IF 1 4区医学

Hemoglobin Pub Date : 2025-10-05 DOI: 10.1080/03630269.2025.2568129

Swati Bhayana, Sohini Chakaroborty, Shrinidhi Nathany, Arun Danewa, Sunisha Arora, Parminder Pal Singh, Surbhi Pokhriyal, Nikhil Kumar, Anusha Swaminathan, Neha Rastogi Panda, Madhur Arora, Rahul Bhargava, Vikas Dua

{"title":"Encouraging Outcomes of Hematopoeitic Stem Cell Transplantation in Pediatric Sickle Cell Disease- A Decade-Long Experience from the Developing World.","authors":"Swati Bhayana, Sohini Chakaroborty, Shrinidhi Nathany, Arun Danewa, Sunisha Arora, Parminder Pal Singh, Surbhi Pokhriyal, Nikhil Kumar, Anusha Swaminathan, Neha Rastogi Panda, Madhur Arora, Rahul Bhargava, Vikas Dua","doi":"10.1080/03630269.2025.2568129","DOIUrl":"https://doi.org/10.1080/03630269.2025.2568129","url":null,"abstract":"Sickle cell disease (SCD) is the most common hemoglobinopathy, affecting approximately 300,000 newborns worldwide each year. Hematopoietic stem cell transplantation (HSCT) is the only current curative option for the disease. Still, it is hindered by the availability of suitable donors, socio-economic issues, transplant failure and long-term complications of transplant, including graft-versus-host disease-acute and chronic. To date, there is no standardized protocol for conditioning regimens in SCD patients. A total of 100 pediatric patients diagnosed with sickle cell disease (SCD) underwent allogeneic hematopoietic stem cell transplantation (HSCT) between January 2015 and December 2024. Fifty-five patients (59.8%) underwent HLA-identical sibling-donor, and 37(40.2%) underwent haploidentical transplants. Eighty-three (91.2%) had stable engraftment. The median follow-up time was 31.6 months. Overall survival was 86.9%(95% CI: 79.3%-93.4%) in our cohort of 92 patients transplanted for SCD from either HLA-matched siblings or haploidentical donors, with a median follow-up of 53 months, with EFS of 77% without death or rejection. The survival rates were significantly higher in MSD HSCT (53/55, 96.4% vs 27/37, 78.3%, p < 0.01). The outcomes in haploidentical outcomes have significantly improved (2014-2018 vs 2019 to 2023). The cumulative incidence of acute graft-versus-host-disease (GVHD) was 26% (95% CI - 17.9% to 36.8%) and of chronic GVHD was 8.4% (95% CI - 3.7% to 17.1%) at 2-year post-transplant. Viral reactivations were seen in 18 patients. In haploidentical transplants, we gradually drifted toward reduced toxicity conditioning, including Thio-Flu-Cy-TBI-ATG and found better outcomes through the years. The use of post-transplantation (PTCy) has led to a significantly reduced risk of GVHD.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-6"},"PeriodicalIF":1.0,"publicationDate":"2025-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145232193","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 Dieppe (HBB:c. 383A > G): A Rare Dominant β-Thalassemia in an Iraqi Kurdish Family. 血红蛋白（HBB:c）。383A > G)：伊拉克库尔德家族罕见显性β-地中海贫血。

IF 1 4区医学

Hemoglobin Pub Date : 2025-10-05 DOI: 10.1080/03630269.2025.2567265

Tara Jamel Osman, Ashna H Karim, Rozhgar A Khailany, Khalida A Mohammed, Luqman K Rasool, Nasir Al-Allawi

引用次数: 0

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. 16号染色体孤本二体导致的Hb Bart病：只有一方携带α0-地中海贫血的妊娠胎儿需要临床警惕。

IF 1 4区医学

Hemoglobin Pub Date : 2025-09-07 DOI: 10.1080/03630269.2025.2556722

Xing-Mei Xie, Fan Jiang, Qiu-Xia Yu, Dong-Zhi Li

引用次数: 0

Molecular Diagnosis and Stability Testing of Hemoglobin Phnom Penh [HBA1: C.353_355dup (p.Phe118_Thr119insIle)] - The First Northern Thai Case. 金边血红蛋白的分子诊断和稳定性检测[HBA1: C.353_355dup (p. phe118_thr119inile)] -泰国北部首例病例。

IF 1 4区医学

Hemoglobin Pub Date : 2025-08-31 DOI: 10.1080/03630269.2025.2553039

Phurachan Wongkuna, Siriraj Boontha, Pinyaphat Khamphikham

引用次数: 0

Identification of a New δ chain hemoglobin Variant, Hb A2-Malay [δ46(CD5)Gly > Arg, HBD: C.139G > C;316-443A > G]. 一种新的δ链血红蛋白变异Hb A2-Malay的鉴定[δ46(CD5)Gly > Arg, HBD: C. 139g > C;316-443A > G]。

IF 1 4区医学

Hemoglobin Pub Date : 2025-08-19 DOI: 10.1080/03630269.2025.2539901

Syahzuwan Hassan, Ezalia Esa, Norafiza Mohd Yasin, Faidatul Syazlin Abdul Hamid, Ermi Neiza Mohd Sahid, Azian Naila Md Nor, Suguna Somasundram, Nur Aisyah Aziz, Yuslina Mat Yusoff

{"title":"Identification of a New δ chain hemoglobin Variant, Hb A2-Malay [δ46(CD5)Gly > Arg, HBD: C.139G > C;316-443A > G].","authors":"Syahzuwan Hassan, Ezalia Esa, Norafiza Mohd Yasin, Faidatul Syazlin Abdul Hamid, Ermi Neiza Mohd Sahid, Azian Naila Md Nor, Suguna Somasundram, Nur Aisyah Aziz, Yuslina Mat Yusoff","doi":"10.1080/03630269.2025.2539901","DOIUrl":"10.1080/03630269.2025.2539901","url":null,"abstract":"We report a novel δ-chain hemoglobin (Hb) variant, designated Hb A2-Malay [HBD:c.139G > C;316-443A > G], identified in 19 Malaysian Malay individuals. This variant was consistently observed in both Capillary Electrophoresis (CE) Zone 1 and High-Performance Liquid Chromatography (HPLC) S-window analyses. Sanger sequencing revealed a new G > C substitution at the first base of codon 46 within the HBD gene, leading to a glycine to arginine amino acid change. Additionally, a cis-acting polymorphism, an A to G substitution at intron II position 456, was genotyped in all carriers. Routine genetic testing for common α-thalassemia, using Gap-PCR and Amplification Refractory Mutation System, was also performed. Four carriers exhibiting similar hematological indices were found to have a concomitant heterozygous -α3.7 mutation. Furthermore, three βE carriers demonstrated higher Zone 1 and S-window percentages.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-5"},"PeriodicalIF":1.0,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144872986","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

HbH Disease in an Elderly Man Due to Compound Heterozygosity for Deletional α-Thalassemia and Hb Dubai (HBA2:c.368A > T). 缺失α-地中海贫血和迪拜血红蛋白复合杂合性导致的老年男性HbH疾病（HBA2:c.368A > T）。

IF 1 4区医学

Hemoglobin Pub Date : 2025-08-12 DOI: 10.1080/03630269.2025.2544838

T Ruchika Devi, Prasad Dange, Roopam Deka, Rituparna Chetia, Sankappa Sinhasan, Sanjeev Chhabra, Jasbir Kaur Hira, Prashant Sharma

引用次数: 0

Sickling Disorder Caused by Co-Inheritance of Hemoglobin Maputo and Hemoglobin S: Case Report and Review of the Literature. 血红蛋白Maputo与血红蛋白S共同遗传致镰状病变：病例报告及文献复习。

IF 1 4区医学

Hemoglobin Pub Date : 2025-08-12 DOI: 10.1080/03630269.2025.2537094

Sakina Loonat, Nitien Naran, Narisha Ramparsad, Nadia Beringer, Mishalan Moodly, Arshad Ismail, Michelle Bronze, Gail Faller, Nazeer Alli

{"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":"https://doi.org/10.1080/03630269.2025.2537094","url":null,"abstract":"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.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-6"},"PeriodicalIF":1.0,"publicationDate":"2025-08-12","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}

引用次数: 0

An HBB Intron 1 Variant (c.92 + 9C > T) Suggestive of β-Thalassemia Trait. 提示β-地中海贫血特征的HBB内含子1变异（c.92 + 9C > T）。

IF 1 4区医学

Hemoglobin Pub Date : 2025-08-11 DOI: 10.1080/03630269.2025.2545550

Sara Ferrer Benito, Belén Ortega Montero, Jorge Martínez Nieto, María José Murúzabal Sitges, Fernando Ataúlfo González Fernández, Celina Benavente Cuesta, Paloma Ropero

{"title":"An HBB Intron 1 Variant (c.92 + 9C > T) Suggestive of β-Thalassemia Trait.","authors":"Sara Ferrer Benito, Belén Ortega Montero, Jorge Martínez Nieto, María José Murúzabal Sitges, Fernando Ataúlfo González Fernández, Celina Benavente Cuesta, Paloma Ropero","doi":"10.1080/03630269.2025.2545550","DOIUrl":"https://doi.org/10.1080/03630269.2025.2545550","url":null,"abstract":"We describe the identification of an intronic variant in the β-globin gene (HBB: c0.92 + 9C > T) in a 41-year-old Spanish male presenting with microcytosis and hypochromia in the absence of iron deficiency. This variant, located in intron 1 of the HBB gene, was identified using the Devyser Thalassemia NGS kit and confirmed by Sanger sequencing. In silico predictions suggest potential splicing disruption. The hematological profile was consistent with β-thalassemia trait, although Hb A2 values were within normal ranges. This variant is not reported in public databases and is currently classified as of uncertain significance with moderate pathogenic potential according to ACMG criteria. This discrepancy between bioinformatic predictions and clinical classification is discussed. The variant has been submitted to both HbVar and IthaGenes databases (submission ID pending). This report contributes to the expanding catalog of HBB variants and underscores the diagnostic relevance of intronic regions.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-3"},"PeriodicalIF":1.0,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144821289","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

The Risk of Rapid Deterioration of Sepsis in the Patient with Non-Transfusion-Dependent Thalassemia: A Case Report. 非输血依赖型地中海贫血患者败血症迅速恶化的风险：一例报告。

IF 1 4区医学

Hemoglobin Pub Date : 2025-08-07 DOI: 10.1080/03630269.2025.2543328

Huiling Gan, Hang Yu, Hidetaka Hara, Tao Li, Yuxiang Chen, Yi Wang

{"title":"The Risk of Rapid Deterioration of Sepsis in the Patient with Non-Transfusion-Dependent Thalassemia: A Case Report.","authors":"Huiling Gan, Hang Yu, Hidetaka Hara, Tao Li, Yuxiang Chen, Yi Wang","doi":"10.1080/03630269.2025.2543328","DOIUrl":"https://doi.org/10.1080/03630269.2025.2543328","url":null,"abstract":"Non-transfusion-dependent thalassemias (NTDT), including thalassemia intermedia (TI), are often perceived as less severe than their transfusion-dependent counterparts. However, they impose a significant health burden, manifesting in complications such as splenomegaly, iron overload, skeletal deformities, and cardiopulmonary diseases. This case report aims to enhance understanding of the complexities associated with NTDT, particularly regarding the rapid progression of infection and the associated challenges in management. We report the case of a 62-year-old male farmer from a high-incidence region of thalassemia in China. He was diagnosed with αNTDT during a medical evaluation. His baseline hemoglobin levels were 7 g/dL at the time of genetic testing for thalassemia and 7.2 g/dL upon hospital admission prior to infection. His clinical phenotype was classified as thalassemia intermedia. The patient presented with significant comorbidities, including chronic anemia, iron overload, and pulmonary hypertension, which contributed to his rapid clinical deterioration. Within two months of his definitive diagnosis, the patient developed sepsis that rapidly progressed to multiple organ dysfunction syndrome, leading to death 43 h after admission. Sepsis in patients with NTDT progresses rapidly and is associated with a high mortality rate, primarily due to the compounded burden of chronic anemia, iron overload, and immune dysfunction. This case highlights the need for increased clinical awareness to facilitate early diagnosis and prompt management, even in αNTDT, which is generally considered a milder disorder compared to βNTDT. Enhancing community awareness and implementing proactive healthcare strategies, particularly in high-incidence areas, may significantly reduce adverse health outcomes in patients with NTDT.","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-7"},"PeriodicalIF":1.0,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144798955","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

Therapeutic Response to Hydroxyurea in Beta-Thalassemia Intermedia with Rare Mutation: A Case Report. 羟基脲治疗罕见突变β -地中海贫血的疗效：1例报告。

IF 1 4区医学

Hemoglobin Pub Date : 2025-08-07 DOI: 10.1080/03630269.2025.2543327

Hassan Fawaz, Mohammad Hassan Hodroj, Nicole Charbel, Sacha El Khoury, Ali Taher

引用次数: 0

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