Hemoglobin最新文献

{"title":"Dynamic Viscosity of Hemoglobin Solutions Determined by Transverse Proton Magnetic Relaxation.","authors":"Néstor Juan Rodríguez de la Cruz, Yulianela Mengana Torres, Juan Carlos García Naranjo, Beatriz T Ricardo Ferro, Yamirka Alonso Geli, Edalis Guerrero Piña, Yomaidis Araujo Durán, Lidia C Suárez Beyries, Inocente C Rodríguez Reyes, Samuel Jorge Rosales Rodríguez, Manuel Guevara","doi":"10.1080/03630269.2025.2493949","DOIUrl":"10.1080/03630269.2025.2493949","url":null,"abstract":"<p><p>A method based on transverse proton magnetic relaxation to determine the <i>η_Hb</i> is presented. The procedure is supported by the inverse relationship between <i>η_Hb</i> and <i>T</i>₂. The Hb samples were obtained starting from whole blood of healthy individuals and patients, which was processed by classical methods (centrifugation, decanting and freezing-thawing cycles). An Ostwald's viscometer was used to measure (293 K) <i>η_Hb</i> in Hb solutions of different concentrations and in non-diluted Hb samples belonging to healthy individuals. The CPMG pulse sequence was employed to determine <i>T₂</i> in a Tecmag Magnetic Resonance console coupled to a magnet of 0.095 T, and the temperature of measurement was 293 K. A calibration curve of <i>R</i>₂ = <i>1/T</i>₂ as a function of <i>η_Hb</i> was obtained, making possible the evaluation of this viscosity starting from the experimental measurement of <i>T</i>₂. A theoretical expression was derived, which properly describes the behavior of <i>R₂</i> as a function of <i>η_Hb</i> and supports the obtained calibration curve. The method developed, using the transverse proton magnetic relaxation, was successfully used to calculate <i>η_Hb</i> in samples belonging to 10 healthy individuals, and its potential utility for medical applications was observed estimating <i>η_Hb</i> in samples belonging to 46 sickle cell disease patients. To use this method a special care must be taken with the temperature, the value of <i>τ</i> and the homogeneity of the static magnetic system. Additionally, the presence inside the sample of an external amount of water, paramagnetic compounds, and/or other biological materials must be avoided.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"172-177"},"PeriodicalIF":1.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143995294","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":"Unraveling Hemoglobin D's Influence: A Comprehensive Analysis of Clinicopathological Parameters in Hemoglobin D Patients.","authors":"Mohib Shamoon, Rafia Mahmood, Manzar Bozdar, Saad Yousof","doi":"10.1080/03630269.2025.2510442","DOIUrl":"10.1080/03630269.2025.2510442","url":null,"abstract":"<p><p>This prospective cross-sectional study was conducted at the Department of Hematology at Armed Forces Institute of Pathology Rawalpindi, Pakistan, from July 2023 to February 2025 after approval from Ethical Review Committee of the institute. Individuals being investigated for hemoglobinopathies in whom Hemoglobin D was detected, were included in the study. After detailed history and examination, investigations were performed including Complete Blood Counts (on Sysmex XN-3000), Capillary Zone Electrophoresis (on Sebia Capillarys 2 Flex-Piercing), High Performance Liquid Chromatography (on Bio-Rad D10) for differentiating Hb D-Punjab and D-Iran. Molecular studies (using PCR) were performed on samples in which a co-existing β thalassemia mutation was suspected on hemoglobin electrophoresis. Data collected was analyzed on Jamovi v2.4. Over 18 months, 2,171 individuals were tested for hemoglobinopathies, and Hb D, after excluding concomitant iron deficiency anemia, was detected in 106. Among these, 76 were found to have Hb D trait, 3 with homozygous Hb D disease, and 27 with compound heterozygous conditions. The compound heterozygous group included 21 patients of Hb D/β-thalassemia, 4 patients of Hb S/D, and 2 patients of Hb D/E. Hb D-Punjab accounted for 71% of the Hb D patients, and Hb D-Iran for the remaining 29%. Linear regression analysis revealed that MCH and RBC count showed significant positive correlations with Hb D levels. Molecular analysis identified specific β-thalassemia mutations in the Hb D/β-thalassemia cases, with IVS1-5 and FR 8-9 being the most common.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"195-199"},"PeriodicalIF":1.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198884","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":"Clinical Implications of HbD-Punjab and HbS co-Inheritance - A Rare Case in South India.","authors":"Ananyaa Dixit, Anupama Hegde, Rukmini M S","doi":"10.1080/03630269.2025.2504914","DOIUrl":"10.1080/03630269.2025.2504914","url":null,"abstract":"<p><p>HbD-Punjab is prevalent in the north-western region of India with an estimated frequency of 2% in Punjab. The association of HbD-Punjab with HbS results in moderate-severe symptoms which are similar to the HbSS homozygous phenotype. Simultaneous presence of variant HbD with HbS favors polymerization of HbS molecules which results in serious consequences like sickle vaso-occlusion leading to diminished flow of blood through the capillaries supplying the bones resulting in ischemia, avascular necrosis, infarcts of bone, untimely closure of epiphyseal plates and stunted growth. This study describes a brief incident where a 28-year-old female, who presented with left sided hip pain, diagnosed with left hip femoral head Avascular Necrosis (AVN) (Grade-3). She was diagnosed with sickle cell anemia in a regional hospital at the age of six years and had undergone multiple blood transfusions. She had a history of right total hip replacement, left knee synovectomy and pain in multiple joints, including both the knees, elbows and shoulders. In view of severe anemia, hemoglobin fractionation was done using HPLC method which was suggestive of double heterozygous Hb SD-Punjab, genetic and family studies were recommended and there was no significant family history. This study enlightens the occurrence of adverse consequences in the presence of a double heterozygous Hb variant with one of the variants being Hb S. Laboratory investigations for identification and characterization of such variant hemoglobin is important for preventive and palliative care.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"208-212"},"PeriodicalIF":1.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144208342","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-Getafe [δ 132 (H10) Lys > Thr, <i>HBD</i>: c.88C > A]: New Mutation in the δ-Globin Gene in a Spanish Patient.","authors":"Ramiro Antonio Torrado Carrión, Rafael López Moreno, Carmen Blanco Barros, Lisset Pabón, Paloma Ropero Gradilla","doi":"10.1080/03630269.2025.2511984","DOIUrl":"10.1080/03630269.2025.2511984","url":null,"abstract":"<p><p>We present the case of a 71-year-old Spanish patient with a low Hb A₂ value by high-performance liquid chromatography (HPLC) and an atypical profile by capillary electrophoresis (CE), suggesting an Hb A₂ structural variant. Molecular biology revealed a non-described mutation in codon 132 of the 3rd exon of the <i>HBD</i> gene. This mutant allele codes for a change of amino acid (lysine to threonine) in position 10 of the helix H of the delta (δ) globin chain, described as <i>HBD</i>: c.398A > C or Hb A₂-Getafe. Detection of new variants in the δ-globin chain is crucial since these mutations may mask different pathologies, such as beta (β) thalassemia.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"233-236"},"PeriodicalIF":1.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144247650","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":"Evaluating Renal Glomerular Function in Beta-Thalassemia Patients Receiving Deferasirox Using Serum Cystatin-C and Creatinine: A Cross-Sectional Study.","authors":"Hossein Akbarnataj, Aziz Eghbali, Neda Ashayeri, Mohammadreza Padooiy Nooshabadi, Rozita Hosseini Shamsabadi","doi":"10.1080/03630269.2025.2497856","DOIUrl":"10.1080/03630269.2025.2497856","url":null,"abstract":"<p><p>The introduction of iron chelation therapies has notably extended the life expectancy of individuals with β-thalassemia, thereby presenting the potential for the emergence of new complications such as renal impairments. Because creatinine levels are influenced by body mass and nutritional status, there is a need for a more sensitive and reliable indicator of renal glomerular function. Here, we studied 27 individuals with β-thalassemia undergoing iron chelation therapy with Deferasirox. The serum levels of cystatin-C, a highly sensitive biomarker for renal dysfunction, were quantified using an immunoturbidimetry assay. We subsequently analyzed the data, examining correlations with other clinical and laboratory parameters. We determined the glomerular filtration rate (GFR) using both creatinine and cystatin-C-based equations. According to the creatinine equation, none of the patients had a reduced GFR, but 59% exhibited a reduced GFR value based on the cystatin-C equation. Patients with elevated cystatin-C levels exhibited higher serum creatinine (<i>p</i> < 0.001) and BUN (<i>p</i> = 0.002) and lower ferritin (<i>p</i> = 0.023) levels. Our study revealed a positive correlation between cystatin-C and creatinine (<i>p</i> = 0.002), BUN (<i>p</i> = 0.018), and BMI (<i>p</i> = 0.046), while a negative correlation was observed with ferritin (<i>p</i> = 0.006). We found no correlation between cystatin-C and age, weight, height, Deferasirox therapy duration, or blood transfusion frequency. Multiple regression analysis indicated that ferritin (<i>p</i> = 0.003) significantly affected cystatin-C levels, while other variables did not. Additionally, no independent variables had a significant impact on creatinine levels. Since there is a high likelihood of subclinical renal impairment in these patients, we recommend regular monitoring of serum cystatin-C as a screening tool.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"178-186"},"PeriodicalIF":1.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143985227","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":"Death from <i>S. pneumoniae</i> in HbSC Disease: Was Expanded Pneumococcal Vaccination Too Late?","authors":"Charles A Coomer, Rebecca A Levin, Caitlin M Neri","doi":"10.1080/03630269.2025.2489635","DOIUrl":"10.1080/03630269.2025.2489635","url":null,"abstract":"<p><p>Despite proven efficacy, only 70% of eligible individuals in the U.S. are vaccinated against <i>Streptococcus pneumoniae</i>. This is especially concerning for patients with sickle cell disease (SCD), as they are susceptible to invasive pneumococcal disease owing to functional asplenia. Early and complete vaccination is crucial in preventing pneumococcal sepsis and its complications, including the rare but often fatal fat embolism syndrome. Here, we report a case of an adolescent male with Hemoglobin SC (HbSC) disease who presented to our pediatric emergency department (ED) with abdominal and back pain. Notably he had received all vaccinations according to published guidelines, however had not yet received the expanded pneumococcal vaccine. He was in his usual state of health the previous day. He arrived to the ED mildly febrile, tachypneic, and tachycardic with altered mental status. His condition rapidly deteriorated into acute respiratory failure, coagulopathy, and multiorgan dysfunction syndrome. Unfortunately, he succumbed following multiple cardiac arrests less than 12 hours into his illness course. This case highlights to pediatric and adolescent providers that invasive pneumococcal disease remains a significant risk for vaccinated, adolescent patients, even with mild SCD genotypes. Moreover, it underscores the critical importance of early, complete pneumococcal vaccination in SCD patients. The newer expanded pneumococcal vaccines could enhance protection for this vulnerable population.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"213-217"},"PeriodicalIF":1.2,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144019903","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 Case in Portugal of a Rare Hemoglobin Variant - Hb Montfermeil: Importance of Laboratory Diagnosis.","authors":"Catarina Alves de Oliveira, Nádia Sousa Martins, Olívia Ferrari, Celeste Bento","doi":"10.1080/03630269.2025.2486326","DOIUrl":"10.1080/03630269.2025.2486326","url":null,"abstract":"<p><p>Hemoglobin A1c (HbA1c) is a clinically useful parameter, considered the standard-of-care for diagnosing and monitoring type 2 diabetes mellitus. However, the presence of Hb variants, including Hb Montfermeil, may interfere with HbA1c assay, affecting the accuracy of the results. Here, we report the first case diagnosed in Portugal of this rare hemoglobin variant.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"153-155"},"PeriodicalIF":1.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803199","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":"Second Allogeneic Hematopoietic Stem Cell Transplantation in Patients with Thalassemia Major after Graft Rejection.","authors":"Christina Oikonomopoulou, Anna Paisiou, Eleni-Dikaia Ioannidou, Anna Komitopoulou, Aikaterini Kaisari, Michalis Kastamoulas, Georgia Stavroulaki, Sofia Hante, Ioannis Grafakos, Marina Letsiou, Eftichia Petrakou, Maria Theodosaki, George Vessalas, Stelios Graphakos, Ioulia Peristeri, Vassiliki Kitra-Roussou, Evgenios Goussetis","doi":"10.1080/03630269.2025.2481261","DOIUrl":"10.1080/03630269.2025.2481261","url":null,"abstract":"","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"141-144"},"PeriodicalIF":1.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803201","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":"Haplotype-Specific Genetic Epidemiology of Sickle Cell Anemia Patients in Accra, Ghana: Patterns, Clinical Implications, and Public Health Responses.","authors":"Francis Abeku Ussher, Edwin Ferguson Laing, Ernest Kissi Kontor, Alex Bismark Atta-Owusu, Nityanand Jain, Robert Amadu Ngala, Shadrach Coffie Asiedu","doi":"10.1080/03630269.2025.2474609","DOIUrl":"10.1080/03630269.2025.2474609","url":null,"abstract":"<p><p>Sickle cell disease (SCD) is a genetic disorder with a diverse spectrum of clinical presentation, often determined by inherited β^S gene haplotypes. Ghana, a country with a significant SCD burden, lacks population haplotype frequency data, hindering anthropological, genetic, and clinical understanding and management of the disease. A prospective sample of 191 SCD patients (sickle cell anemia; homozygous HbSS) was recruited at the Korle-Bu Teaching Hospital, Accra. Identification of β^S gene haplotypes was performed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Hematological tests were performed using routine laboratory procedures. Kruskal-Wallis ANOVA with Dunn post-hoc was used to compare the hematological parameters. Multinomial probability models were used to compare the frequencies of the observed haplotypes with those reported in other African countries. The Atypical haplotype was disproportionately prevalent (58%), followed by the Bantu/CAR (20%) and Benin (10%) haplotypes. Significant differences were observed between the haplotypes in lymphocyte count, platelet count, sodium and potassium levels (<i>P</i> < 0.001). In addition, disease severity varied significantly between haplotypes (<i>P</i> = 0.010), with notable differences between the Atypical and Bantu/CAR haplotypes (<i>P</i>_FDR = 0.020). Multinomial probability testing revealed a substantial deviation from the expected haplotype distribution, highlighting significant differences in haplotype frequencies between Ghana and other African countries. The Wright-Fisher model showed that the variation in Arab-Indian haplotype frequency reached zero by the 100^th generation. Our findings highlight the need to study haplotype composition in Ghana to identify population-specific risk factors and tailor public health interventions to better manage patient needs.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"85-93"},"PeriodicalIF":1.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143566805","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":"Educational Bias in Cognitive Screening of Adults with Sickle Cell Disease: A Bilingual Multisite Observational Study.","authors":"Stéphanie Forté, Maryline Couette, Damien Oudin Doglioni, Philippe Desmarais, Denis Soulières, Pablo Bartolucci, Kevin H M Kuo","doi":"10.1080/03630269.2025.2488375","DOIUrl":"https://doi.org/10.1080/03630269.2025.2488375","url":null,"abstract":"<p><p>Cognitive impairment is a common and dreaded complication of sickle cell disease (SCD), profoundly affecting patients' quality of life, education, and employment. Despite its significance, there is a striking lack of guidance on optimal screening strategies, with existing tools often skewed by biases related to language proficiency and educational background, leaving many patients undiagnosed and unsupported. The Rowland Universal Dementia Assessment Scale (RUDAS) was specifically designed for cognitive screening in multicultural populations. We hypothesized that in adults with SCD, RUDAS performance is less influenced by educational attainment when compared to the Montreal Cognitive Assessment (MoCA). We conducted a cross-sectional study of adults with SCD who underwent cognitive screening at the Henri-Mondor Hospital using RUDAS and MoCA. Educational attainment was scored as the years of schooling for the highest completed diploma (HLE). Abnormal RUDAS (<28) and MoCA (<26) scores were found in 55/73 (75.3%) and 52/73 (71.2%). Both scores increased significantly with HLE (<i>p</i> < 0.001). Adding 1 point for those with the HLE < 12 years significantly mitigated the effect of education on RUDAS but only partially for MoCA (<i>p</i> = 0.26 and <i>p</i> = 0.003). In an independent cohort of 252 adults, this adjustment for HLE significantly lessened the effect of education on RUDAS. These results suggest there is an educational bias in neurocognitive screening of adults with SCD. We propose that the RUDAS adjusted for HLE is a promising novel strategy to systematically identify those in need of comprehensive neurocognitive assessment.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"49 2","pages":"156-159"},"PeriodicalIF":1.2,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143976636","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}