Hemoglobin最新文献

{"title":"Dominant Beta Thalassemia: A Very Rare Cause of Thalassemia in a Mediterranean Country.","authors":"Cagri Coskun, Sule Unal","doi":"10.1080/03630269.2024.2386067","DOIUrl":"10.1080/03630269.2024.2386067","url":null,"abstract":"<p><p>Beta thalassemia is one of the monogenic disorders characterized by decreased production of β-globin chains and various types of mutations have been reported to cause thalassemia phenotype. On the other hand, rare mutations also affect and diversify the disease spectrum. Herein, we present an anemic patient from Turkey diagnosed with dominant β thalassemia due to a heterozygous mutation in exon 3 of the <i>HBB</i> gene.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141874670","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}

{"title":"Hb A₂-Guangxi [δ79 (EF3) Asp→Asn, <i>HBD</i>: C.238G > A] and polyA + 70 (<i>HBD</i>: C.*200G > A): Two Novel δ-Globin Gene Mutations Identified in a Chinese Family.","authors":"Xi-Gui Long, Xi He, Li-Hong Zheng, Liang Liang, Ting Qin, You-Qiong Li","doi":"10.1080/03630269.2024.2390934","DOIUrl":"10.1080/03630269.2024.2390934","url":null,"abstract":"<p><p>We report the molecular and hematological identifications of two novel δ-globin gene mutations found in Guangxi Zhuang Autonomous Region, China. Capillary electrophoresis of the proband showed 1.3% Hb A₂, accompanied by a minor unknown peak (0.7%) within the Z1 zone. High-performance liquid chromatography also revealed the presence of 1.5% Hb A₂ and a 0.6% unknown peak. Routine genetic testing (Gap-PCR and reverse dot-blot hybridization) for common α-thalassemia was performed, and no mutations were observed. Sanger sequencing identified a heterozygous mutation for GAC > AAC at codon 79 (<i>HBD</i>:c.238G > A) and G > A at polyA + 70 (<i>HBD</i>:c.*200G > A) of the δ-globin gene. This variant was named Hb A₂-Guangxi [δ79 (EF3) Asp→Asn, <i>HBD</i>:c.238G > A] after the geographic origin of the proband.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142035669","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}

{"title":"Venous Thromboembolism in Individuals with Sickle Cell Disease: A Narrative Review.","authors":"Ismail A Raslan, Ziad Solh, Kevin H M Kuo, Jameel Abdulrehman","doi":"10.1080/03630269.2024.2371884","DOIUrl":"10.1080/03630269.2024.2371884","url":null,"abstract":"<p><p>Sickle cell disease (SCD) is an inherited hemoglobinopathy characterized by vaso-occlusion, hemolysis of red blood cells (RBC), and a predisposition for venous thromboembolism (VTE). The sickling and hemolysis of RBC culminate in coagulation system abnormalities, platelet activation, endothelial dysfunction, and impaired blood flow manifesting as a prothrombotic state. In addition, individuals with SCD are often exposed to extrinsic risk factors for VTE including recurrent hospitalizations, central venous catheters, and acute medical illnesses. The diagnosis is often challenging as symptoms may mimic other complications of SCD, and there is little data to guide diagnostic algorithms involving probability scoring in the SCD population. Non-anticoagulant strategies aimed at reducing disease severity may aid in lowering the risk of VTE, but data is limited. Furthermore, high quality evidence regarding anticoagulation in prevention and treatment of SCD is severely lacking, resulting in heterogeneity in clinical practice. In this narrative review we aim to review the prothrombotic pathophysiology of SCD, to describe the risk factors, high risk of mortality, and types of VTE in SCD, to develop an approach to the diagnosis of VTE in SCD, and to understand the limited available evidence for the prevention and treatment of VTE in SCD.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464091","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}

{"title":"Morbidity and Mortality Associated with COVID-19 and Acute Chest Syndrome in Sickle Cell Disease Patients.","authors":"Mohamed Keita, Moussa Seck, Alioune Badara Diallo, Sokhna Aissatou Touré, Elimane Seydi Bousso, Serigne Mourtalla Gueye, Nata Dieng, Fatma Dieng, Blaise Felix Faye, Saliou Diop","doi":"10.1080/03630269.2024.2378069","DOIUrl":"10.1080/03630269.2024.2378069","url":null,"abstract":"<p><p>SUMMARYCOVID-19 infection has emerged as a comorbidity that can significantly increase morbidity and mortality in sickle cell patients with ACS (acute thoracic/chest syndrome). The aim of our study was to assess COVID-19-related morbidity and mortality in sickle cell patients with ACS. This was a retrospective, descriptive study of patient records followed over a 36-month period from January 2020 to December 2022. The study was conducted at the national blood transfusion center in Dakar. The sex ratio (M/F) was 0.82. The median age was 26 (17-39) years. The most represented age group was between 21 and 30 years. Factors associated with death were: at baseline, SS genotype, presence of comorbidities (asthma, chronic obstructive pulmonary disease, viral hepatitis B, ischemic heart disease), osteonecrosis of the femoral head, and use of NSAIDs (non-steroidal anti-inflammatory drugs) at diagnosis of COVID-19; at the diagnosis of ACS associated with COVID-19, respiratory distress, hypoxia (Sa02 < 92%), creatininemia >18.5 mg/l, CRP >192 mg/l, lymphopenia; the therapeutic modalities associated with death were: transfusion of RBCs (packed red blood cells) and curative anticoagulation. This study shows that patients with comorbidities and/or chronic complications of sickle cell disease can develop severe forms of ACS associated with COVID 19, leading to death. Other factors linked to death, notably diagnostic and therapeutic, were also identified in the course of this study.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141734010","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}

{"title":"Perspectives of General Hematologists on a Proposed Shared Care Model for HSCT in Sickle Cell Disease.","authors":"Abdulrahman Alsultan, Mohsen Alzahrani, Mohammed Essa, Abdullah Aljefri, Hatoon Ezzat, Wasil Jastaniah","doi":"10.1080/03630269.2024.2410294","DOIUrl":"10.1080/03630269.2024.2410294","url":null,"abstract":"","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142361452","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}

{"title":"First Report of Hb Youngstown in Capillary Electrophoresis and Overlapping Hb Analysis Findings with Hb Rush.","authors":"Kim Yan Poh, Ping Chong Bee","doi":"10.1080/03630269.2024.2398236","DOIUrl":"10.1080/03630269.2024.2398236","url":null,"abstract":"<p><p>Hb Youngstown [<i>HBB:</i>c.305A > C] is a rare unstable hemoglobin caused by the substitution of glutamic acid with alanine at codon 101 of the Beta globin chain. It causes hemolytic anemia in the heterozygous state. This is a case of a six-year-old Chinese-Javanese girl with heterozygous Hb Youngstown and clinical features of chronic hemolysis and iron overload. Hb Youngstown appears at the S window near to 4.6 minutes on high-performance liquid chromatography (HPLC) and can form a hybrid tetramer on alkaline gel electrophoresis seen as two distinct bands cathodal to A and close to F. For the first time, Hb Youngstown is captured with capillary electrophoresis (CE) and shown to be eluted at zone 8. Clinical presentation and Hb analysis results of this heterozygous Hb Youngstown overlap with heterozygous Hb Rush. They can only be differentiated at molecular level by Beta globin gene sequencing or intact mass spectrometry.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142119679","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}

{"title":"Elevated Plasma Atherogenic and Triglyceride-Glucose Indices: Markers of Cardiovascular Risk in Transfusion-Dependent Thalassemia.","authors":"Nazif Yalcin, Sevil Sadri, Ayşegül Ertınmaz Özkan, Vildan Gürsoy, Nizameddin Koca","doi":"10.1080/03630269.2024.2412111","DOIUrl":"10.1080/03630269.2024.2412111","url":null,"abstract":"<p><strong>Background: </strong>Transfusion-dependent thalassemia (TDT) is an autosomal recessive disorder characterized by defective hemoglobin synthesis, leading to severe complications such as iron overload and multi-organ dysfunction. This study aims to elucidate the distinctive clinical and biochemical profiles of TDT patients compared to healthy controls, with an emphasis on cardiovascular risk assessment using novel markers such as the Plasma Atherogenic Index (PAI) and Triglyceride-Glucose (TyG) index.</p><p><strong>Methods: </strong>This cross-sectional study included 32 TDT patients and 36 healthy controls, matched for age and gender. Comprehensive demographic, laboratory, and imaging data were collected and analyzed. TDT patients were further stratified based on cardiac involvement and ferritin levels. Key assessments included hemoglobin levels, liver enzymes, lipid profiles, and cardiac imaging. The PAI and TyG index were calculated to evaluate cardiovascular risks. Statistical analyses were performed using SPSS 27.0, employing Student's <i>t</i>-test, Mann-Whitney <i>U</i> test, and Pearson chi-square test as appropriate.</p><p><strong>Results: </strong>No significant differences in basic demographic parameters were observed between groups; however, TDT patients exhibited significant clinical and laboratory differences. Notably, these patients had lower hemoglobin levels, higher platelet counts, elevated liver enzymes (ALT and AST), and markedly increased ferritin levels. Lipid profiles were significantly altered, with lower levels of total cholesterol, HDL, and LDL but elevated triglycerides. Importantly, the PAI was significantly higher in TDT patients, suggesting an increased atherosclerotic risk. Subgroup analysis revealed that patients with cardiac involvement had worse metabolic profiles, higher TyG indices, and prolonged QT intervals, indicating heightened cardiovascular risk. As the iron burden increases, the TyG index and PAI may lose their sensitivity in distinguishing between varying levels of iron overload, suggesting that their effectiveness plateaus beyond a certain threshold of iron accumulation.</p><p><strong>Conclusion: </strong>TDT patients show significant hematological and metabolic deviations, including elevated cardiovascular risk markers like PAI and TyG index. As iron burden increases, these markers lose discriminative power, and cardiac involvement escalates rapidly once a critical iron threshold is surpassed, as supported by studies showing a non-linear relationship between iron load and cardiac complications. Comprehensive cardiovascular risk assessment and tailored management are essential for these patients. Future studies should focus on tracking cardiovascular risk progression and the effects of targeted interventions.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464088","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}

{"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":"<p><p>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.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":null,"pages":null},"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}

{"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":"<p><p>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).</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":null,"pages":null},"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}

{"title":"Hemoglobin Oviedo (<i>c.115A > G; p.T39A</i>): A Cause of Low Oxygen Saturation.","authors":"Luis Vega López, Alberto Medina, Helena Gil-Peña, Ariana Fonseca Mourelle, Jose Ramón Gutiérrez Martínez","doi":"10.1080/03630269.2024.2382775","DOIUrl":"10.1080/03630269.2024.2382775","url":null,"abstract":"<p><p>We report a new low-affinity hemoglobinopathy (Hemoglobin Oviedo) in a family with isolated low oxygen saturation (89-92%) caused by a previously undescribed variant (NM_000518.5: c.115A > G;p.Thr39Ala) in the hemoglobin subunit β encoding gene (<i>HBB</i> gene) located on chromosome 11.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141874671","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}