Hemoglobin最新文献_第9页

Hb Mizuho Case Report; Early Genomic Testing Facilitates a Life Changing Diagnosis. Hb Mizuho 病例报告；早期基因组检测有助于做出改变人生的诊断。

IF 1 4区医学

Hemoglobin Pub Date : 2024-01-01 Epub Date: 2024-01-10 DOI: 10.1080/03630269.2023.2301028

Olivia Elieff, Lesley Rawlings, Cuong Pham, Samantha Mihalopoulos, Denae Henry, Keryn Simons, Heather Tapp

引用次数: 0

Ethical and Clinical Considerations in the Use of Hydroxyurea in Pregnant Women with Sickle Cell Disease. 镰状细胞病孕妇使用羟基脲的伦理和临床考虑。

IF 1 4区医学

Hemoglobin Pub Date : 2024-01-01 Epub Date: 2024-02-07 DOI: 10.1080/03630269.2024.2310283

Gayatri Desai, Kapilkumar Dave, Sumeet Devare, Shrey Desai

引用次数: 0

Efficacy and Safety of a Dispersible Tablet of GPO-Deferasirox Monotherapy among Children with Transfusion-Dependent Thalassemia and Iron Overload. GPO-Deferasirox 单药分散片对输血依赖型地中海贫血和铁超载儿童的疗效和安全性。

IF 1 4区医学

Hemoglobin Pub Date : 2024-01-01 Epub Date: 2024-02-18 DOI: 10.1080/03630269.2024.2311360

Ampaiwan Chuansumrit, Duantida Songdej, Nongnuch Sirachainan, Praguywan Kadegasem, Pawaree Saisawat, Witaya Sungkarat, Ketsuda Kempka, Noppawan Tungbubpha

{"title":"Efficacy and Safety of a Dispersible Tablet of GPO-Deferasirox Monotherapy among Children with Transfusion-Dependent Thalassemia and Iron Overload.","authors":"Ampaiwan Chuansumrit, Duantida Songdej, Nongnuch Sirachainan, Praguywan Kadegasem, Pawaree Saisawat, Witaya Sungkarat, Ketsuda Kempka, Noppawan Tungbubpha","doi":"10.1080/03630269.2024.2311360","DOIUrl":"10.1080/03630269.2024.2311360","url":null,"abstract":"The study aimed to determine efficacy and safety of generic deferasirox monotherapy. Deferasirox was administered in transfusion-induced iron overloaded thalassemia. Efficacy was defined as responders and nonresponders by ≤ 15 reduced serum ferritin from baseline. Adverse events were also monitored. Fifty-two patients with mainly Hb E/β-thalassemia at the mean (SD) age of 8.7 (4.1) years, were enrolled. The mean (SD) daily transfusion iron load was 0.47 (0.1) mg/kg and maximum daily deferasirox was 35.0 (6.2) mg/kg. Altogether, 52, 40 and 18 patients completed the first, second and third years of study, respectively. The median baseline serum ferritin 2,383 ng/mL decreased to 1,478, 1,038 and 1,268 ng/mL at the end of first, second and third years, respectively, with overall response rate at 73.1% (38/52). Patients with baseline serum ferritin >2,500 ng/mL showed a change in serum ferritin higher than those ≤2,500 ng/mL starting from the 9th month of chelation. Adverse events were found in 5 of 52 patients (9.6%) including transaminitis (n = 2), one each of proteinuria, rash and proximal tubular dysfunction which resolved after transient stopping or decreasing the chelation dose. Generic deferasirox was effective and safe among pediatric patients with transfusion-induced iron overloaded thalassemia.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"47-55"},"PeriodicalIF":1.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139899710","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

First Report of Filipino β⁰-Thalassemia/β-Thalassemia in a Chinese Family. 在一个中国家庭中首次发现菲律宾人β0-地中海贫血症/β-地中海贫血症。

IF 1 4区医学

Hemoglobin Pub Date : 2024-01-01 Epub Date: 2024-01-09 DOI: 10.1080/03630269.2023.2301487

Meihuan Chen, Aixiang Lv, Siwen Zhang, Junhao Zheng, Min Zhang, Lingji Chen, Qianqian He, Jianlong Zhuang, Na Lin, Liangpu Xu, Hailong Huang

{"title":"First Report of Filipino β0-Thalassemia/β-Thalassemia in a Chinese Family.","authors":"Meihuan Chen, Aixiang Lv, Siwen Zhang, Junhao Zheng, Min Zhang, Lingji Chen, Qianqian He, Jianlong Zhuang, Na Lin, Liangpu Xu, Hailong Huang","doi":"10.1080/03630269.2023.2301487","DOIUrl":"10.1080/03630269.2023.2301487","url":null,"abstract":"A pregnant woman living in Fujian Province, southeastern China, presented due to a risk of having a baby with β-thalassemia major, during her second pregnancy, since she and her husband were suspected as β-thalassemia carriers and their affected daughter was a transfusion-dependent patient. Using the common α-thalassemia and β-thalassemia genotypes test, the pregnant woman was diagnosed as a β-thalassemia carrier with βIVS-2 - 654 (C→T)/βN genotype and her daughter had a homozygosity for IVS - 2 - 654 (C→T) mutation, however, no abnormalities were detected in her husband. SMRT identified a Filipino β0-deletion in her husband, and MLPA also revealed an unknown deletion in the HBB gene. Electrophoresis showed approximately 350 bp of the PCR product, and the β-Filipino genotype presented novel fracture fragments ranging from 5,112,884 to 5,231,358 bp, and lacked a 118,475 bp fragment relative to the wild-type sequence. The daughter was therefore diagnosed with the βIVS-2 - 654 (C→T)/βFilipino genotype. Prenatal diagnosis with umbilical cord blood at 27th week of gestation showed heteroztgosity for IVS - 2 - 654 (C→T) mutation in the fetus and continued pregnancy was recommended. In conclusion, we identified the Filipino β0-deletion in a Chinese family, from Fujian area, for the first time, during prenatal screening.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"34-38"},"PeriodicalIF":1.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139402538","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 6-Year Follow-up of a Chinese Child with Homozygous β⁰-Thalaasemia and a Heterozygous KLF1 Mutation. 一名患有同型β0-Thalaasemia和异型KLF1基因突变的中国儿童的6年随访。

IF 1 4区医学

Hemoglobin Pub Date : 2024-01-01 Epub Date: 2024-02-05 DOI: 10.1080/03630269.2024.2310804

Shao-Min Wu, Chan Li, Su-Ran Huang, Fan Jiang, Dong-Zhi Li

{"title":"A 6-Year Follow-up of a Chinese Child with Homozygous β0-Thalaasemia and a Heterozygous KLF1 Mutation.","authors":"Shao-Min Wu, Chan Li, Su-Ran Huang, Fan Jiang, Dong-Zhi Li","doi":"10.1080/03630269.2024.2310804","DOIUrl":"10.1080/03630269.2024.2310804","url":null,"abstract":"Patients with the genotype of β0/β0 for β-thalassemia (β-thal) usually behave as β-thal major (β-TM) phenotype which is transfusion-dependent. The pathophysiology of β-thal is the imbalance between α/β-globin chains. The degree of α/β-globin imbalance can be reduced by the more effective synthesis of γ-globin chains, and increased Hb F levels, modifying clinical severity of β-TM. We report a Chinese child who had homozygous β0-thal and a heterozygous KLF1 mutation. The patient had a moderate anemia since 6 months old, keeping a baseline Hb value of 8.0-9.0 g/dL. She had normal development except for a short stature (3rd percentile) until 6 years old, when splenomegaly and facial bone deformities occurred. Although genetic alteration of KLF1 expression in β0/β0 patients can result in some degree of disease alleviation, our case shows that it is insufficient to ameliorate satisfactorily the presentation. This point should be borne in mind for physicians who provide the genetic counseling and prenatal diagnosis to at-risk families.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"60-62"},"PeriodicalIF":1.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139681024","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

Factors Associated with Overt Stroke in Children and Adolescents with Sickle Cell Disease: A Retrospective Cohort Study. 镰状细胞病儿童和青少年发生脑卒中的相关因素：回顾性队列研究

IF 1 4区医学

Hemoglobin Pub Date : 2024-01-01 Epub Date: 2024-01-23 DOI: 10.1080/03630269.2023.2301490

Wolney de Oliveira Taques, Gabriele Curvo Bett, Bárbara Lucia Barbosa de Moraes, Iasmin Medeiros, Cor Jesus Fernandes Fontes, Ruberlei Godinho de Oliveira

{"title":"Factors Associated with Overt Stroke in Children and Adolescents with Sickle Cell Disease: A Retrospective Cohort Study.","authors":"Wolney de Oliveira Taques, Gabriele Curvo Bett, Bárbara Lucia Barbosa de Moraes, Iasmin Medeiros, Cor Jesus Fernandes Fontes, Ruberlei Godinho de Oliveira","doi":"10.1080/03630269.2023.2301490","DOIUrl":"10.1080/03630269.2023.2301490","url":null,"abstract":"Sickle cell disease (SCD) is associated with a high occurrence of complications due to vaso-occlusive phenomenon such as stroke. This retrospective cohort study aimed to examine the clinical and laboratory characteristics of 120 children and adolescents with SCD and analyze the factors associated with overt stroke incidence. All relevant data were obtained from patient medical records. Survival analysis was used to compare the demographic, clinical, and laboratory characteristics between patients with and those without overt stroke. The patients were 52.5% female with a mean (SD) age of 11.2 (4.3) years. The incidence of overt stroke in this cohort was nine out of 956.7 patient-years, resulting in an incidence density of 0.94 cases/100 patient-years. Reports of greater than or equal to two previous attacks of dactylitis and greater than or equal to three episodes of acute chest syndrome (ACS)/pneumonia were associated with overt stroke and an increase in reticulocyte count and red blood cell distribution width (RDW). In conclusion, a history of a high number of dactylitis, ACS/pneumonia, increased RDW, and reticulocytosis was associated with overt stroke occurrence in children and adolescents with SCD. Future studies with a higher stroke incidence in the evaluated sample are necessary to confirm this hypothesis.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"39-46"},"PeriodicalIF":1.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139542271","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

Hb Hebei [α20 (B1) His→Leu; HBA2:C.62A > T]: A Novel Hemoglobin Variant Found during Measurement of Glycated Hemoglobin. 河北血红蛋白 [α20 (B1) His→Leu; HBA2:C.62A > T]：测量糖化血红蛋白时发现的新型血红蛋白变异体。

IF 1 4区医学

Hemoglobin Pub Date : 2024-01-01 Epub Date: 2024-02-05 DOI: 10.1080/03630269.2024.2311356

Wei-Bin Li, Li-Hong Zheng, You-Qiong Li

引用次数: 0

β⁰-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T]. 由新型无义突变 [HBB:c.199A > T] 引起的β0-地中海贫血症。

IF 1 4区医学

Hemoglobin Pub Date : 2024-01-01 Epub Date: 2024-02-29 DOI: 10.1080/03630269.2024.2322518

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

引用次数: 0

Identification of a Novel Variant c.163delG in HBB Gene Resulting in a Beta Null Phenotype in a Proband with Thalassemia Intermedia. 鉴定 HBB 基因中的一个新变体 c.163delG，该变体导致一名中型地中海贫血患者出现 Beta 缺失表型。

IF 1 4区医学

Hemoglobin Pub Date : 2024-01-01 Epub Date: 2024-01-23 DOI: 10.1080/03630269.2023.2279609

M Mamata, G Padma, T Pragna Laxmi, K Saroja, Dalal Ashwin, Jain Suman

{"title":"Identification of a Novel Variant c.163delG in HBB Gene Resulting in a Beta Null Phenotype in a Proband with Thalassemia Intermedia.","authors":"M Mamata, G Padma, T Pragna Laxmi, K Saroja, Dalal Ashwin, Jain Suman","doi":"10.1080/03630269.2023.2279609","DOIUrl":"10.1080/03630269.2023.2279609","url":null,"abstract":"A 21-year-old patient presented with a previous medical history of pallor, mild icterus, increased fatigue, low hemoglobin, and abnormal hemoglobin variant analysis with more than 70 transfusions. He was referred for genetic analysis to identify the pathogenic variations in the β-globin gene. Sanger's sequencing of the proband and his family revealed the presence of a novel frame shift variant HBB:c.163delG in a compound heterozygous state with hemoglobin E (HbE) (HBB:c.79G > A) variant. The father and the sibling of the patient were found to be normal for the HBB gene. Mother was found to be heterozygous for HbE (HBB:c.79G > A) variant. In silico analysis by Mutalyzer predicted that c.163delG variant generated a premature stop codon after seven codons, leading to a truncated protein. FoldX protein stability analysis showed a positive ΔΔG value of 45.27 kcal/mol suggesting a decrease in protein stability. HBB:c.79G > A is a known variant coding for HbE variant, which results in the reduced synthesis of β-globin chain and shows mild thalassemia. Combined effect of HBB:c.163delG and HBB:c.79G > A variants in the proband might have led to the reduced synthesis of β-globin chains resulting in a thalassemia intermedia type of clinical manifestation.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-3"},"PeriodicalIF":1.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139519162","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

Misdiagnosis of β-Thalassemia Major Due to Chinese ^Gγ+(^Aγδβ)⁰-Thalassemia Combined with β⁰-Thalassemia. 中国 Gγ+(Aγδβ)0-地中海贫血合并β0-地中海贫血导致的β-重型地中海贫血误诊。

IF 1 4区医学

Hemoglobin Pub Date : 2024-01-01 Epub Date: 2024-01-19 DOI: 10.1080/03630269.2023.2299439

Li-Hong Zheng, Liang Liang, Jin-Ping Bai, Han-Xian Liao, You-Qiong Li

{"title":"Misdiagnosis of β-Thalassemia Major Due to Chinese Gγ+(Aγδβ)0-Thalassemia Combined with β0-Thalassemia.","authors":"Li-Hong Zheng, Liang Liang, Jin-Ping Bai, Han-Xian Liao, You-Qiong Li","doi":"10.1080/03630269.2023.2299439","DOIUrl":"10.1080/03630269.2023.2299439","url":null,"abstract":"δβ-thalassemia is a rare type of thalassemia characterized by increased Hb F levels, including mainly Chinese Gγ(Aγδβ)0-thalassemia, Yunnanese Gγ(Aγδβ)0-thalassemia, Cantonese Gγ(Aγδβ)0-thalassemia in China. Due to the low rate of δβ-thalassemia carriers, there are few reports of δβ-thalassemia combined with β-thalassemia causing β-thalassemia major. Herein, we described the combination of Chinese Gγ(Aγδβ)0-thalassemia and β-thalassemia leading to β-thalassemia major in a Chinese patient. Hemoglobin analysis was performed by capillary electrophoresis (CE). Routine genetic analysis was carried out by gap-polymerase chain reaction (Gap-PCR) and PCR and reverse dot blot (PCR-RDB). Multiple ligation-dependent probe amplification (MLPA) was used to detect the large deletion, and Gap-PCR confirmed the deletion. A CE result showed an elevated Hb F level of 98.7% and 11.7% in the proband and her mother, but the proband was diagnosed with βCD17M/βCD17M using routine genetic analysis. However, her father was heterozygous for CD17 in β-globin, and her mother was detected as SEA heterozygous. The further analysis presented that the proband had actually missed the diagnosis of Chinese Gγ(Aγδβ)0-thalassemia by MLPA and PCR-RDB. Finally, the genotype of the proband was corrected from βCD17M/βCD17M to βCD17M/βGγ(Aγδβ)0. This is the first report of Chinese Gγ(Aγδβ)0-thalassemia combined with β-thalassemia resulting in β-thalassemia major in China. Screening for δβ-thalassemia by Hb analysis could be an effective method.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"24-29"},"PeriodicalIF":1.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139490053","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