Pub Date : 2024-04-18DOI: 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
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...
{"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}
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 ...
{"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}
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...
{"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}
Pub Date : 2024-04-16DOI: 10.1080/03630269.2024.2338850
Nada Assaf, Roba El Zibaoui, Carla Monsef, Tania Abi Nassif, Miguel Abboud, Soha Yazbek
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...
{"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}
Pub Date : 2024-04-14DOI: 10.1080/03630269.2024.2337769
Nicki Chin, Monika Asnani
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...
{"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}
Pub Date : 2024-04-02DOI: 10.1080/03630269.2024.2335933
Johanne Kodal Breinholt, Andreas Glenthøj, Mustafa Vakur Bor
Hemoglobin (Hb) Volga is a rare, unstable β-chain hemoglobin variant (β27 Ala→Asp), causing chronic hemolytic anemia. This study presents two members of a Danish family, splenectomized due to Hb Vo...
血红蛋白（Hb）Volga是一种罕见的不稳定β链血红蛋白变异体（β27 Ala→Asp），可导致慢性溶血性贫血。本研究介绍了一个丹麦家庭中的两名成员，他们因 Hb Volga 基因变异而被切除脾脏。
{"title":"Thrombosis Tendency After Splenectomy in a Danish Family With Hemoglobin Volga, and a Literature Review","authors":"Johanne Kodal Breinholt, Andreas Glenthøj, Mustafa Vakur Bor","doi":"10.1080/03630269.2024.2335933","DOIUrl":"https://doi.org/10.1080/03630269.2024.2335933","url":null,"abstract":"Hemoglobin (Hb) Volga is a rare, unstable β-chain hemoglobin variant (β27 Ala→Asp), causing chronic hemolytic anemia. This study presents two members of a Danish family, splenectomized due to Hb Vo...","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"45 22 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140575888","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}
Pub Date : 2024-04-02DOI: 10.1080/03630269.2024.2325456
Najmaddin S. H. Khoshnaw, Jawhar J. Omar, Zahir S. Hussein, Rebar N. Mohammed
Thalassemia major is one of the health problems in Iraq, especially in Kurdistan. Pre-marriage mandatory preventive screening program was established in Kurdistan in 2008, which allowed us to study...
{"title":"Premarital Screening is Pivotal in Reducing the Births of Babies Affected with Thalassemia Major in Iraq","authors":"Najmaddin S. H. Khoshnaw, Jawhar J. Omar, Zahir S. Hussein, Rebar N. Mohammed","doi":"10.1080/03630269.2024.2325456","DOIUrl":"https://doi.org/10.1080/03630269.2024.2325456","url":null,"abstract":"Thalassemia major is one of the health problems in Iraq, especially in Kurdistan. Pre-marriage mandatory preventive screening program was established in Kurdistan in 2008, which allowed us to study...","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"20 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140575896","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}
Pub Date : 2024-04-02DOI: 10.1080/03630269.2024.2328220
John S. Waye, Meredith Hanna, Betty-Ann Hohenadel, Lisa Nakamura, Lynda Walker, Barry Eng, Landry E. Nfonsam
Newborn screening identified a Chinese-Canadian infant who was positive for possible β-thalassemia (β-thal). Detailed family studies demonstrated that the proband was a compound heterozygote for th...
{"title":"Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation (HBB:c.336dup)","authors":"John S. Waye, Meredith Hanna, Betty-Ann Hohenadel, Lisa Nakamura, Lynda Walker, Barry Eng, Landry E. Nfonsam","doi":"10.1080/03630269.2024.2328220","DOIUrl":"https://doi.org/10.1080/03630269.2024.2328220","url":null,"abstract":"Newborn screening identified a Chinese-Canadian infant who was positive for possible β-thalassemia (β-thal). Detailed family studies demonstrated that the proband was a compound heterozygote for th...","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"67 1","pages":""},"PeriodicalIF":1.0,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140576099","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}
Pub Date : 2024-03-01Epub Date: 2024-02-15DOI: 10.1080/03630269.2024.2314075
John S Waye, Meredith Hanna, Lisa Nakamura, Lynda Walker, Barry Eng, Landry E Nfonsam
We report a case of Hb S/β0-thalassemia (Hb S/β0-thal) in a patient who is a compound heterozygote for the Hb Sickle mutation (HBB:c.20A > T) and a mutation of the canonical splice acceptor sequence of IVS1 (AG > TG, HBB:c.93-2A > T). This is the fifth mutation involving the AG splice acceptor site of IVS1, all of which prevent normal splicing and cause β0-thal.
{"title":"Splice Acceptor Mutation [<i>HBB</i>:c.93-2A > T] in a Patient with Hb S/β<sup>0</sup>-Thalassemia.","authors":"John S Waye, Meredith Hanna, Lisa Nakamura, Lynda Walker, Barry Eng, Landry E Nfonsam","doi":"10.1080/03630269.2024.2314075","DOIUrl":"10.1080/03630269.2024.2314075","url":null,"abstract":"<p><p>We report a case of Hb S/β<sup>0</sup>-thalassemia (Hb S/β<sup>0</sup>-thal) in a patient who is a compound heterozygote for the Hb Sickle mutation (<i>HBB</i>:c.20A > T) and a mutation of the canonical splice acceptor sequence of IVS1 (AG > TG, <i>HBB</i>:c.93-2A > T). This is the fifth mutation involving the AG splice acceptor site of IVS1, all of which prevent normal splicing and cause β<sup>0</sup>-thal.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"116-117"},"PeriodicalIF":1.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139740874","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}
Pub Date : 2024-03-01Epub Date: 2024-02-23DOI: 10.1080/03630269.2024.2319733
Nasir Al-Allawi, Sulav D Atroshi, Regir K Sadullah, Adil Abozaid Eissa, Gernot Kriegshäuser, Shaima Al-Zebari, Shatha Qadir, Dilan Khalil, Christian Oberkanins
To assess the roles of genetic modifiers in Iraqi β-thalassemia patients, and determine whether a genotype-based scoring system could be used to predict phenotype, a total of 224 Iraqi patients with molecularly characterized homozygous or compound heterozygous β-thalassemia were further investigated for α-thalassemia deletions as well as five polymorphisms namely: rs7482144 C > T at HBG2, rs1427407 G > T and rs10189857 A > G at BCL11A, and rs28384513 A > C and rs9399137 T > C at HMIP. The enrolled patients had a median age of 14 years, with 96 males and 128 females. They included 144 thalassemia major, and 80 thalassemia intermedia patients. Multivariate logistic regression analysis revealed that a model including sex and four of these genetic modifiers, namely: β+ alleles, HBG2 rs7482144, α-thalassemia deletions, and BCL11A rs1427407 could significantly predict phenotype (major versus intermedia) with an overall accuracy of 83.9%. Furthermore, a log odds genetic score based on these significant predictors had a highly significant area under curve of 0.917 (95% CI 0.882-0.953). This study underscores the notion that genetic scoring systems should be tailored to populations in question, since genetic modifiers (and/or their relative weight) vary between populations. The population-oriented genetic scoring system created by the current study to predict β-thalassemia phenotype among Iraqis may pave the way to personalized medicine in this patient's group.
为了评估遗传修饰因子在伊拉克β地中海贫血症患者中的作用，并确定基于基因型的评分系统是否可用于预测表型，我们对 224 名分子特征为同型或复合杂合型β地中海贫血症的伊拉克患者进行了α地中海贫血症缺失和五种多态性的进一步研究，这五种多态性分别是：HBG2 的 rs7482144 C > T、BCL11A 的 rs1427407 G > T 和 rs10189857 A > G、BCL11A 的 rs28384513 A > G 和 rs28384513 A > G：HBG2 的 rs7482144 C > T、BCL11A 的 rs1427407 G > T 和 rs10189857 A > G 以及 HMIP 的 rs28384513 A > C 和 rs9399137 T > C。入组患者的中位年龄为 14 岁，其中男性 96 人，女性 128 人。其中包括 144 名重型地中海贫血患者和 80 名中型地中海贫血患者。多变量逻辑回归分析表明，一个包括性别和四种遗传修饰因子（即：β+等位基因、HBG2 rs7482144、α-地中海贫血缺失和 BCL11A rs1427407）的模型可以显著预测表型（重型与中型），总体准确率为 83.9%。此外，基于这些重要预测因子的对数几率遗传评分的曲线下面积为 0.917（95% CI 0.882-0.953），具有高度显著性。这项研究强调了一个观点，即基因评分系统应针对相关人群量身定制，因为不同人群的基因修饰因子（和/或其相对权重）各不相同。本研究为预测伊拉克人的β地中海贫血表型而创建的以人群为导向的基因评分系统可能会为该患者群体的个性化医疗铺平道路。
{"title":"A Population-Oriented Genetic Scoring System to Predict Phenotype: A Pathway to Personalized Medicine in Iraqis With β-Thalassemia.","authors":"Nasir Al-Allawi, Sulav D Atroshi, Regir K Sadullah, Adil Abozaid Eissa, Gernot Kriegshäuser, Shaima Al-Zebari, Shatha Qadir, Dilan Khalil, Christian Oberkanins","doi":"10.1080/03630269.2024.2319733","DOIUrl":"10.1080/03630269.2024.2319733","url":null,"abstract":"<p><p>To assess the roles of genetic modifiers in Iraqi β-thalassemia patients, and determine whether a genotype-based scoring system could be used to predict phenotype, a total of 224 Iraqi patients with molecularly characterized homozygous or compound heterozygous β-thalassemia were further investigated for α-thalassemia deletions as well as five polymorphisms namely: rs7482144 C > T at <i>HBG2</i>, rs1427407 G > T and rs10189857 A > G at <i>BCL11A,</i> and rs28384513 A > C and rs9399137 T > C at <i>HMIP.</i> The enrolled patients had a median age of 14 years, with 96 males and 128 females. They included 144 thalassemia major, and 80 thalassemia intermedia patients. Multivariate logistic regression analysis revealed that a model including sex and four of these genetic modifiers, namely: β<sup>+</sup> alleles, <i>HBG2</i> rs7482144, α-thalassemia deletions, and <i>BCL11A</i> rs1427407 could significantly predict phenotype (major versus intermedia) with an overall accuracy of 83.9%. Furthermore, a log odds genetic score based on these significant predictors had a highly significant area under curve of 0.917 (95% CI 0.882-0.953). This study underscores the notion that genetic scoring systems should be tailored to populations in question, since genetic modifiers (and/or their relative weight) vary between populations. The population-oriented genetic scoring system created by the current study to predict β-thalassemia phenotype among Iraqis may pave the way to personalized medicine in this patient's group.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"94-100"},"PeriodicalIF":1.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139930880","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}
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