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A Rare Case of De Novo Beta-Thalassemia Diagnosed by Whole-Genome Sequencing in an Ethnically Danish Newborn. 丹麦裔新生儿通过全基因组测序确诊新β-地中海贫血症的罕见病例
IF 1.2 4区 医学
Hemoglobin Pub Date : 2024-05-01 Epub Date: 2024-07-09 DOI: 10.1080/03630269.2024.2335919
Stefni Ravichandran, Marianne Hoffmann, Jesper Petersen, Lene Sjø, Andreas Ørslev Rasmussen, Annetta Eidesgaard, Andreas Glenthøj
{"title":"A Rare Case of <i>De Novo</i> Beta-Thalassemia Diagnosed by Whole-Genome Sequencing in an Ethnically Danish Newborn.","authors":"Stefni Ravichandran, Marianne Hoffmann, Jesper Petersen, Lene Sjø, Andreas Ørslev Rasmussen, Annetta Eidesgaard, Andreas Glenthøj","doi":"10.1080/03630269.2024.2335919","DOIUrl":"10.1080/03630269.2024.2335919","url":null,"abstract":"<p><p>In 2020, a 2-month-old ethnically Danish girl was diagnosed with β-thalassemia after presenting with persistent jaundice. The peripheral blood smear showed significant aniso- and poikilocytosis, increased number of reticulocytes and erythroblastosis. Trio analysis of the index patient and both parents was performed by whole-genome sequencing. Here, both parents were found normal, however the analysis revealed an apparently de novo <i>HBB:</i>c.444A > C variant in the child. The child has recently been discharged three months after a successful bone marrow transplantation with a matched sibling-donor.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"196-199"},"PeriodicalIF":1.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141558586","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Thalidomide and Hydroxyurea in Transfusion-Dependent Thalassemia: Efficacy, Safety Profile and Impact on Quality of Life. 沙利度胺和羟基脲治疗输血依赖型地中海贫血症：疗效、安全性和对生活质量的影响。
IF 1.2 4区 医学
Hemoglobin Pub Date : 2024-05-01 Epub Date: 2024-08-02 DOI: 10.1080/03630269.2024.2386076
Sukrita Bhattacharjee, Shouriyo Ghosh, Jyoti Shaw, Sunistha Bhattacharjee, Maitreyee Bhattacharyya
{"title":"Thalidomide and Hydroxyurea in Transfusion-Dependent Thalassemia: Efficacy, Safety Profile and Impact on Quality of Life.","authors":"Sukrita Bhattacharjee, Shouriyo Ghosh, Jyoti Shaw, Sunistha Bhattacharjee, Maitreyee Bhattacharyya","doi":"10.1080/03630269.2024.2386076","DOIUrl":"10.1080/03630269.2024.2386076","url":null,"abstract":"<p><p>Transfusion-dependent thalassemia (TDT) is a major public health concern in India, requiring regular transfusions for survival. There is also significant morbidity caused by iron overload and transfusion related infections. Novel therapies targeting fetal hemoglobin induction are the need of the hour in resource-poor institutions for patients where transplant is not feasible for various reasons. This single arm, non-randomised prospective trial evaluated the efficacy and safety of a combination of low dose thalidomide and hydroxyurea in TDT along with the impact on quality of life (QoL). It included 41 TDT patients, who failed a reasonable trial of hydroxyurea. Complete response (CR) was defined as transfusion independence and partial response (PR) denoted at least a 50% reduction in transfusion requirement. The rest were defined as non-responders (NR). The mean age of the cohort was 20.78 years (range 12-45 years). There were 13 males and 28 females. Nineteen (46.3%), 7 (17.1%), and 15 (36.6%) patients achieved CR, PR, and no response respectively. The overall response rate (CR + PR) was 63.4%. There was a significant increase in hemoglobin levels with decrement in transfusion burden and ferritin levels. There were no significant adverse reactions. No significant predictors of response were found including amongst genetic modifiers. It improved the health related QoL amongst responders. The combination of thalidomide and hydroxyurea appear safe and effective in the reduction in transfusion requirement of TDT patients. The judicious use of these drugs can improve the quality of life and pave the way for patients not eligible for a stem cell transplant.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"161-168"},"PeriodicalIF":1.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141874672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Secretory Phospholipase A2 Levels Are High in Women with Sickle Cell Disease and Menstruation-Induced Vaso-Occlusive Crises. 患有镰状细胞病和月经诱发血管闭塞性危象的女性体内分泌型磷脂酶 A2 水平较高。
IF 1.2 4区 医学
Hemoglobin Pub Date : 2024-05-01 Epub Date: 2024-07-03 DOI: 10.1080/03630269.2024.2371887
Lukman Ibrahim, Dalha Haliru Gwarzo, Aminu Abba Yusuf
{"title":"Secretory Phospholipase A2 Levels Are High in Women with Sickle Cell Disease and Menstruation-Induced Vaso-Occlusive Crises.","authors":"Lukman Ibrahim, Dalha Haliru Gwarzo, Aminu Abba Yusuf","doi":"10.1080/03630269.2024.2371887","DOIUrl":"10.1080/03630269.2024.2371887","url":null,"abstract":"<p><p>Menstruation-induced vaso-occlusive crisis (MIVOC) is a significant cause of morbidity in women with sickle cell disease (SCD). Secretory phospholipase A2 (sPLA2) is an inflammatory biomarker that is elevated in vaso-occlusive events such as acute chest syndrome (ACS), but its role in MIVOC is not previously studied. This study compared the serum level of sPLA2 among women with MIVOC and those without MIVOC. This is a comparative cross-sectional study. 354 women with SCD were screened for MIVOC using a structured questionnaire. sPLA2 levels were assayed using a standard ELISA while full blood counts were performed on an automated hematology analyzer. Data were analyzed using the SPSS software v26.0. Results were summarized as frequencies, percentages, and mean ± standard deviation. Variables were compared using the Student's t-test and Pearson's correlation. A <i>p</i>-value of <.05 was considered significant. The prevalence of MIVOC was 26.8%. Participants with MIVOC (<i>n</i> = 95) had significantly lower mean hemoglobin concentration (8.00 ± 2.03g/dL <i>vs.</i> 9.95 ± 4.15g/dL, <i>p</i> < .000), significantly higher mean platelets count (518.71 ± 84.58 × 10<sup>9</sup>/L <i>vs</i> 322.21 ± 63.80 × 10<sup>9</sup>/L, <i>p</i> < .000) and higher sPLA2 level (6.58 ± 1.94 IU <i>vs</i> 6.03 ± 0.42 IU, <i>p</i> = .008) compared to those without MIVOC (<i>n</i> = 95). Among participants with MIVOC, sPLA2 levels positively correlated with total white blood cell, absolute neutrophil, and lymphocyte counts. This study demonstrates that MIVOC is common among women with SCD and that the pathophysiology of MIVOC may have an inflammatory basis similar to that of ACS. The potential role of anti-inflammatory and antiplatelet agents in preventing and treating MIVOC may be explored.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"175-181"},"PeriodicalIF":1.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141497904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Characterization of Hemoglobin Malay Phenotypes in Tertiary Hospitals. 三级医院血红蛋白马来表型的特征。
IF 1.2 4区 医学
Hemoglobin Pub Date : 2024-05-01 Epub Date: 2024-09-23 DOI: 10.1080/03630269.2024.2380873
Alia Suzana Asri, Muhammad Hafiz Samsuddin, Norunaluwar Jalil, Norlida Mohamad Tahir, Hafizah Hashim, Raja Zahratul Azma, Ezalia Esa, Rinie Awai Albert, Hafiza Alauddin
{"title":"Characterization of Hemoglobin Malay Phenotypes in Tertiary Hospitals.","authors":"Alia Suzana Asri, Muhammad Hafiz Samsuddin, Norunaluwar Jalil, Norlida Mohamad Tahir, Hafizah Hashim, Raja Zahratul Azma, Ezalia Esa, Rinie Awai Albert, Hafiza Alauddin","doi":"10.1080/03630269.2024.2380873","DOIUrl":"10.1080/03630269.2024.2380873","url":null,"abstract":"<p><p>Hemoglobin (Hb) Malay is a common β hemoglobinopathy in Malaysia caused by A > G mutation in codon 19 leading to β+-thalassemia phenotype. However, screening for Hb Malay is challenging as it is undetectable by routine capillary electrophoresis (CE) or high-performance liquid chromatograpy (HPLC) methods. This study aimed to determine the Hb Malay phenotypes. The study was done on 521 cases with presumed β thalassemia from UKMMC and Hospital Selayang as well as confirmed Hb Malay cases from Hospital Sultanah Bahiyah, Kedah in over a 5-year period. Hb analysis using CE or HPLC followed by multiplex amplification refractory mutation system polymerase chain reaction and DNA sequencing were performed. Significant differences in mean values of haematological parameters among Hb Malay carriers against β thalassemia carriers were determined using one-way ANOVA and ROC analysis. A total of 482/521 cases of β globin mutations were identified. Among these, 54 Hb Malay cases were identified whereby 21 Hb Malay cases were from UKMMC and Hospital Selayang whilst 33 Hb Malay cases were from Hospital Sultanah Bahiyah, Kedah. Fifty-two were Hb Malay carriers whereas two cases were compound heterozygotes. The mean hemoglobin, mean cell volume, mean cell hemoglobin, and HbA of Hb Malay carriers were significantly higher than β° thalassemia carriers. The HbA<sub>2</sub> range of Hb Malay carriers was wider (3.5-5.5%) with median value of 3.9%. A new HbA<sub>2</sub> cutoff value ≤4.6% (AUC 0.717, <i>p</i> < 0.001) was proposed. Compound heterozygous Hb Malay/IVS1-5(G > C) showed transfusion-dependent thalassemia phenotype. Hb Malay carriers have different red cell and electrophoretic parameters than classical β° thalassemia carriers with wider HbA<sub>2</sub> range. HbA<sub>2</sub> of ≤4.6% should prompt a molecular confirmation for Hb Malay carrier status.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"153-160"},"PeriodicalIF":1.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142285969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Gene Therapies for Hemoglobinopathies: Promises and Challenges. 血红蛋白病的基因疗法：前景与挑战。
IF 1.2 4区 医学
Hemoglobin Pub Date : 2024-05-01 Epub Date: 2024-09-27 DOI: 10.1080/03630269.2024.2352163
Vivien Sheehan
{"title":"Gene Therapies for Hemoglobinopathies: Promises and Challenges.","authors":"Vivien Sheehan","doi":"10.1080/03630269.2024.2352163","DOIUrl":"10.1080/03630269.2024.2352163","url":null,"abstract":"","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"48 3","pages":"139-140"},"PeriodicalIF":1.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142345708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A New α1-Globin Variant, Hb Ormylia [HBA1:c.63C > G; p.His21Gln]. Report of Eleven Cases in Northern Greece 一种新的α1-球蛋白变异体 Hb Ormylia [HBA1:c.63C > G; p.His21Gln]。希腊北部 11 个病例的报告
IF 1 4区 医学
Hemoglobin Pub Date : 2024-04-18 DOI: 10.1080/03630269.2024.2339517
Maria Vousvouki, Evangelia-Eleni Delaki, Effrosyni Boutou, Eleni Yfanti, Genovefa Mantzou, Christina Karipidou, Athanasios Vyzantiadis, Athina Efstathiou, Maria Dimopoulou, Efthymia Vlachaki, Stamatia Theodoridou
{"title":"A New α1-Globin Variant, Hb Ormylia [HBA1:c.63C > G; p.His21Gln]. Report of Eleven Cases in Northern Greece","authors":"Maria Vousvouki, Evangelia-Eleni Delaki, Effrosyni Boutou, Eleni Yfanti, Genovefa Mantzou, Christina Karipidou, Athanasios Vyzantiadis, Athina Efstathiou, Maria Dimopoulou, Efthymia Vlachaki, Stamatia Theodoridou","doi":"10.1080/03630269.2024.2339517","DOIUrl":"https://doi.org/10.1080/03630269.2024.2339517","url":null,"abstract":"The first identification of a novel α1-Globin variant, Hb Ormylia in 11 Greeks originating from a small village, Ormylia, Chalkidiki, Greece is reported. The new genetic variant leads to the produc...","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"30 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140608816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Noninvasive Prenatal Diagnosis of SEA-Thalassemia by Combining 1000 Genomes Database and Relative Haplotype Dosage 结合 1000 基因组数据库和相对单倍型剂量对 SEA-Thalassemia 进行无创产前诊断
IF 1 4区 医学
Hemoglobin Pub Date : 2024-04-18 DOI: 10.1080/03630269.2024.2327830
Dewen Liu, Xuejuan Nong, Fengming Lai, Chen Nong, Taizhong Wang, Yulian Tang
{"title":"Noninvasive Prenatal Diagnosis of SEA-Thalassemia by Combining 1000 Genomes Database and Relative Haplotype Dosage","authors":"Dewen Liu, Xuejuan Nong, Fengming Lai, Chen Nong, Taizhong Wang, Yulian Tang","doi":"10.1080/03630269.2024.2327830","DOIUrl":"https://doi.org/10.1080/03630269.2024.2327830","url":null,"abstract":"To explore a noninvasive method for diagnosis of SEA-thalassemia and to investigate whether the regional factors affect the accuracy of this method. The method involved using a public database and ...","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"49 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140609062","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic Variants Associated with the Risk of Stroke in Sickle Cell Anemia: Systematic Review and Meta-Analysis 镰状细胞贫血症患者中风风险的相关基因变异：系统回顾与元分析
IF 1 4区 医学
Hemoglobin Pub Date : 2024-04-18 DOI: 10.1080/03630269.2024.2340685
Aradhana Kumari, Ganesh Chauhan, Partha Kumar Chaudhuri, Sushma Kumari, Anupa Prasad
{"title":"Genetic Variants Associated with the Risk of Stroke in Sickle Cell Anemia: Systematic Review and Meta-Analysis","authors":"Aradhana Kumari, Ganesh Chauhan, Partha Kumar Chaudhuri, Sushma Kumari, Anupa Prasad","doi":"10.1080/03630269.2024.2340685","DOIUrl":"https://doi.org/10.1080/03630269.2024.2340685","url":null,"abstract":"Sickle cell anemia (SCA) is the most common cause of stroke in children. As it is a rare disease, studies investigating the association with complications like stroke in SCD have small sample sizes...","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"41 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140626407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Severe Transfusion-Dependent Thalassemia in Compound Heterozygote Palestinian Siblings with Two α-Globin Gene Defects, Hb Taybe D HBA1: C.119_121delCCA Mutation and HBA2: C.*94A > G Mutation 具有两个 α-球蛋白基因缺陷（Hb Taybe D HBA1：C.119_121delCCA 突变和 HBA2：C.*94A > G 突变）的复合杂合子巴勒斯坦兄弟姐妹中的严重输血依赖型地中海贫血症
IF 1 4区 医学
Hemoglobin Pub Date : 2024-04-16 DOI: 10.1080/03630269.2024.2338850
Nada Assaf, Roba El Zibaoui, Carla Monsef, Tania Abi Nassif, Miguel Abboud, Soha Yazbek
{"title":"Severe Transfusion-Dependent Thalassemia in Compound Heterozygote Palestinian Siblings with Two α-Globin Gene Defects, Hb Taybe D HBA1: C.119_121delCCA Mutation and HBA2: C.*94A > G Mutation","authors":"Nada Assaf, Roba El Zibaoui, Carla Monsef, Tania Abi Nassif, Miguel Abboud, Soha Yazbek","doi":"10.1080/03630269.2024.2338850","DOIUrl":"https://doi.org/10.1080/03630269.2024.2338850","url":null,"abstract":"Alpha and Beta Thalassemia are autosomal recessive anemias that cause significant morbidity and mortality worldwide, especially in the Middle East and North Africa (MENA) region where carrier rates...","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"18 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2024-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140608800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Poor Sleep Quality in Jamaican Adults With Sickle Cell Disease: Prevalence, Risk Factors, and Association With Quality of Life 患有镰状细胞病的牙买加成年人睡眠质量差：患病率、风险因素及与生活质量的关系
IF 1 4区 医学
Hemoglobin Pub Date : 2024-04-14 DOI: 10.1080/03630269.2024.2337769
Nicki Chin, Monika Asnani
{"title":"Poor Sleep Quality in Jamaican Adults With Sickle Cell Disease: Prevalence, Risk Factors, and Association With Quality of Life","authors":"Nicki Chin, Monika Asnani","doi":"10.1080/03630269.2024.2337769","DOIUrl":"https://doi.org/10.1080/03630269.2024.2337769","url":null,"abstract":"Poor sleep and chronic illnesses have a bidirectional relationship where presence of one can worsen the other. Sickle cell disease (SCD) is associated with significant morbidity and early mortality...","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"177 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2024-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140576024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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