Hemoglobin最新文献

{"title":"Coexistence of Mycoplasma Pneumonia and Pulmonary Embolism as a Cause of Acute Chest Syndrome in a Child with Sickle Cell Disease.","authors":"Lucía Rodríguez-Noriega Béjar, Clara Simón Bernaldo de Quirós, Soledad González Muñíz, Ramón Gutiérrez Martínez","doi":"10.1080/03630269.2025.2538623","DOIUrl":"10.1080/03630269.2025.2538623","url":null,"abstract":"<p><p>Sickle cell disease (SCD) is a chronic, inherited hemoglobinopathy associated with significant morbidity and mortality, particularly in pediatric patients. Among its numerous complications, acute chest syndrome (ACS) remains one of the leading causes of hospitalization and death in children with SCD. ACS is a multifactorial condition, often precipitated by infection but also involving noninfectious causes such as thromboembolism. We present an 8-year-old girl with homozygous SCD who developed a protracted, atypical ACS. Initial findings suggested lobar pneumonia with serologic evidence of <i>Mycoplasma pneumoniae</i> infection. Despite antibiotics, persistent symptoms prompted CT, revealing both pneumonia and an acute pulmonary embolism (PE). The patient received therapeutic anticoagulation and transfusion support, leading to complete resolution of PE at six-month follow-up. This case highlights the critical importance of a broad differential diagnosis in pediatric SCD-related ACS; thromboembolic complications must be actively considered, especially in atypical or refractory cases. We hypothesize that <i>Mycoplasma pneumoniae</i> infection may synergistically exacerbate the inherent hypercoagulable state in SCD, contributing to PE development. This potential link warrants further investigation. Early diagnosis, comprehensive management, and proactive measures like hydroxyurea and long-term pulmonary monitoring are crucial for improving outcomes.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"332-336"},"PeriodicalIF":1.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144730063","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":"Sickling Disorder Caused by Co-Inheritance of Hemoglobin Maputo and Hemoglobin S: Case Report and Review of the Literature.","authors":"Sakina Loonat, Nitien Naran, Narisha Ramparsad, Nadia Beringer, Mishalan Moodly, Arshad Ismail, Michelle Bronze, Gail Faller, Nazeer Alli","doi":"10.1080/03630269.2025.2537094","DOIUrl":"10.1080/03630269.2025.2537094","url":null,"abstract":"<p><p>We report a family study wherein the index patient, a 6-year-old Mozambican female, was diagnosed with compound heterozygous HbS and Hb Maputo. She presented with acute pain, swelling and tenderness in the right fronto-temporal region of the skull, which raised suspicion of sickle cell disease (SCD). Prior to this presentation, a two-year history of vague clinical symptoms (viz., periodic fever, joint pain and abdominal pain) was obtained. Both parents were clinically asymptomatic. Hemoglobin separation studies were performed using hemoglobin electrophoresis and high performance liquid chromatography. Next generation sequencing technology was employed for gene sequencing analysis of globin genes. Both parents were also fully investigated. Hemoglobin separation studies on the index patient detected two hemoglobin variants that were identified on gene sequencing analysis as HbS and Hb Maputo. The mother and father were demonstrated to have heterozygous HbS and Hb Maputo, respectively. The α globin genes in all the family members had a normal wild type configuration. Conclusion: Hb Maputo in the heterozygous state is an uncommon β chain variant that is clinically silent whereas co-inheritance of Hb Maputo and HbS causes a sickling disorder with vaso occlusive disease.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"326-331"},"PeriodicalIF":1.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144834946","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":"Molecular Diagnosis and Stability Testing of Hemoglobin Phnom Penh [<i>HBA1</i>: C.353_355dup (p.Phe118_Thr119insIle)] - The First Northern Thai Case.","authors":"Phurachan Wongkuna, Siriraj Boontha, Pinyaphat Khamphikham","doi":"10.1080/03630269.2025.2553039","DOIUrl":"10.1080/03630269.2025.2553039","url":null,"abstract":"<p><p>Hemoglobin (Hb) Phnom Penh is a rare Hb variant of non-clinical significance caused by a duplication of TCA within exon 3 of the human <i>HBA1</i> gene, resulting in the insertion of isoleucine [c.353_355dup (p.Phe118_Thr119insIle)]. This variant can interfere with glycated Hb analysis and has been identified in several Asian populations, including Cambodian, Chinese, northeastern Thai, and Taiwanese individuals. In this study, we identified a northern Thai man with Hb Phnom Penh. The proband was a heterozygote and asymptomatic. The inheritance of Hb Phnom Penh was suspected based on his abnormal Hb pattern observed through high-performance liquid chromatography and confirmed by Sanger sequencing. Additionally, molecular analysis revealed that Hb Phnom Penh exhibits greater instability compared to HbE. Our findings report, for the first time, the presence of Hb Phnom Penh in northern Thailand and its instability, suggesting the heterogeneity of this Hb variant in Thailand and providing further insights into its basic characteristics.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"361-365"},"PeriodicalIF":1.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144951984","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 Bart's Disease Due to Uniparental Disomy for Chromosome 16: The Need for Clinical Vigilance in Hydropic Fetuses with Only One Parent Carrying α⁰-Thalassemia.","authors":"Xing-Mei Xie, Fan Jiang, Qiu-Xia Yu, Dong-Zhi Li","doi":"10.1080/03630269.2025.2556722","DOIUrl":"10.1080/03630269.2025.2556722","url":null,"abstract":"","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"323-325"},"PeriodicalIF":1.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145015095","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 Dieppe (<i>HBB:c. 383A > G</i>): A Rare Dominant β-Thalassemia in an Iraqi Kurdish Family.","authors":"Tara Jamel Osman, Ashna H Karim, Rozhgar A Khailany, Khalida A Mohammed, Luqman K Rasool, Nasir Al-Allawi","doi":"10.1080/03630269.2025.2567265","DOIUrl":"10.1080/03630269.2025.2567265","url":null,"abstract":"<p><p>Dominant β-thalassemia is a rare form of thalassemia that is caused by a heterogenous group of molecular defects, including missense, nonsense, and frameshift mutations. Among the missense mutations involving the third exon of β-globin gene is the rare Hb Dieppe (<i>HBB:c. 383A > G</i>) which leads to a very unstable β-variant. In the current study we report this variant in an 8-year-old girl and her 35-year-old mother in an Iraqi Kurdish family, both presenting as β-thalassemia intermedia with moderate hypochromic anemia, increased hemoglobin F and borderline hemoglobin A2. This constitutes the first report of this variant from an Eastern Mediterranean country, and underscores the pivotal role of molecular studies to diagnose Hb Dieppe and other dominant β-thalassemias, since in most cases the resultant variants are undetectable by hemoglobin electrophoresis.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"366-369"},"PeriodicalIF":1.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145232153","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":"When Unstable Hemoglobin Lansing Interacts with Alpha Thalassemia Along with <i>HbS</i>: An Interesting Case with Unique Clinical Presentation.","authors":"Adwait Marhatta, Jui Choudhuri, Joseph J Mulvey, Sean Campbell, Yanan Fang","doi":"10.1080/03630269.2025.2533221","DOIUrl":"10.1080/03630269.2025.2533221","url":null,"abstract":"<p><p>Hemoglobin (Hb) Lansing is a rare mildly unstable variant of α globin. Here, we report the first case of compound Hb Lansing/<i>HbS</i> coinherited with a single α thalassemia deletion (-alpha^3.7) in a 27-year-old woman. The patient exhibited moderate hemolytic anemia and low oxygen saturation by pulse oximetry, which failed to improve with supplemental oxygen. Notably, her oxygen saturation levels were normal by arterial blood gas. Capillary electrophoresis and high-performance liquid chromatography showed an <i>HbS</i> peak along with other abnormal peaks. Subsequent α globin gene sequencing revealed one copy of the -alpha^3.7 α-globin deletion and one copy of Hb Lansing variant in the alpha2-globin gene. Hemoglobin Lansing is known to cause spuriously low pulse oximetry. Additionally, the co-inheritance of the Hb Lansing and a single α thalassemia deletion may contribute to her moderate hemolytic anemia. The timely identification of hemoglobin variants is crucial for understanding the underlying cause when encountering unexpectedly low pulse oximetry, facilitating genetic counseling, and preventing unnecessary investigations and treatments. Further research is also needed to enhance our comprehension of the interactions among various hemoglobin variants; especially those associated with single a α thalassemia deletion.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"305-308"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144730064","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":"<i>HBA2</i>: C.4delG: A Novel Frameshift Mutation Causing α⁺-Thalassemia Found in a Chinese Family.","authors":"Wei Li, Guixi Wei, Shan Ren, Zulin Xie, Xuan Luo, Lanzuo Zhang, Yuanyuan Huang, Dejian Yuan","doi":"10.1080/03630269.2025.2523030","DOIUrl":"10.1080/03630269.2025.2523030","url":null,"abstract":"<p><p>We report a novel α-thalassemia (α-thal) point mutation identified in a Chinese man with mild hypochromia and microcytosis during premarital thalassemia screening. Sanger sequencing identified a frameshift variant (<i>HBA2</i>:c.4delG) at codon 1 (deletion of G) in the first exon of the α2-globin gene. This genetic alteration produces a truncated α-globin chain with a premature termination codon at position 48, leading to an α⁺-thalassemia phenotype. Pedigree analysis confirmed the mutation was inherited from the paternal lineage.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"301-304"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144575371","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":"Misdiagnosis of α-Thalassemia Heterozygotes as Homozygotes Due to Base Mutations in the Primer Binding Region.","authors":"Lihua Ye, Wei Li, Guixi Wei, Xuelian Shen, Shan Ren, Liang Liang, Aiqiong Jiang, Youqiong Li","doi":"10.1080/03630269.2025.2512899","DOIUrl":"10.1080/03630269.2025.2512899","url":null,"abstract":"<p><p>Misdiagnosis of α-thalassemia genotypes due to primer site mutations presents diagnostic challenges in Chinese populations where -α^3.7 deletion and <i>HBA2</i>:c.427T>C (Hb Constant Spring) heterozygotes are prevalent. We describe two cases where conventional diagnostic approaches erroneously identified heterozygous carriers as homozygotes. Diagnostic algorithms employing gap-PCR and PCR-RDB for common thalassemia mutations initially suggested homozygous status in both probands. Proband 1 (28-year-old male) was misclassified as -α^3.7 homozygote by gap-PCR, but MLPA analysis revealed heterozygous status, subsequently confirmed by third-generation sequencing which identified concurrent NG_000006.1:g.32793 C > T mutation validated through Sanger sequencing. Proband 2 demonstrated discordant <i>HBA2</i>:c.427T > C results, with MLPA detecting atypical signal intensities in <i>HBA2</i> and <i>HBA1</i> loci. Comprehensive TGS analysis revealed trans configuration with <i>HBA2</i>:c.300+55T > G and <i>HBA2</i>:c.301-24delGinsCTCGGCCC variants. These cases highlight the important impact of mutations in the priming region on molecular diagnosis and emphasize the need for further characterization by other methods to avoid misdiagnosis when results from traditional methods are equivocal.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"237-243"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198883","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":"Detection of Common α-Hemoglobin Variants in Thailand by Using Real-Time PCR with High Resolution Melting Analysis.","authors":"Siriphat Muangpa, Sawichayaporn Jermnim, Prissana Charoenporn, Pawanrat Suannum, Monthira Samaisombat, Peerapon Wong, Nonglak Yimtragool","doi":"10.1080/03630269.2025.2528728","DOIUrl":"10.1080/03630269.2025.2528728","url":null,"abstract":"<p><p>α-Hemoglobin (Hb) variants are common genetic mutations worldwide. The appropriate techniques must be followed to scan and identify these variants, particularly in routine investigations for thalassemia and hemoglobinopathies in countries with high prevalence of α and β-thalassemia. High resolution melting (HRM) analysis is a popular and effective technique for identifying genetic variations with rapid output results. This study designed four newly developed primer pairs that had full coverage of the <i>HBA</i> genes for detection of α-Hb variants using real-time PCR with HRM analysis. Forty-one blood samples were collected from individuals with known or suspected α-Hb variants. The results demonstrated clearly distinguished melting patterns of nine α-Hb variants including Hb Constant Spring, Hb Q-Thailand, Hb Pakse', Hb Hekinan, Hb Nakhon Ratchasima, Hb Siam, Hb Thailand, Hb Queens, and Hb Quong Sze compared with the wild-type sample pattern. All mutations were confirmed by DNA nucleotide sequencing. This study presents the first case report of the combination of Hb Shaare Zedek co-inherited with Hb Hekinan in a Thai patient. Interactions between these two Hb variants displayed a high level of Hb F (23.5%) on an HPLC Hb chromatogram and a mild symptom phenotype with low mean corpuscular volume (71.3 fL) and mean corpuscular hemoglobin (21.8 pg) in the proband. Overall, HRM analysis is a suitable, rapid, and powerful technique for the identification of gene mutations, and for the diagnosis of common and rare α-Hb variants to prevent and control thalassemia in Thailand.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"257-267"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144674563","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":"A Rare Hemoglobin Variant Detected for the First Time in Türkiye (Hb Iraq-Halabja): Evaluation of the Effect of Variant Hemoglobins on HbA1c Methods.","authors":"Tevfik Balcı, Beyza Ünlü, Müşerref Başdemirci, Emre Akkaya, Öznur Köylü, Said Sami Erdem","doi":"10.1080/03630269.2025.2524437","DOIUrl":"10.1080/03630269.2025.2524437","url":null,"abstract":"<p><p>The commonly used methods for HbA1c measurement are cation-exchange high performance chromatography (CE-HPLC), immunologic method, capillary electrophoresis and boronate affinity HPLC. Hb-variants can reduce the reliability of HbA1c measurements. We aimed to emphasize the importance of step-by-step solutions to the difficulties encountered in HbA1c measurement methods due to Hb-variants. We also aimed to evaluate the advantages and disadvantages of different methods used in HbA1c analysis with the example of the Hb-Iraq-Halabja variant detected for the first time in Türkiye. HbA1c level could not be measured by CE-HPLC (Adams HA-8180V analyzer, Arkray, Japan) and a peak-tailing signal was detected indicating an abnormality between stable HbA1c and HbA0 peaks (concurrent glucose level was 8.55mmol/L). In the second step, HbA1c was able to be measured by immunologic method and boronate affinity method and were found to be 5.87% and 5.90%, respectively (estimated average glucose equivalent 6.66mmol/L). In the last step, genetic analysis was performed due to suspicion of Hb variant and the very rare Hb Iraq-Halabja variant was detected. After genetic verification, HbA1c test was repeated with a different CE-HPLC (HLC-723 G11, T osoh, Tokyo, Japan) and a peak indicating variant Hb was detected between stable HbA1c and HbA0. A remarkable finding was that, unlike the previous CE-HPLC (Arkray) result, HbA1c could be measured as 3.20%. In the concurrent measurement performed on the boronate affinity HPLC (Premier Hb9210, Trinity Biotech, County Wicklow, Ireland), HbA1c result was found to be 5.40% (concurrent glucose 5.22 mmol/L). In addition, concurrent fructosamine serum value was found to be 210 μmol/L (estimated mean glucose equivalent 4.88 mmol/L). The patient's laboratory tests were generally within normal limits, and iron deficiency, hemolytic anemia, and B12-folate deficiency were excluded. The glucose bounding area of hemoglobin is generally preserved and is not affected by common Hb-variants. Boronate affinity and immunologic method (these two methods target glucose bounding areas) that give HbA1c results consistent with the patient's fasting blood glucose and fructosamine results. However, the CE-HPLC method has been observed to either fail to measure HbA1c or to measure falsely low HbA1c due to overlapping peaks of Hb variants.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"252-256"},"PeriodicalIF":1.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540044","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}