Hemoglobin最新文献_第6页

The Aplastic Crisis in HbSS: Observations from the Jamaican Birth Cohort. HbSS 的再生障碍性危机：牙买加出生队列的观察结果。

IF 1.2 4区医学

Hemoglobin Pub Date : 2024-07-01 Epub Date: 2024-09-23 DOI: 10.1080/03630269.2024.2407633

Beryl Elizabeth Serjeant, Karlene Mason, Marvin Reid, Ian Hambleton, Graham Roger Serjeant

{"title":"The Aplastic Crisis in HbSS: Observations from the Jamaican Birth Cohort.","authors":"Beryl Elizabeth Serjeant, Karlene Mason, Marvin Reid, Ian Hambleton, Graham Roger Serjeant","doi":"10.1080/03630269.2024.2407633","DOIUrl":"10.1080/03630269.2024.2407633","url":null,"abstract":"In order to document the prevalence, clinical features, hematology and outcome of the aplastic crisis in homozygous sickle cell disease (HbSS), a cohort study has been conducted from birth. Newborn screening of 100 000 deliveries at the main government maternity hospital, Kingston, Jamaica between 1973 and 1981 detected 311 cases of HbSS who have been followed at the Medical Research Council Laboratories at the University of the West Indies, Kingston, Jamaica. Clinically defined aplastic crises occurred in 118 (38%) patients at a median age of 7.5 years (range 0.5-23.0 years). All but one event seroconverted to parvovirus B19, the exception being a 9.3 year male with classic aplasia but subsequent IgG did not exceed 3 IU. Defined by zero reticulocyte counts, 94 patients presented with a median hemoglobin of 3.7 g/dL (range 18-87 g/L) representing a median fall from steady state levels of 3.8 g/dL. Clear epidemic peaks occurred at 1979-1980, 1984-1986, and 1990-1993 and the admission rate and use of blood cultures fell with each epidemic, reflecting increased familiarity with the complication. Symptoms were usually nonspecific and all but 7 were transfused. No patient had a recurrence and two died from aplasia (one with remote rural residence and the other following an incorrect diagnosis). Of those seroconverting to parvovirus B19, 68% manifested aplasia and 24% had no hematologic change. Correctly diagnosed and managed, the aplastic crisis is essentially benign. (230 words).","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"274-279"},"PeriodicalIF":1.2,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142285971","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

Identification of a Novel 16.8Kb Deletion of the α-Globin Gene Cluster by Third-Generation Sequencing. 通过第三代测序鉴定α-球蛋白基因簇的 16.8Kb 缺失。

IF 1.2 4区医学

Hemoglobin Pub Date : 2024-07-01 Epub Date: 2024-07-15 DOI: 10.1080/03630269.2024.2378078

Fan Jiang, Shuang Huang, Tuoen Liu, Jieyu Wang, Jianying Zhou, Liandong Zuo, Jian Li, Ru Li, Can Liao, Dongzhi Li

{"title":"Identification of a Novel 16.8Kb Deletion of the α-Globin Gene Cluster by Third-Generation Sequencing.","authors":"Fan Jiang, Shuang Huang, Tuoen Liu, Jieyu Wang, Jianying Zhou, Liandong Zuo, Jian Li, Ru Li, Can Liao, Dongzhi Li","doi":"10.1080/03630269.2024.2378078","DOIUrl":"10.1080/03630269.2024.2378078","url":null,"abstract":"α-thalassemia major (α-TM) often causes Hb Bart's (c4) hydrops fetalis and severe obstetric complications in the mother. Step-wise screening for couples at risk of having offspring(s) affected by α-TM is the efficient prevention method but some rare genotypes of thalassemia cannot be detected. A 32-year-old male with low HbA2 (2.4%) and mild anemia was performed real-time PCR-based multicolor melting curve analysis (MMCA) because his wife was -SEA deletion carrier. The result of multiplex ligation-dependent probe amplification (MLPA) suggested the existence of -SEA deletion in the proband. A novel deletion of the α-globin gene cluster was found using self-designed MLPA probes combined with longer PCR, which was further accurately described to be 16.8Kb (hg38, Chr16:1,65,236-1,82,113) deletion by the third-generation sequencing. A fragment ranging from 1,53,226 to 1,54,538(GRch38/hg38) was identified which suggested the existence of the homologous recombination event. The third-generation sequencing is accurate and efficient in obtaining accurate information for complex structural variations.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"244-249"},"PeriodicalIF":1.2,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141616189","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

Hemoglobin Oviedo (c.115A > G; p.T39A): A Cause of Low Oxygen Saturation. 血红蛋白奥维多（c.115A > G; p.T39A）：导致低氧饱和度的原因。

IF 1.2 4区医学

Hemoglobin Pub Date : 2024-05-01 Epub Date: 2024-08-02 DOI: 10.1080/03630269.2024.2382775

Luis Vega López, Alberto Medina, Helena Gil-Peña, Ariana Fonseca Mourelle, Jose Ramón Gutiérrez Martínez

引用次数: 0

Influence of Hemoglobin Strasbourg, a Rare High Oxygen Affinity Hemoglobin Variant, on Different Methods of HbA1c Measurement. 血红蛋白斯特拉斯堡（一种罕见的高氧亲和力血红蛋白变异体）对不同 HbA1c 测量方法的影响。

IF 1.2 4区医学

Hemoglobin Pub Date : 2024-05-01 Epub Date: 2024-08-05 DOI: 10.1080/03630269.2024.2360450

Marcus Wagner, Birgit Stoffel-Wagner, Berndt Zur

引用次数: 0

A Novel 165 Kb Duplication Involving the α-Globin Gene Cluster Is Identified by Low-Pass Whole Genome Sequencing in a Chinese Thalassemia Intermedia Patient. 通过低通滤波全基因组测序在一名中国地中海贫血症患者体内发现涉及α-球蛋白基因簇的 165 Kb 重复。

IF 1.2 4区医学

Hemoglobin Pub Date : 2024-05-01 DOI: 10.1080/03630269.2024.2346143

Xiaohong He, Peirun Tian, Lijuan Zhong, Shanshan Peng, Shiping Chen, Lei Pan, Yutao Du, Rui Zhang

{"title":"A Novel 165 Kb Duplication Involving the α-Globin Gene Cluster Is Identified by Low-Pass Whole Genome Sequencing in a Chinese Thalassemia Intermedia Patient.","authors":"Xiaohong He, Peirun Tian, Lijuan Zhong, Shanshan Peng, Shiping Chen, Lei Pan, Yutao Du, Rui Zhang","doi":"10.1080/03630269.2024.2346143","DOIUrl":"10.1080/03630269.2024.2346143","url":null,"abstract":"Copy number variations (CNVs) involving the α-globin gene cluster can lead to an imbalance in the proportion of α- and β-globin chains and consequently cause clinical symptoms of β-thalassemia. In our case, a 6-year-old boy, clinically diagnosed with β thalassemia intermedia, was admitted for further genetic diagnosis with his family. Targeted sequencing and third generation sequencing (TGS) were used to detect the possible variants of the thalassemia genes. Low-pass whole genome sequencing (lpWGS) was conducted to specify the exact location of relevant CNVs across the genome, which was then validated by multiplex ligation-dependent probe amplification.The results revealed that the patient had a heterozygous β0 mutation of Codon17 (A > T) and a full duplication of the α-globin gene cluster, inherited from his mother and father, respectively. Besides, a novel point mutation within the 5' untranslated region of β-Globin (HBB: c. -175 (G > A) was only detected in the patient. This study suggests that lpWGS seems a powerful alternative to detect large CNVs related to thalassemia with second intention for more information of the breakpoints and a simultaneous genome-scale detection of other pathogenic CNVs.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"203-208"},"PeriodicalIF":1.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140858485","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

Ameliorating Mental Health Issues in Sickle Cell Disease Patients: A Viewpoint. 改善镰状细胞病患者的心理健康问题：观点。

IF 1.2 4区医学

Hemoglobin Pub Date : 2024-05-01 Epub Date: 2024-09-27 DOI: 10.1080/03630269.2024.2356607

Ekta Rao, Deepika Patel, Nishant Saxena, Kalyan Brata Saha, Ravindra Kumar

引用次数: 0

A Novel Frameshift Mutation of HBB Causing Dominant β-Thalassemia in a Chinese Individual. 一种导致中国人显性β-地中海贫血的新型 HBB 框状位移突变

IF 1.2 4区医学

Hemoglobin Pub Date : 2024-05-01 Epub Date: 2024-08-05 DOI: 10.1080/03630269.2024.2376588

Cuili Yao, Long Chen, Jingting Ma, Na Li, Jiang Lin, Lina Huang, Yani Lin, Jun Xue

引用次数: 0

ATG-Thymoglobulin Versus ATG-Fresenius for Conditioning in Thalassemia Patients Who Underwent Allogenic Stem Cell Transplantation from Matched-Sibling Donor: A Tertiary Cancer Care Center Short-Term Experience. ATG-甲状腺球蛋白与 ATG-费森尤斯在接受配型同胞捐献者异基因干细胞移植的地中海贫血患者中的调节作用：一个三级癌症护理中心的短期经验。

IF 1.2 4区医学

Hemoglobin Pub Date : 2024-05-01 Epub Date: 2024-09-05 DOI: 10.1080/03630269.2024.2398244

Reema Singh, Rohan Halder, Vinayak Hemant Gupta, Sujay Rainchwar, Niharika Bhatia, Varsha Mishra, Tribikram Panda, Pritish Chandra Patra, Narendra Agrawal, Dinesh Bhurani

{"title":"ATG-Thymoglobulin Versus ATG-Fresenius for Conditioning in Thalassemia Patients Who Underwent Allogenic Stem Cell Transplantation from Matched-Sibling Donor: A Tertiary Cancer Care Center Short-Term Experience.","authors":"Reema Singh, Rohan Halder, Vinayak Hemant Gupta, Sujay Rainchwar, Niharika Bhatia, Varsha Mishra, Tribikram Panda, Pritish Chandra Patra, Narendra Agrawal, Dinesh Bhurani","doi":"10.1080/03630269.2024.2398244","DOIUrl":"10.1080/03630269.2024.2398244","url":null,"abstract":"Graft rejection and Graft-versus-host disease (GVHD) are some of the significant factors resulting in morbidity and mortality following allogeneic hematopoietic cell transplantation. Prophylaxis for GVHD using T-cell depleting agents is helpful in reducing the transplant-related mortality and graft rejection. Both tATG and fATG exhibit varied amounts of antibody specificities and perform distinct immunomodulatory effects, regardless of their capacity to deplete T-lymphocytes. We conducted this single-center, retrospective study at our center to compare both formulations. Twenty-six patients were included in the study, 13 in each cohort. The median age at diagnosis of β-thalassemia was 5 months (range, 3-12 months) in the tATG group and 6 months (range, 3-9 months) in the f-ATG group, respectively. Acute GVHD was observed in 1 (7.7) and 2(15.4) in the tATG and fATG group, respectively. No cases of chronic GVHD were observed in either group. There was no difference in the mixed chimerism observed at 6 months in both groups, tATG (n = 5, 38.5%) and fATG (n = 6, 46.15). There was 1 (7.6) rejection at day +72 observed in the tATG group, whereas no rejection was observed in the fATG group. At a mean follow-up duration of 288 days since transplant, there were no deaths in either of the groups. In conclusion, both ATG preparations showed equivalent effectiveness in preventing rejections and GVHD. However, further larger studies are required to establish the long-term efficacy and safety of both formulations in ASCT.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"186-191"},"PeriodicalIF":1.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142132578","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 Review of Gene Therapies for Hemoglobinopathies. 血红蛋白病基因疗法综述。

IF 1.2 4区医学

Hemoglobin Pub Date : 2024-05-01 Epub Date: 2024-08-15 DOI: 10.1080/03630269.2024.2369534

Boubini Jones-Wonni, Amar H Kelkar, Maureen O Achebe

{"title":"A Review of Gene Therapies for Hemoglobinopathies.","authors":"Boubini Jones-Wonni, Amar H Kelkar, Maureen O Achebe","doi":"10.1080/03630269.2024.2369534","DOIUrl":"10.1080/03630269.2024.2369534","url":null,"abstract":"Due to the significant morbidity and mortality of hemoglobinopathies, curative options have long been pursued. The overall goal of gene therapy is to modify a patient's own hematopoietic stem cells to overcome the deleterious effects of the underlying genetic defect by gene addition, gene editing, or gene silencing. Gene addition incorporates genes with superior function than the abnormal gene; gene editing takes advantage of molecular tools such as zinc finger proteins, Transcription Activator-Like Effector Nucleases and Clustered Regularly Interspaced Short Palindromic Repeats coupled with Cas9 proteins (CRISPR-Cas9) which allow for sequence-specific breaks in DNA that disrupt gene function; and gene silencing suppresses gene expression by interference with mRNA transcription/protein translation or epigenetic modification. The majority of gene therapy strategies for hemoglobinopathies have targeted erythroid-specific BCL11A, a major regulator of fetal hemoglobin repression at the gamma-globin locus, in the normal fetal-to-adult hemoglobin switch that occurs shortly after birth. Other goals have involved the incorporation of anti-sickling globins, such as βT87Q or βAS3. Landmark clinical trials of gene therapy in transfusion-dependent thalassemia and sickle cell disease have shown remarkable efficacy and acceptable safety and culminated in recent regulatory approvals of gene therapy for both diseases in Europe and the United States.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"141-152"},"PeriodicalIF":1.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141982154","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

Point-of-Care Newborn Screening for Sickle Cell Disease at Selected Health Facilities in the Gambia. 冈比亚选定医疗机构的新生儿镰状细胞病护理点筛查。

IF 1.2 4区医学

Hemoglobin Pub Date : 2024-05-01 Epub Date: 2024-07-09 DOI: 10.1080/03630269.2024.2369523

Samuel Ademola Adegoke, Lamin Makalo, Adama Sallah, Horeja Saine, Sheikh Joof, Amie Conteh, Ramatoulie Bah, Adji Fatou Camara Jammeh, Matthew Bass, Mamadou Jallow, Obiageli Eunice Nnodu

{"title":"Point-of-Care Newborn Screening for Sickle Cell Disease at Selected Health Facilities in the Gambia.","authors":"Samuel Ademola Adegoke, Lamin Makalo, Adama Sallah, Horeja Saine, Sheikh Joof, Amie Conteh, Ramatoulie Bah, Adji Fatou Camara Jammeh, Matthew Bass, Mamadou Jallow, Obiageli Eunice Nnodu","doi":"10.1080/03630269.2024.2369523","DOIUrl":"10.1080/03630269.2024.2369523","url":null,"abstract":"Sickle cell disease (SCD) contributes significantly to childhood morbidity and mortality in sub-Saharan Africa. Early diagnosis through newborn screening (NBS) and subsequent comprehensive follow-up care will reduce the burden. Up till now, the prevalence of SCD among newborns remains unknown in The Gambia and there is no national NBS programme to address this significant public health issue. We assessed the real-time frequency of SCD in the country and determined differences in the pattern of SCD phenotypes among different ethnic groups. A preliminary prospective feasibility study was done in eight purposively selected hospitals in the seven Health Administrative Regions and Banjul. Consecutive newborn babies delivered or managed in these facilities were screened using HemoTypeSC, a sensitive and specific ELISA-based point-of-care test (POCT). Babies identified as SCD with HemoTypeSC were retested at age ≥6 months using alkaline cellulose acetate hemoglobin electrophoresis (ACAE). Head-to-head comparison between HemoType screening and gold standard HPLC could not be done. 1,168 newborn babies were screened from April 14 to August 12, 2023. Fifteen (1.3%) had homozygous HbS (HbSS), two (0.2%) heterozygous for HbS and HbC (HbSC), 204 (17.5%) had sickle cell trait (HbAS), four (0.3%) heterozygous for HbA and HbC (HbAC), and 943 (80.7%) had normal hemoglobin (HbAA). The 17 with SCD (HbSS and HbSC) comprised of 7 (2.2%) of 324 Fula; 6 (1.4%) of 426 Mandinka; 2 (1.6%) of 125 Jola and 2 (1.3%) of 150 Wolof. Fourteen (82.4%) of the 17 accepted the diagnosis and were enrolled into the SCD program. For these 14, HemoTypeSC had 100% sensitivity with ACAE when repeated at age ≥6 months. In addition to determining the real-time newborn prevalence of SCD and trait in The Gambia for the first time, this pilot study showed that SCD-POCT is feasible in Gambian health facilities.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"169-174"},"PeriodicalIF":1.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141558587","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