Pub Date : 2021-12-10DOI: 10.3390/thalassrep12010001
Enric Sayas
Thalassemia Reports (ISSN: 2039-4365) was launched in 2011 and has become the premier peer-reviewed international medical journal devoted entirely to the study, diagnosis, and treatment of thalassemia [...]
{"title":"Publisher’s Note: Continued Publication of Thalassemia Reports by MDPI","authors":"Enric Sayas","doi":"10.3390/thalassrep12010001","DOIUrl":"https://doi.org/10.3390/thalassrep12010001","url":null,"abstract":"Thalassemia Reports (ISSN: 2039-4365) was launched in 2011 and has become the premier peer-reviewed international medical journal devoted entirely to the study, diagnosis, and treatment of thalassemia [...]","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"1 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2021-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48693522","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}
Thalassemia is an autosomal recessive disease that is common in Iraq with a prevalence of 35.7 per 100,000. It is the most common type of hereditary anemia registered in 2015. It is a life-threatening condition with many complications which if not managed could cause death in early age. This study aimed to assess the awareness of Iraqi people about thalassemia transmission and prevention and to find their source of information about the disease, as developing good awareness is the first and the most advantageous road to establish a successful prevention program. This cross-sectional study involved 417 participants who were from medical and non-medical fields. It was conducted as an online survey in addition to participants interview using a self-structured questionnaire which was tested for content and face validity, unidimensionality and test-retest reliability in a pilot study of 40 participants. Each participant who had heard about the disease was given a score (0-5) based on their knowledge: 68.8% of the people had heard about the disease previously, those had a mean score of 3 out of 5; 84% claimed that thalassemia is a noncommunicable disease which resembles the highest awareness aspect. The lowest one was about the preventability of the disease. Significant correlation was found between the score of awareness and the age. People awareness about thalassemia was relatively good. A control strategy should be directed to elevate the awareness level about thalassemia in the community with the application of the national program for thalassemia control.
{"title":"Thalassemia awareness among Iraqi people in 2018","authors":"M. Majid, M. Mutar, H. T. Hashim","doi":"10.4081/THAL.2020.8655","DOIUrl":"https://doi.org/10.4081/THAL.2020.8655","url":null,"abstract":"Thalassemia is an autosomal recessive disease that is common in Iraq with a prevalence of 35.7 per 100,000. It is the most common type of hereditary anemia registered in 2015. It is a life-threatening condition with many complications which if not managed could cause death in early age. This study aimed to assess the awareness of Iraqi people about thalassemia transmission and prevention and to find their source of information about the disease, as developing good awareness is the first and the most advantageous road to establish a successful prevention program. This cross-sectional study involved 417 participants who were from medical and non-medical fields. It was conducted as an online survey in addition to participants interview using a self-structured questionnaire which was tested for content and face validity, unidimensionality and test-retest reliability in a pilot study of 40 participants. Each participant who had heard about the disease was given a score (0-5) based on their knowledge: 68.8% of the people had heard about the disease previously, those had a mean score of 3 out of 5; 84% claimed that thalassemia is a noncommunicable disease which resembles the highest awareness aspect. The lowest one was about the preventability of the disease. Significant correlation was found between the score of awareness and the age. People awareness about thalassemia was relatively good. A control strategy should be directed to elevate the awareness level about thalassemia in the community with the application of the national program for thalassemia control.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"10 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2021-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43713596","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}
M. Dehshal, M. Angastiniotis, Sachiko Hosoya, Fatemeh Hashemi Bahremani, M. Namini, A. Eleftheriou
Thalassemia is one of the important challenges of the health system in Iran. Recently the medicinal drug of luspatercept and gene therapy have opened new horizons for thalassemia treatment. The present article aims to evaluate the attitude of thalassemics in Iran about the new treatments. In this research, data collection through the virtual space has been practiced. The patients were required to declare their opinion on the aforementioned treatments. Finally, 128 male and 204 female plus 1 who did not specify their gender answered the questions. The results showed that despite patients’ positive attitude towards new treatments, their treatment experiences as well as the expenses of the new treatment practices are cause of concern. Moreover, the social problems like unemployment among thalassemics place impact on their perspective about treatment changes. Based on the findings of the present research, providing patients with more information about new treatment regimen and making the their expenses compatible with the economic status of the developing countries would be effective in making the new treatments accessible to all eligible patients.
{"title":"Iranian patients’ attitudes to current and novel therapies: A patient directed survey","authors":"M. Dehshal, M. Angastiniotis, Sachiko Hosoya, Fatemeh Hashemi Bahremani, M. Namini, A. Eleftheriou","doi":"10.4081/thal.2021.9514","DOIUrl":"https://doi.org/10.4081/thal.2021.9514","url":null,"abstract":"Thalassemia is one of the important challenges of the health system in Iran. Recently the medicinal drug of luspatercept and gene therapy have opened new horizons for thalassemia treatment. The present article aims to evaluate the attitude of thalassemics in Iran about the new treatments. In this research, data collection through the virtual space has been practiced. The patients were required to declare their opinion on the aforementioned treatments. Finally, 128 male and 204 female plus 1 who did not specify their gender answered the questions. The results showed that despite patients’ positive attitude towards new treatments, their treatment experiences as well as the expenses of the new treatment practices are cause of concern. Moreover, the social problems like unemployment among thalassemics place impact on their perspective about treatment changes. Based on the findings of the present research, providing patients with more information about new treatment regimen and making the their expenses compatible with the economic status of the developing countries would be effective in making the new treatments accessible to all eligible patients.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"1 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70310692","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}
Patients with haemoglobin disorders, particularly β-thalassaemia or sickle cell disease (SCD) or combined forms, on account of their underlying disease pathology and associated (iron load mainly in the case of thalassaemia) co-morbidities are defined as high-risk individuals prone to develop more severe complications from coronavirus disease-2019 (COVID-19). Despite the fact that epidemiological evidence concerning severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) infection in these patients is currently limited across the world, it is expected that COVID-19 pandemic will have a very serious, negative impact on national economies, healthcare and social systems and consequently significant respective repercussions on the patients particularly chronic ones, and their families. Although this may be a temporary challenge in some countries of high HDI and robust health, public health and social infrastructures, this can be a long term challenge with serious to tragic consequences in countries particularly devoid of universally covered heath care systems. Thalassaemia International Federation (TIF) in this present paper summarises the key challenges as expressed byNonthe patients, their families and involved health care professionals themselves prior and consequent to COVID-19 pandemic, describes its response during the pandemic and expresses its position in support of its global patient community.
{"title":"Thalassaemia prior and consequent to COVID-19 pandemic. The perspective of Thalassaemia International Federation (TIF)","authors":"A. Eleftheriou, L. Cannon, M. Angastiniotis","doi":"10.4081/thal.2020.9138","DOIUrl":"https://doi.org/10.4081/thal.2020.9138","url":null,"abstract":"Patients with haemoglobin disorders, particularly β-thalassaemia or sickle cell disease (SCD) or combined forms, on account of their underlying disease pathology and associated (iron load mainly in the case of thalassaemia) co-morbidities are defined as high-risk individuals prone to develop more severe complications from coronavirus disease-2019 (COVID-19). Despite the fact that epidemiological evidence concerning severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) infection in these patients is currently limited across the world, it is expected that COVID-19 pandemic will have a very serious, negative impact on national economies, healthcare and social systems and consequently significant respective repercussions on the patients particularly chronic ones, and their families. Although this may be a temporary challenge in some countries of high HDI and robust health, public health and social infrastructures, this can be a long term challenge with serious to tragic consequences in countries particularly devoid of universally covered heath care systems. Thalassaemia International Federation (TIF) in this present paper summarises the key challenges as expressed byNonthe patients, their families and involved health care professionals themselves prior and consequent to COVID-19 pandemic, describes its response during the pandemic and expresses its position in support of its global patient community.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"10 1","pages":"1-5"},"PeriodicalIF":0.3,"publicationDate":"2020-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/thal.2020.9138","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47141739","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}
M. Dehshal, Sachiko Hosoya, Fatemeh Hashemi Bahremani, M. Namini, A. Eleftheriou
Coronavirus disease 2019 (COVID-19) has had and continues to have a significant medical, public health, social and economic impact on every society around the world. Some groups of chronic patients including thalassaemia and other haemoglobin disorders were considered from the beginning of the pandemic, as vulnerable and high risk ones with regards to a more severe clinical outcome of the infection with severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2). This is because patients with thalassaemia can present with many and multiple co-morbidities including diabetes, heart, liver, endocrine and other conditions mainly secondary to iron overload and consequent to ineffective or suboptimal medical care and/or adherence to chelation treatment in particular. Transfusion dependent patients with β-thalassaemia have been greatly affected across the world, including in Iran, a country geographically situated in the so called thalassaemia belt. Iran with about 20,000 patients with β-thalassaemia and quite successful disease specific prevention and management national programmes faced challenges similar to others. Blood shortages for example consequent to COVID-19 precaution measures taken in every country to contain the virus and the difficulties in accessing drugs including lifesaving ones (iron chelation medication) constitute major challenges. In Iran however, and despite the multiple difficulties as described above, SARS-CoV-2 had a rather small impact regarding infection rates as compared to the rest of the countries, albeit a higher mortality rate reaching 26.5% amongst COVID-19 diagnosed patients. More comprehensive data however from a bigger number of patients with thalassaemia across the world infected with SARS-CoV- 2 is necessary to draw any reliable conclusions as to the level of vulnerability to SARS-CoV-2 and importantly the clinical impact of this virus in these patients.
{"title":"COVID-19 and Thalassaemia in Iran","authors":"M. Dehshal, Sachiko Hosoya, Fatemeh Hashemi Bahremani, M. Namini, A. Eleftheriou","doi":"10.4081/thal.2020.9157","DOIUrl":"https://doi.org/10.4081/thal.2020.9157","url":null,"abstract":"Coronavirus disease 2019 (COVID-19) has had and continues to have a significant medical, public health, social and economic impact on every society around the world. Some groups of chronic patients including thalassaemia and other haemoglobin disorders were considered from the beginning of the pandemic, as vulnerable and high risk ones with regards to a more severe clinical outcome of the infection with severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2). This is because patients with thalassaemia can present with many and multiple co-morbidities including diabetes, heart, liver, endocrine and other conditions mainly secondary to iron overload and consequent to ineffective or suboptimal medical care and/or adherence to chelation treatment in particular. Transfusion dependent patients with β-thalassaemia have been greatly affected across the world, including in Iran, a country geographically situated in the so called thalassaemia belt. Iran with about 20,000 patients with β-thalassaemia and quite successful disease specific prevention and management national programmes faced challenges similar to others. Blood shortages for example consequent to COVID-19 precaution measures taken in every country to contain the virus and the difficulties in accessing drugs including lifesaving ones (iron chelation medication) constitute major challenges. In Iran however, and despite the multiple difficulties as described above, SARS-CoV-2 had a rather small impact regarding infection rates as compared to the rest of the countries, albeit a higher mortality rate reaching 26.5% amongst COVID-19 diagnosed patients. More comprehensive data however from a bigger number of patients with thalassaemia across the world infected with SARS-CoV- 2 is necessary to draw any reliable conclusions as to the level of vulnerability to SARS-CoV-2 and importantly the clinical impact of this virus in these patients.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"1 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2020-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/thal.2020.9157","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41401126","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}
Hemoglobin (Hb) Ottawa [α15(A13)Gly>Arg], also known as Hb Siam, results from GGT>CGT mutation in codon 15 of either HBA1 or HBA2. Hb Ottawa carriers typically have normal hematology but when the variant is coinherited with either α or β thalassemia, microcytic red cell indices were observed. The percentage of variant detected using routine methodology was variable (14-33%), with a higher percentage found when co-inherited with an abnormal α-globin genotype. The case presented here involved an Indian male with microcytic red cell indices, who was heterozygous for Hb Ottawa (HBA2:c.46G>C) and β+ thalassemia (HBB:c.-138C>T). This case represents the first reported finding of Hb Ottawa in the Indian population, as well as the first time capillary zone electrophoresis (CZE) has been used to identify the variant. The abnormal red cell indices were attributed to co-inheritance of β+ thalassemia mutation (HBB:c.-138C>T), which alters binding of transcriptional factors to the HBB promoter and reduces transcription from the allele. The mild β+ thalassemia mutation has commonly been found in the Indian population.
血红蛋白(Hb) Ottawa [α15(A13)Gly>Arg]，也称为Hb Siam，是由HBA1或HBA2密码子15中的GGT>CGT突变引起的。Hb渥太华携带者通常血液学正常，但当变异与α或β地中海贫血共遗传时，观察到小红细胞指数。常规方法检测到的变异百分比各不相同(14-33%)，与异常α-珠蛋白基因型共同遗传时发现的变异百分比更高。本文报告的病例涉及一名患有小红细胞指数的印度男性，他是渥太华血红蛋白(HBA2: C . 46g >C)和β+地中海贫血(HBB: C .- 138c >T)的杂合子。该病例代表了在印度人群中首次报道的渥太华血红蛋白的发现，以及首次使用毛细管区带电泳(CZE)来识别该变异。异常红细胞指数归因于β+地中海贫血突变(HBB:c - 138c >T)的共遗传，该突变改变了转录因子与HBB启动子的结合，减少了等位基因的转录。轻度β+地中海贫血突变常见于印度人群。
{"title":"Hemoglobin Ottawa (HBA2:c.46G>C) and β+ thalassemia (HBB:c.-138C>T) detected in an Indian male by capillary zone electrophoresis","authors":"Beverley M. Pullon, Jordyn A Moore","doi":"10.4081/thal.2020.8733","DOIUrl":"https://doi.org/10.4081/thal.2020.8733","url":null,"abstract":"Hemoglobin (Hb) Ottawa [α15(A13)Gly>Arg], also known as Hb Siam, results from GGT>CGT mutation in codon 15 of either HBA1 or HBA2. Hb Ottawa carriers typically have normal hematology but when the variant is coinherited with either α or β thalassemia, microcytic red cell indices were observed. The percentage of variant detected using routine methodology was variable (14-33%), with a higher percentage found when co-inherited with an abnormal α-globin genotype. The case presented here involved an Indian male with microcytic red cell indices, who was heterozygous for Hb Ottawa (HBA2:c.46G>C) and β+ thalassemia (HBB:c.-138C>T). This case represents the first reported finding of Hb Ottawa in the Indian population, as well as the first time capillary zone electrophoresis (CZE) has been used to identify the variant. The abnormal red cell indices were attributed to co-inheritance of β+ thalassemia mutation (HBB:c.-138C>T), which alters binding of transcriptional factors to the HBB promoter and reduces transcription from the allele. The mild β+ thalassemia mutation has commonly been found in the Indian population.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2020-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/thal.2020.8733","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46259995","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}
Chronic transfusions program in β-thalassemia patients will inevitably lead to iron overload with a significant morbidity and mortality. Glomerular filtration rate (GFR) is progressively declined in relation to iron overload as well as chronic anemia. Objective is to define levels of Cystatin C in transfusion dependent β-thalassemia major patients as a sensitive marker for detection of earlier glomerular dysfunction in addition to understand the effect of iron overload, chelating therapy and hepatitis infection. A cross sectional study conducted at Al-Basrah Hemoglobinopathy Centre for the period from September 2017 to January 2018 to enroll 75 β-thalassemia major patients. Data collected included duration of the disease, total transfusion requirement, details of chelation therapy and its therapeutic index. In addition to blood urea, serum creatinine and Cystatin C with estimated GFR (eGFR). The mean Cystatin C was 1.075 mg/L where 66.6% of patients had abnormal renal function which is higher proportion than those with renal (42.6%) detected according to serum creatinine level Cystatin C was significantly higher in patients who received desferrioxamine as compared to those received deferasirox (P=0.007), in accordance with GFR which is significantly higher in patients receiving the latter chelation therapy (P=0.009). A significant inverse relationship between Cystatin C, and GFR, while positive relationship between ferritin and Cystatin C (P=0.0001, 0.001 respectively). Cyctatin C is better for detection and monitoring of glomerular dysfunction in B thalassemia major patient which is already not uncommon complications for the disease and iron chelation therapy.
{"title":"Earlier detection of glomerular dysfunction in β-thalassemia major patients","authors":"W. F. A. Tameemi, Zainab M. J. Altawry","doi":"10.4081/thal.2020.9007","DOIUrl":"https://doi.org/10.4081/thal.2020.9007","url":null,"abstract":"Chronic transfusions program in β-thalassemia patients will inevitably lead to iron overload with a significant morbidity and mortality. Glomerular filtration rate (GFR) is progressively declined in relation to iron overload as well as chronic anemia. Objective is to define levels of Cystatin C in transfusion dependent β-thalassemia major patients as a sensitive marker for detection of earlier glomerular dysfunction in addition to understand the effect of iron overload, chelating therapy and hepatitis infection. A cross sectional study conducted at Al-Basrah Hemoglobinopathy Centre for the period from September 2017 to January 2018 to enroll 75 β-thalassemia major patients. Data collected included duration of the disease, total transfusion requirement, details of chelation therapy and its therapeutic index. In addition to blood urea, serum creatinine and Cystatin C with estimated GFR (eGFR). The mean Cystatin C was 1.075 mg/L where 66.6% of patients had abnormal renal function which is higher proportion than those with renal (42.6%) detected according to serum creatinine level Cystatin C was significantly higher in patients who received desferrioxamine as compared to those received deferasirox (P=0.007), in accordance with GFR which is significantly higher in patients receiving the latter chelation therapy (P=0.009). A significant inverse relationship between Cystatin C, and GFR, while positive relationship between ferritin and Cystatin C (P=0.0001, 0.001 respectively). Cyctatin C is better for detection and monitoring of glomerular dysfunction in B thalassemia major patient which is already not uncommon complications for the disease and iron chelation therapy.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2020-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/thal.2020.9007","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42413744","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}
The Mindray 6800 Plus analyzer reports red cells (RBC) extended parameters, which represent the subsets of erythrocytes. We aimed to evaluate the reliability of RBC extended parameters in the differential diagnosis of microcytic anemia. The learning set comprised samples from 250 patients with microcytic anemia mean cell volume <80 fL. MH ratio (%microcytic cells/%hypochromic cells) and other discriminant functions were calculated. Optimal cut offs were established using receiver operator curves. This value was used in the validation set of 135 patients 50 carriers and 85 with mild iron deficiency anemia (IDA). Area under the curve 0.945 (95% confidence interval 0.890 to 0.977), cut off >10 rendered the best Youden index (0.798), sensitivity 93.2%, specificity 86.2%. In the validation set using MH ratio >10, 45 in 50 patients were correctly classified as carriers. All of 40 beta carriers were correctly classified, while the 5 false negatives resulted to be alpha carriers. In the IDA group 5 patients had MH ratio >10 and thus considered carriers, but all of them had Hyper <3%. The combination of MH ratio >10 and %Hyper <3% correctly classified 100% of IDA patients. An algorithm derived from RBC extended parameters provided by the Mindray 6800 Plus analyzer could be a useful tool in the differential diagnosis of microcytic anemia.
{"title":"Discriminant value of %microcytic cells/%hypochromic cells ratio in the differential diagnosis of microcytic anemia","authors":"E. Urrechaga","doi":"10.4081/thal.2020.8388","DOIUrl":"https://doi.org/10.4081/thal.2020.8388","url":null,"abstract":"The Mindray 6800 Plus analyzer reports red cells (RBC) extended parameters, which represent the subsets of erythrocytes. We aimed to evaluate the reliability of RBC extended parameters in the differential diagnosis of microcytic anemia. The learning set comprised samples from 250 patients with microcytic anemia mean cell volume <80 fL. MH ratio (%microcytic cells/%hypochromic cells) and other discriminant functions were calculated. Optimal cut offs were established using receiver operator curves. This value was used in the validation set of 135 patients 50 carriers and 85 with mild iron deficiency anemia (IDA). Area under the curve 0.945 (95% confidence interval 0.890 to 0.977), cut off >10 rendered the best Youden index (0.798), sensitivity 93.2%, specificity 86.2%. In the validation set using MH ratio >10, 45 in 50 patients were correctly classified as carriers. All of 40 beta carriers were correctly classified, while the 5 false negatives resulted to be alpha carriers. In the IDA group 5 patients had MH ratio >10 and thus considered carriers, but all of them had Hyper <3%. The combination of MH ratio >10 and %Hyper <3% correctly classified 100% of IDA patients. An algorithm derived from RBC extended parameters provided by the Mindray 6800 Plus analyzer could be a useful tool in the differential diagnosis of microcytic anemia.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"10 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2020-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/thal.2020.8388","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42881971","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}
Ahmad Shoujaa, Yasser Mukhalalaty, Hossam Murad, F. Al-Quobaili
Beta thalassemia (β-thal) is one of the most common worldwide inherited hemoglobinopathies. Proper identification and diagnosis of hemoglobin (Hb) variants provide a major challenge. In this report, we describe a 1-year-old boy, presented with the diagnosis of β-TM (beta thalassemia major), has received regular blood transfusions. The molecular analysis revealed the presence of rare Hb Castilla [Beta 32(B14) Leu>Arg; HBB: c.98T>G] variant associated with β0 [IVS-I-1 (G>A); AG^GTTGGT>AGATTGGT beta0] (HBB:c.92+1G>A) Mutation in beta-globin (β-globin) gene. To our knowledge, this is the first report of Hb Castilla [Beta 32(B14) Leu>Arg] in ExonII of β-globin gene which were found in Syrian male proband. However, we should investigate abnormal hemoglobins in patients with beta thalassemia to determine whether they have involvement with β-thalassemia mutations in the clinical case of the patients or not.
{"title":"A first case of hemoglobin Castilla [Beta 32(B14) Leu>Arg; HBB: c.98T>G] associated with [IVS-I-1 (G>A); HBB:c.92+1G>A] mutation found in a Syrian betathalassemia patient","authors":"Ahmad Shoujaa, Yasser Mukhalalaty, Hossam Murad, F. Al-Quobaili","doi":"10.4081/thal.2020.8396","DOIUrl":"https://doi.org/10.4081/thal.2020.8396","url":null,"abstract":"Beta thalassemia (β-thal) is one of the most common worldwide inherited hemoglobinopathies. Proper identification and diagnosis of hemoglobin (Hb) variants provide a major challenge. In this report, we describe a 1-year-old boy, presented with the diagnosis of β-TM (beta thalassemia major), has received regular blood transfusions. The molecular analysis revealed the presence of rare Hb Castilla [Beta 32(B14) Leu>Arg; HBB: c.98T>G] variant associated with β0 [IVS-I-1 (G>A); AG^GTTGGT>AGATTGGT beta0] (HBB:c.92+1G>A) Mutation in beta-globin (β-globin) gene. To our knowledge, this is the first report of Hb Castilla [Beta 32(B14) Leu>Arg] in ExonII of β-globin gene which were found in Syrian male proband. However, we should investigate abnormal hemoglobins in patients with beta thalassemia to determine whether they have involvement with β-thalassemia mutations in the clinical case of the patients or not.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2020-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/thal.2020.8396","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49237297","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}
High levels of HbF may ameliorate the clinical course of β-thalassaemia and SCD. Hydroxyurea (HU) is the only HbF inducer approved for the treatment of patients. However not all patients respond to the treatment, for this reason it is noteworthy to identify new HbF inducers. Ruxolitinib is a JAK inhibitor that decreases the phosphorilation of STAT proteins. In particular STAT3 is a repressor of gamma-globin gene. The decrease of STAT3 phosphorilation could derepress gamma-globin gene and reactivate its trascription. In this study we evaluated the efficacy of ruxolitinib as inducer of HbF production. The analyses were performed in cultured erythroid progenitors from 16 beta-thalassemia intermedia (TI) and 4 sickle cell disease (SCD) patients. The use of quantitative RT-PCR technique allowed us to determine the increase of gamma-globin mRNA expression in human erythroid cultured cells treated with ruxolitinib. The results of our study demonstrated an increase in vitro of gamma-globin mRNA expression in almost all patients. These data suggest that ruxolitinib could be a good candidate to be used in vivo for the treatment of hemoglobinopathies.
{"title":"Efficacy of ruxolitinib as inducer of fetal hemoglobin in primary erythroid cultures from sickle cell and beta-thalassemia patients","authors":"A. Pecoraro, A. Troia, A. Maggio, R. Marzo","doi":"10.4081/thal.2019.8101","DOIUrl":"https://doi.org/10.4081/thal.2019.8101","url":null,"abstract":"High levels of HbF may ameliorate the clinical course of β-thalassaemia and SCD. Hydroxyurea (HU) is the only HbF inducer approved for the treatment of patients. However not all patients respond to the treatment, for this reason it is noteworthy to identify new HbF inducers. Ruxolitinib is a JAK inhibitor that decreases the phosphorilation of STAT proteins. In particular STAT3 is a repressor of gamma-globin gene. The decrease of STAT3 phosphorilation could derepress gamma-globin gene and reactivate its trascription. In this study we evaluated the efficacy of ruxolitinib as inducer of HbF production. The analyses were performed in cultured erythroid progenitors from 16 beta-thalassemia intermedia (TI) and 4 sickle cell disease (SCD) patients. The use of quantitative RT-PCR technique allowed us to determine the increase of gamma-globin mRNA expression in human erythroid cultured cells treated with ruxolitinib. The results of our study demonstrated an increase in vitro of gamma-globin mRNA expression in almost all patients. These data suggest that ruxolitinib could be a good candidate to be used in vivo for the treatment of hemoglobinopathies.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"1 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2019-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4081/thal.2019.8101","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44312801","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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