Hemoglobin最新文献_第8页

Thrombosis Tendency After Splenectomy in a Danish Family With Hemoglobin Volga, and a Literature Review 一个丹麦血红蛋白 Volga 家庭脾切除术后的血栓形成倾向及文献综述

IF 1 4区医学

Hemoglobin Pub Date : 2024-04-02 DOI: 10.1080/03630269.2024.2335933

Johanne Kodal Breinholt, Andreas Glenthøj, Mustafa Vakur Bor

引用次数: 0

Premarital Screening is Pivotal in Reducing the Births of Babies Affected with Thalassemia Major in Iraq 婚前筛查对减少伊拉克重型地中海贫血症婴儿的出生至关重要

IF 1 4区医学

Hemoglobin Pub Date : 2024-04-02 DOI: 10.1080/03630269.2024.2325456

Najmaddin S. H. Khoshnaw, Jawhar J. Omar, Zahir S. Hussein, Rebar N. Mohammed

引用次数: 0

Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation (HBB:c.336dup) 新生儿β-地中海贫血症筛查发现一种涉及新型β-球蛋白基因突变（HBB:c.336dup）的复杂基因型

IF 1 4区医学

Hemoglobin Pub Date : 2024-04-02 DOI: 10.1080/03630269.2024.2328220

John S. Waye, Meredith Hanna, Betty-Ann Hohenadel, Lisa Nakamura, Lynda Walker, Barry Eng, Landry E. Nfonsam

引用次数: 0

Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β⁰-Thalassemia. 一名 Hb S/β0 地中海贫血症患者的剪接受体突变 [HBB:c.93-2A > T]。

IF 1 4区医学

Hemoglobin Pub Date : 2024-03-01 Epub Date: 2024-02-15 DOI: 10.1080/03630269.2024.2314075

John S Waye, Meredith Hanna, Lisa Nakamura, Lynda Walker, Barry Eng, Landry E Nfonsam

引用次数: 0

A Population-Oriented Genetic Scoring System to Predict Phenotype: A Pathway to Personalized Medicine in Iraqis With β-Thalassemia. 预测表型的人群基因评分系统：伊拉克β-地中海贫血患者的个性化医疗之路。

IF 1 4区医学

Hemoglobin Pub Date : 2024-03-01 Epub Date: 2024-02-23 DOI: 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

{"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":"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.","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}

引用次数: 0

Early Onset of Severe Anemia Caused by Hb Calgary (HBB: C.194G > T): Another Case Report. 由 Hb Calgary（HBB：C.194G > T）引起的严重贫血早期发病：另一份病例报告。

IF 1 4区医学

Hemoglobin Pub Date : 2024-03-01 Epub Date: 2024-02-12 DOI: 10.1080/03630269.2024.2315188

Hua Jiang, Dong-Zhi Li

引用次数: 0

A New δ-Globin Gene Variant: Hb A2-Yulin [δ46(CD5)Gly→Arg,HBD: C.139G > A]. 一种新的δ-球蛋白基因变异：Hb A2-Yulin[δ46(CD5)Gly→Arg,HBD: C.139G > A]。

IF 1 4区医学

Hemoglobin Pub Date : 2024-03-01 Epub Date: 2024-03-07 DOI: 10.1080/03630269.2024.2325443

Hui-Ming Lin, Liang Liang, Yi-Jiao Cai, Li-Hong Zheng, Qing-Peng Qin, You-Qiong Li

引用次数: 0

The First Iranian Case of Unstable Hemoglobin Santa Ana. 伊朗首例血红蛋白不稳定病例，圣安娜。

IF 1 4区医学

Hemoglobin Pub Date : 2024-03-01 Epub Date: 2024-03-18 DOI: 10.1080/03630269.2024.2330554

Samin Alavi, Soha Mohammadimoghaddam, Hossein Najmabadi, Sina Maghsoudlou

引用次数: 0

Long Non-Coding RNA H19 Leads to Upregulation of γ-Globin Gene Expression during Erythroid Differentiation. 长非编码 RNA H19 在红细胞分化过程中导致γ-球蛋白基因表达上调

IF 1 4区医学

Hemoglobin Pub Date : 2024-01-01 Epub Date: 2024-02-29 DOI: 10.1080/03630269.2023.2284950

Dan Xie, Yuanyuan Han, Wenyi Zhang, Jiangfen Wu, Banquan An, Shengwen Huang, Fa Sun

{"title":"Long Non-Coding RNA H19 Leads to Upregulation of γ-Globin Gene Expression during Erythroid Differentiation.","authors":"Dan Xie, Yuanyuan Han, Wenyi Zhang, Jiangfen Wu, Banquan An, Shengwen Huang, Fa Sun","doi":"10.1080/03630269.2023.2284950","DOIUrl":"10.1080/03630269.2023.2284950","url":null,"abstract":"Long noncoding RNAs (lncRNAs) are important because they are involved in a variety of life activities and have many downstream targets. Moreover, there is also increasing evidence that some lncRNAs play important roles in the expression and regulation of γ-globin genes. In our previous study, we analyzed genetic material from nucleated red blood cells (NRBCs) extracted from premature and full-term umbilical cord blood samples. Through RNA sequencing (RNA-Seq) analysis, lncRNA H19 emerged as a differentially expressed transcript between the two blood types. While this discovery provided insight into H19, previous studies had not investigated its effect on the γ-globin gene. Therefore, the focus of our study was to explore the impact of H19 on the γ-globin gene. In this study, we discovered that overexpressing H19 led to a decrease in HBG mRNA levels during erythroid differentiation in K562 cells. Conversely, in CD34+ hematopoietic stem cells and human umbilical cord blood-derived erythroid progenitor (HUDEP-2) cells, HBG expression increased. Additionally, we observed that H19 was primarily located in the nucleus of K562 cells, while in HUDEP-2 cells, H19 was present predominantly in the cytoplasm. These findings suggest a significant upregulation of HBG due to H19 overexpression. Notably, cytoplasmic localization in HUDEP-2 cells hints at its potential role as a competing endogenous RNA (ceRNA), regulating γ-globin expression by targeting microRNA/mRNA interactions.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"4-14"},"PeriodicalIF":1.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139989884","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

Malaria Infection in Patients with Sickle Cell Disease in Nigeria: Association with Markers of Hyposplenism. 尼日利亚镰状细胞病患者的疟疾感染：与脾功能亢进标志物的关系。

IF 1 4区医学

Hemoglobin Pub Date : 2024-01-01 Epub Date: 2024-01-22 DOI: 10.1080/03630269.2023.2285881

Adama Isah Ladu, Mairo Usman Kadaura, Mohammed Dauda, Abubakar Sadiq Baba, Nasir Garba Zango, Caroline Jeffery, Abubakar Farate, Adekunle Adekile, Imelda Bates

{"title":"Malaria Infection in Patients with Sickle Cell Disease in Nigeria: Association with Markers of Hyposplenism.","authors":"Adama Isah Ladu, Mairo Usman Kadaura, Mohammed Dauda, Abubakar Sadiq Baba, Nasir Garba Zango, Caroline Jeffery, Abubakar Farate, Adekunle Adekile, Imelda Bates","doi":"10.1080/03630269.2023.2285881","DOIUrl":"10.1080/03630269.2023.2285881","url":null,"abstract":"Malaria is considered an important cause of morbidity and mortality among people living with sickle cell disease (SCD). This has partly been attributed to the loss of splenic function that occurs early in the disease process. We conducted a cross-sectional study and determined the frequency of malaria infection among SCD patients and explored the association with spleen's presence on ultrasonography and spleen function assessed using the frequency of Howell-Jolly bodies (HJBs). A total of 395 participants consisting of 119 acutely-ill SCD patients, 168 steady-state SCD controls, and 108 healthy non-SCD controls were studied. The prevalence of Plasmodium falciparum parasitemia was 51.3% in acutely-ill SCD patients, 31.7% in steady-state SCD controls, and 11.0% in the healthy non-SCD controls; however, the mean parasite density was significantly higher in the non-SCD controls compared to both SCD groups (p = 0.0001). Among the acutely-ill SCD patients, the prevalence of clinical malaria and severe malaria anemia were highest in children <5 years of age. The prevalence of parasitemia (p = 0.540) and parasite density (p = 0.975) showed no association with spleen presence or absence on ultrasonography. Similarly, the frequency of HJB red cells was not associated with the presence of parasitemia (p = 0.183). Our study highlights the frequency and role of malaria infection in acutely-ill SCD patients, especially in those younger than five years. Although we have found no evidence of an increased risk of malaria parasitemia or parasite density with markers of hyposplenism, the role played by an underlying immunity to malaria among SCD patients in malaria-endemic region is not clear and needs further studies.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"15-23"},"PeriodicalIF":1.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139512251","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