medicine and is currently dependent on the use of invasive diagnostic tests within the first 2 months of pregnancy. These diagnostic techniques carry a small but sig nificant risk of fetal loss up to 1%. Molecular diagnostic methods have been developed for genotyping thalassemias based on PCR techniques and high-throughput technologies. Noninvasive tests using cell-free DNA (cfDNA) from a maternal blood sample is also an alternative method, thus eliminating the risk of miscarriage. This chapter summarizes the current invasive approaches and the noninvasive methods using cell-free fetal DNA as new molecular diagnostic methods for genotypic diagnosis of thalassemia in clinical practice. Prevention strategies that encompass carrier screening, genetic counseling, and prenatal diagnosis are discussed.","PeriodicalId":354931,"journal":{"name":"Thalassemia and Other Hemolytic Anemias","volume":"24 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130335386","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}
Pub Date : 2018-07-11DOI: 10.5772/INTECHOPEN.74778
Karen Cordovil
Sickle cell disease (SCD) is a structural and monogenetic genetic disorder due to a mutation that occurs in the globin β-chain, resulting in the formation of hemoglobin S (Hb S), a protein composed of two normal, and two β-type mutant chains. Estimates indicate that the prevalence among live births is 4.4% in the world. The difficulty in circulating the sickle cell, its interaction with endothelial cells, leukocytes, platelets, endothelial dysfunction, and the abnormal expression of adhesion molecules permeate the beginning of the blood vessel occlusion process as well as pathophysiological aspects of SCD. Among the secondary complications are the stroke, pulmonary hypertension, leg ulcer, renal disorders, and all complications associated with vascular dysfunction. Clinical and biochemical markers of disease severity can be used to predict risk, prevent complications, and increase the expectation and quality of life of the SCD population. The entire scenario generated by Hb S has implications for the health and social inclusion of patients, so the treatment of the person with SCD needs an approach focused on the prevention of these complications in an individualized way.
{"title":"Sickle Cell Disease: A Genetic Disorder of Beta-Globin","authors":"Karen Cordovil","doi":"10.5772/INTECHOPEN.74778","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.74778","url":null,"abstract":"Sickle cell disease (SCD) is a structural and monogenetic genetic disorder due to a mutation that occurs in the globin β-chain, resulting in the formation of hemoglobin S (Hb S), a protein composed of two normal, and two β-type mutant chains. Estimates indicate that the prevalence among live births is 4.4% in the world. The difficulty in circulating the sickle cell, its interaction with endothelial cells, leukocytes, platelets, endothelial dysfunction, and the abnormal expression of adhesion molecules permeate the beginning of the blood vessel occlusion process as well as pathophysiological aspects of SCD. Among the secondary complications are the stroke, pulmonary hypertension, leg ulcer, renal disorders, and all complications associated with vascular dysfunction. Clinical and biochemical markers of disease severity can be used to predict risk, prevent complications, and increase the expectation and quality of life of the SCD population. The entire scenario generated by Hb S has implications for the health and social inclusion of patients, so the treatment of the person with SCD needs an approach focused on the prevention of these complications in an individualized way.","PeriodicalId":354931,"journal":{"name":"Thalassemia and Other Hemolytic Anemias","volume":"33 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121353348","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}
Pub Date : 2018-07-11DOI: 10.5772/INTECHOPEN.75695
Lingwen Zeng, Luxin Yu, Yinghui Zhang
Isothermal nucleic acid amplification is a simple process that rapidly and efficiently accumulates nucleic acid sequences at constant temperature such as 37 and 42°C. Isothermal nucleic acid amplification approach offers several advantages over temperature circle methods (such as PCR) including rapid assay results, cost-effectiveness, and portability. Two detection approaches based on circular strand-displacement polymerization reaction (CSDPR) were presented in this chapter for sensitive and specific thalassemia gene detection. One is a lateral flow strip biosensor based on CSDPR for semi-quantitative detection of thalassemia DNA. The other is a spectrophotometric DNA detection approach based on CSDPR for quantitative detection of thalassemia DNA.
{"title":"Emerging Techniques for Thalassemia Gene Detection","authors":"Lingwen Zeng, Luxin Yu, Yinghui Zhang","doi":"10.5772/INTECHOPEN.75695","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.75695","url":null,"abstract":"Isothermal nucleic acid amplification is a simple process that rapidly and efficiently accumulates nucleic acid sequences at constant temperature such as 37 and 42°C. Isothermal nucleic acid amplification approach offers several advantages over temperature circle methods (such as PCR) including rapid assay results, cost-effectiveness, and portability. Two detection approaches based on circular strand-displacement polymerization reaction (CSDPR) were presented in this chapter for sensitive and specific thalassemia gene detection. One is a lateral flow strip biosensor based on CSDPR for semi-quantitative detection of thalassemia DNA. The other is a spectrophotometric DNA detection approach based on CSDPR for quantitative detection of thalassemia DNA.","PeriodicalId":354931,"journal":{"name":"Thalassemia and Other Hemolytic Anemias","volume":"21 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114828878","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}
Pub Date : 2018-07-11DOI: 10.5772/INTECHOPEN.73862
A. Albu, D. Albu
Beta thalassemia is the most frequent hemoglobinopathy worldwide. In patients with beta thalassemia major (BTM), the consequence of long-term life-saving transfusions is iron overload in liver, heart and endocrine glands. Hypogonadotropic hypogonadism is the most frequent endocrine complication. Recent progresses in the treatment of BTM dra-matically improved life expectancy and quality of life of these patients, making the con- cern for fertility and pregnancy to gain importance. Therefore, we performed a review of the available data regarding hypogonadism in female patients with BTM. We found that hypogonadotropic hypogonadism is still frequently found in female patients with BTM. Pituitary iron overload seems to be the main factor contributing to hypogonadism occur- rence, although iron-related damage of the ovaries and the genital tract cannot be excluded. The increased oxidative stress observed in BTM patients was hypothesized as a contributor to pituitary-gonadal dysfunction. Hypogonadism has significant consequences on quality of life, final height, bone health and fertility of the patients. Estro- progestative administration is essential in order to minimize consequences, although the best treatment regimen should be carefully weighted in each patient. Although spontane- ous fertility is reduced by the presence of hypogonadism, it seems that ovulation-induc-tion treatment with gonadotropins is effective in achieving pregnancies in majority of patients.
{"title":"Hypogonadism in Female Patients with Beta Thalassemia Major","authors":"A. Albu, D. Albu","doi":"10.5772/INTECHOPEN.73862","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.73862","url":null,"abstract":"Beta thalassemia is the most frequent hemoglobinopathy worldwide. In patients with beta thalassemia major (BTM), the consequence of long-term life-saving transfusions is iron overload in liver, heart and endocrine glands. Hypogonadotropic hypogonadism is the most frequent endocrine complication. Recent progresses in the treatment of BTM dra-matically improved life expectancy and quality of life of these patients, making the con- cern for fertility and pregnancy to gain importance. Therefore, we performed a review of the available data regarding hypogonadism in female patients with BTM. We found that hypogonadotropic hypogonadism is still frequently found in female patients with BTM. Pituitary iron overload seems to be the main factor contributing to hypogonadism occur- rence, although iron-related damage of the ovaries and the genital tract cannot be excluded. The increased oxidative stress observed in BTM patients was hypothesized as a contributor to pituitary-gonadal dysfunction. Hypogonadism has significant consequences on quality of life, final height, bone health and fertility of the patients. Estro- progestative administration is essential in order to minimize consequences, although the best treatment regimen should be carefully weighted in each patient. Although spontane- ous fertility is reduced by the presence of hypogonadism, it seems that ovulation-induc-tion treatment with gonadotropins is effective in achieving pregnancies in majority of patients.","PeriodicalId":354931,"journal":{"name":"Thalassemia and Other Hemolytic Anemias","volume":"59 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126408401","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}
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