TransfusionPub Date : 2025-01-01Epub Date: 2024-11-11DOI: 10.1111/trf.18057
Augusto Cezar-Schmidt, Jeffrey Jean, Patricia Lee, Sunitha Vege, Connie M Westhoff, Jay P Hudgins
{"title":"A splice site variant defining the novel RHD*01(487-3G) allele in trans to RHD*DAR1.2.","authors":"Augusto Cezar-Schmidt, Jeffrey Jean, Patricia Lee, Sunitha Vege, Connie M Westhoff, Jay P Hudgins","doi":"10.1111/trf.18057","DOIUrl":"10.1111/trf.18057","url":null,"abstract":"","PeriodicalId":23266,"journal":{"name":"Transfusion","volume":" ","pages":"E4-E6"},"PeriodicalIF":2.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11747121/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142629002","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
TransfusionPub Date : 2025-01-01Epub Date: 2024-12-08DOI: 10.1111/trf.18088
Anita Howell, Angela Hill, Wanda Lefresne, Brandie Dennis, Tracey R Turner, Qi-Long Yi, Carly Olafson, Nishaka William, Jason P Acker
{"title":"Impact of input volume on red cell quality in deglycerolized RBCs using a modified ACP-215 protocol.","authors":"Anita Howell, Angela Hill, Wanda Lefresne, Brandie Dennis, Tracey R Turner, Qi-Long Yi, Carly Olafson, Nishaka William, Jason P Acker","doi":"10.1111/trf.18088","DOIUrl":"10.1111/trf.18088","url":null,"abstract":"<p><strong>Background: </strong>The ACP 215 automated cell processor is used to glycerolize and deglycerolize red cell concentrates (RCCs). Its primary advantage over the COBE 2991, previously used to cryopreserve RCCs, is that it maintains a closed system enabling extended post-thaw expiry. However, it was observed that post-deglycerolization hematocrits (Hct) of units processed with the LN236 kit are markedly lower than those processed using the COBE 2991. Therefore, we intended to determine whether a modified process using a smaller volume deglycerolization kit (LN235) could increase the final Hct with limited deleterious effects on product characteristics.</p><p><strong>Study design and methods: </strong>Two proof-of-concept (POC) studies, conducted to determine the feasibility of using the LN235 processing kit for deglycerolization, identified the necessary modifications to the pre- and post-deglycerolization process, after which a two-part study characterized the modified protocol. The impact of pre-cryopreservation storage duration (7-21 days), input red cell mass, and the type of CPD/SAGM RCC production method (red cell filtration and whole blood filtration) were investigated.</p><p><strong>Results: </strong>Using the LN235 kit in conjunction with a volume reduction step for RCCs with a red cell mass exceeding 180 mL allowed for an ~8% increase in Hct. As expected, slightly lower recoveries were seen for large RCCs due to volume reduction; however, there were no other detrimental outcomes on product quality.</p><p><strong>Conclusions: </strong>Leveraging the LN235 kit, recommended by Haemonetics for units with a red cell mass of ≤180 mL, can be used to increase the post-deglycerolization Hct of RCCs that exceed this volume.</p>","PeriodicalId":23266,"journal":{"name":"Transfusion","volume":" ","pages":"194-201"},"PeriodicalIF":2.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11747085/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142795221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
TransfusionPub Date : 2025-01-01Epub Date: 2024-11-24DOI: 10.1111/trf.18073
Robert Sheppard Nickel, Stefanie Margulies, Karuna Panchapakesan, Elizabeth Chorvinsky, Gustavo Nino, Marcin Gierdalski, James Bost, Naomi L C Luban, Jennifer Webb
{"title":"Adding hydroxyurea to chronic transfusion therapy for sickle cell anemia reduces transfusion burden.","authors":"Robert Sheppard Nickel, Stefanie Margulies, Karuna Panchapakesan, Elizabeth Chorvinsky, Gustavo Nino, Marcin Gierdalski, James Bost, Naomi L C Luban, Jennifer Webb","doi":"10.1111/trf.18073","DOIUrl":"10.1111/trf.18073","url":null,"abstract":"<p><strong>Background: </strong>Chronic red blood cell (RBC) transfusion is an established therapy to prevent stroke in patients with sickle cell anemia (SCA). It is unclear if adding daily hydroxyurea treatment to chronic transfusion is beneficial.</p><p><strong>Study design and methods: </strong>We conducted a phase 2 clinical trial (NCT03644953) investigating the addition of dose-escalated hydroxyurea to chronic transfusion for patients with SCA receiving simple chronic transfusion for stroke prevention. Simple chronic transfusion therapy was administered as per the same protocol before and after hydroxyurea treatment in which the volume transfused was dependent on the pretransfusion hemoglobin (Hb).</p><p><strong>Results: </strong>A total of 14 participants enrolled with nine completing one year of combination hydroxyurea and transfusion (HAT) therapy after reaching hydroxyurea target dose. No participant who discontinued the study prematurely had a serious adverse event attributed to HAT. Among the nine participants who completed the study, eight participants achieved a reduction in RBC transfusion volume with a median reduction of -19.4 mL/kg/year (interquartile range -31.8, -2.8 mL/kg/year), p = .02, when comparing pre- and post-HAT time periods. With the addition of hydroxyurea participants had a significant increase in pretransfusion Hb S% but this was balanced by an increased Hb F% and decreased lactate dehydrogenase. One participant developed a pretransfusion Hb >11 g/dL and Hb S > 45% that required holding hydroxyurea and changing to partial manual exchange transfusions. No patient had evidence of cerebrovascular disease progression.</p><p><strong>Discussion: </strong>Hydroxyurea added to chronic transfusion therapy for patients with SCA is feasible and decreases RBC transfusion volume requirements.</p>","PeriodicalId":23266,"journal":{"name":"Transfusion","volume":" ","pages":"38-49"},"PeriodicalIF":2.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11750600/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142711135","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
TransfusionPub Date : 2025-01-01Epub Date: 2024-11-30DOI: 10.1111/trf.18082
Yvonne Dei-Adomakoh, Edeghonghon Olayemi, Susan Telke, Lucy Asamoah-Akuoko, Bernard Appiah, Catherine Segbefia, Caitlin Ward, Tara Tancred, Alfred Edwin Yawson, Seth Adu-Afarwuah, Amma Benneh Akwasi-Kuma, Solomon Fiifi Ofori-Acquah, Philip Baba Adongo, Michael Ebo Acquah, Reena Ametorwo, Imelda Bates, Francis Agyei, Meghan Delaney, Cavan Reilly
{"title":"Impact of iron supplementation among anemic voluntary first-time blood donors: Results from the BLOODSAFE pilot trial in Ghana.","authors":"Yvonne Dei-Adomakoh, Edeghonghon Olayemi, Susan Telke, Lucy Asamoah-Akuoko, Bernard Appiah, Catherine Segbefia, Caitlin Ward, Tara Tancred, Alfred Edwin Yawson, Seth Adu-Afarwuah, Amma Benneh Akwasi-Kuma, Solomon Fiifi Ofori-Acquah, Philip Baba Adongo, Michael Ebo Acquah, Reena Ametorwo, Imelda Bates, Francis Agyei, Meghan Delaney, Cavan Reilly","doi":"10.1111/trf.18082","DOIUrl":"10.1111/trf.18082","url":null,"abstract":"<p><strong>Introduction: </strong>In sub-Saharan Africa (SSA), an adequate supply of safe blood for transfusion is a major developmental challenge. In Ghana, deferral from blood donation for anemia accounts for nearly half of the ineligible blood donors. We conducted a longitudinal two-arm parallel-group non-inferiority trial to test if iron supplementation among blood donors with iron deficiency (ID) or anemia could increase their hemoglobin levels to near those without ID or anemia.</p><p><strong>Materials and methods: </strong>A structured questionnaire was used to collect participants' sociodemographic and medical information after written informed consent was obtained. Blood samples were analyzed for full blood count (FBC), serum ferritin, malaria rapid test, and a peripheral blood smear. The primary outcome was hemoglobin level after 4 months comparing anemic donors who received iron supplementation to the standard of care participants, nonanemic donors who did not receive iron supplementation. All donors received nutritional counseling.</p><p><strong>Results: </strong>Adherence to low-dose iron supplementation three times a week was poor. Hemoglobin levels in the iron supplementation arm were not close enough to those in the control group after 4 months of iron supplementation to declare non-inferiority. However, non-inferiority was met when the 4 month hemoglobin comparison was restricted to female donors.</p><p><strong>Conclusion: </strong>After 4 months of iron supplementation, hemoglobin levels in the iron supplementation group did not sufficiently match those in the control group to declare non-inferiority. Data from this pilot trial informed and shaped the design of a larger randomized control type 1 pragmatic effectiveness implementation hybrid trial which is currently ongoing.</p>","PeriodicalId":23266,"journal":{"name":"Transfusion","volume":" ","pages":"131-139"},"PeriodicalIF":2.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11750598/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142772689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Comparison of two inline photopheresis systems: A paired crossover trial.","authors":"Nicola Piccirillo, Rossana Putzulu, Federica Fatone, Giuseppina Massini, Sabrina Giammarco, Elisabetta Metafuni, Maria Assunta Limongiello, Patrizia Chiusolo, Simona Sica, Luciana Teofili","doi":"10.1111/trf.18090","DOIUrl":"10.1111/trf.18090","url":null,"abstract":"<p><strong>Background: </strong>Extracorporeal photopheresis (ECP) has been demonstrated as an effective treatment for graft-versus-host disease (GvHD). The inline system was developed by Therakos in 1987. Recently, Fresenius Kabi implemented an integration of cell separator Amicus and a UVA photoactivation device (Phelix), realizing an inline photopheresis system.</p><p><strong>Study design and methods: </strong>In 2022 we designed a prospective paired crossover trial (NCT05718674) comparing two integrated ECP protocols: Therakos CELLEX and Amicus ECP system. Twenty patients affected by corticosteroid resistant GvHD were submitted to 80 ECP, 40 paired procedures.</p><p><strong>Results: </strong>All procedures were well tolerated, with no significant differences in procedure duration. CELLEX cell product showed higher granulocytes and platelet content, while Amicus cell product exhibited higher enrichment of lymphocytes, resulting in significantly higher MNC purity (92.9% vs. 84%). A significantly higher granulocytes and platelets absolute content was observed in CELLEX cell products, while Amicus cell products showed a significantly higher number of TNCs and MNCs. Differences in granulocyte and platelet content remained significant even after normalization of the data according to blood volume processed. These findings are confirmed by a statistically significant higher CE2% for CELLEX for granulocytes and platelets along with the lack of significant difference observed for TNCs and MNCs.</p><p><strong>Discussion: </strong>Our analysis shows differences in the characteristics of the procedure and the cell product. Anyway, both devices are effective for performing ECP procedure, as they collect a cell product suitable for photopheresis. At present, our results represent the first data set comparing two available inline ECP devices.</p>","PeriodicalId":23266,"journal":{"name":"Transfusion","volume":" ","pages":"159-169"},"PeriodicalIF":2.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142795219","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
TransfusionPub Date : 2025-01-01Epub Date: 2024-12-09DOI: 10.1111/trf.17973
D Fischer, M A Weigand, R Moss, S Veiras, B Kübel, J A Garcia-Erce, K Zacharowski, P Meybohm, J H Waters, S J Raasveld, A P J Vlaar, T Richards, J Meier, S Lasocki, A Hofmann, A Shander, C von Heymann, G Dietrich, D Fries, A U Steinbicker, M B Rondinelli, J H Levy, G Beck, T Frietsch
{"title":"Incorporating the concept of overtransfusion into hemovigilance monitoring: An expert-based definition and criteria from the International HIT-OVER Forum.","authors":"D Fischer, M A Weigand, R Moss, S Veiras, B Kübel, J A Garcia-Erce, K Zacharowski, P Meybohm, J H Waters, S J Raasveld, A P J Vlaar, T Richards, J Meier, S Lasocki, A Hofmann, A Shander, C von Heymann, G Dietrich, D Fries, A U Steinbicker, M B Rondinelli, J H Levy, G Beck, T Frietsch","doi":"10.1111/trf.17973","DOIUrl":"10.1111/trf.17973","url":null,"abstract":"<p><strong>Background: </strong>Liberal or overtransfusion (OT) may be regarded as \"inappropriate,\" but it is not reported as a transfusion-related adverse event. A definition of OT is lacking. OT may include overdosing of components, giving the incorrect component, or unnecessary administration without evidence of need for transfusion. OT can be associated with hypercoagulability, thrombosis, alloimmunization, increased mortality, longer hospital stay, increased infection rates, and adverse cardiocirculatory events.</p><p><strong>Study design and methods: </strong>In 2023, an expert panel formed a hemovigilance international taskforce embedded in the German Interdisciplinary Taskforce for Clinical Hemotherapy (IAKH). The group was charged with proposing simple criteria to be used by hemovigilance systems to document instances of OT.</p><p><strong>Results: </strong>This international initiative combined a narrative review of the literature for the rate and outcomes of OT with transfusion error reports to propose a definition for OT, including a definition for transfusion-induced hypercoagulopathy (TIH), three new codes for OT/TIH and subcodes A to G, three severity categories (serious adverse event, adverse event, near miss), and four incident codes (definite, probable, possible, not determinable). These codes can be used by hemovigilance systems to appropriately document instances of OT.</p><p><strong>Conclusions: </strong>Global adoption of these codes within hemovigilance systems would assist with the recognition and reporting of instances of OT, promote effective policies for adequate clinical administration techniques, and support technical guidelines for avoidance of OT. Thereby, incorporation of OT into hemovigilance strategies could support adequate use of blood products, increase patient safety, and facilitate blood supply and availability.</p>","PeriodicalId":23266,"journal":{"name":"Transfusion","volume":" ","pages":"110-121"},"PeriodicalIF":2.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802219","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
TransfusionPub Date : 2025-01-01DOI: 10.1111/trf.18093
{"title":"Continuing Medical Education.","authors":"","doi":"10.1111/trf.18093","DOIUrl":"https://doi.org/10.1111/trf.18093","url":null,"abstract":"","PeriodicalId":23266,"journal":{"name":"Transfusion","volume":"65 1","pages":"170"},"PeriodicalIF":2.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143012278","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
TransfusionPub Date : 2025-01-01Epub Date: 2024-12-18DOI: 10.1111/trf.18072
Emilie Thorup, Frederik Banch Clausen, Thorsten Brodersen, Christoffer D Dellgren, Charlotte Ekelund, Thure Mors Haunstrup, Lone Munch Hansen, Sys Hasslund, Ditte Jørgensen, Lisa Neerup Jensen, Lone Nikoline Nørgaard, Puk Sandager, Rudi Steffensen, Karin Sundberg, Ann Tabor, Cathrine Vedel, Olav Bjørn Petersen, Morten Hanefeld Dziegiel
{"title":"Evaluation of the clinical effect of a nationwide implementation of targeted routine antenatal anti-D prophylaxis in Denmark.","authors":"Emilie Thorup, Frederik Banch Clausen, Thorsten Brodersen, Christoffer D Dellgren, Charlotte Ekelund, Thure Mors Haunstrup, Lone Munch Hansen, Sys Hasslund, Ditte Jørgensen, Lisa Neerup Jensen, Lone Nikoline Nørgaard, Puk Sandager, Rudi Steffensen, Karin Sundberg, Ann Tabor, Cathrine Vedel, Olav Bjørn Petersen, Morten Hanefeld Dziegiel","doi":"10.1111/trf.18072","DOIUrl":"10.1111/trf.18072","url":null,"abstract":"<p><strong>Background: </strong>In 2010, Denmark was the first country to implement a targeted routine antenatal anti-D prophylaxis (tRAADP) program, offering fetal RHD genotyping to all nonimmunized D negative pregnant women. The program represented a shift from only postnatal prophylaxis to a combined antenatal and postnatal prophylaxis. This study aimed to evaluate the clinical effect of tRAADP in Denmark.</p><p><strong>Study design and methods: </strong>This nationwide registry-based cohort study included all D negative women who gave birth between 2004-2020, identified through the National Medical Birth Register and the Departments of Clinical Immunology in Denmark. The clinical effect of tRAADP was assessed by comparing the incidence of new D immunization between 2004-2009 (non-tRAADP-cohort) and 2011-2018 (tRAADP-cohort).</p><p><strong>Results: </strong>A total of 282 women were D immunized during pregnancy between 2004-2009 (non-tRAADP-cohort), and 167 between 2011-2018 (tRAADP-cohort). The incidence of new D immunization decreased from 0.46% (95% CI 0.41-0.52) in the non-tRAADP-cohort to 0.22% (95% CI 0.19-0.25) in the tRAADP-cohort. The risk reduction was statistically significant p < 0.001. Notably, in the tRAADP cohort 0.1% (95% CI 0.08-0.12) of new D immunizations occurred before the time of antenatal prophylaxis.</p><p><strong>Discussion: </strong>tRAADP significantly reduced the incidence of new D immunization by more than half, thus demonstrating the expected effect. However, even with full adherence to the current program, some women with early fetomaternal hemorrhage (FMH) were still at risk. Future studies may evaluate the impact of administering an additional tRAADP dose earlier in the second trimester to prevent this.</p>","PeriodicalId":23266,"journal":{"name":"Transfusion","volume":" ","pages":"29-37"},"PeriodicalIF":2.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847658","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
TransfusionPub Date : 2025-01-01Epub Date: 2024-12-15DOI: 10.1111/trf.18085
M Reza Khoshi, Andrey Skripchenko, Robel Seifu, Karen Byrne, K West-Mitchell, Cathy Conry-Cantilena, Carlos H Villa, Jan Simak, Jaroslav G Vostal
{"title":"Effect of concurrent pathogen reduction (amotosalen/UVA) and gamma/x-ray irradiation on biochemical characteristics of apheresis platelets in additive solution.","authors":"M Reza Khoshi, Andrey Skripchenko, Robel Seifu, Karen Byrne, K West-Mitchell, Cathy Conry-Cantilena, Carlos H Villa, Jan Simak, Jaroslav G Vostal","doi":"10.1111/trf.18085","DOIUrl":"10.1111/trf.18085","url":null,"abstract":"<p><strong>Background: </strong>Pathogen reduction (PR) may be used as an alternative to gamma or x-ray irradiation (I) to prevent transfusion associated graft versus host disease (TA-GVHD) if the pathogen reduction technology has been shown to inactivate residual lymphocytes. However, as I is considered the gold standard for reducing the risk of TA-GVHD, some centers continue to perform I in addition to PR. This study investigated the effect of concurrent pathogen reduction and irradiation (PR/I) on the biochemical characteristics of apheresis platelets at day 1, 5, and 7 of storage at room temperature.</p><p><strong>Methods: </strong>We compared in vitro characteristics of apheresis platelets (PLTs), PR PLTs, I PLTs, and PR/I PLTs at storage day 1, 5, and 7. PLTs from six healthy volunteers were suspended in 65% PAS-3/35% plasma prior to splitting and treatment with PR, I, or PR/I. Parameters measured were: PLT loss, mean PLT volume (MPV), pH, glucose consumption, lactate production, CD62P, annexin V binding, PLT aggregation, mitochondrial membrane potential (MMP), and reactive oxygen species (ROS).</p><p><strong>Results: </strong>PR/I PLTs did not show significant changes in measured parameters when compared to PR PLTs. However, when compared to control PLTs, PR and PR/I PLTs showed significant declines in PLT content, pH, MMP, aggregation and significant increases in MPV, CD62P, annexin V binding, and ROS production, mostly on day 7 of storage. Irradiation did not cause significant changes in measured parameters in comparison to control PLTs.</p><p><strong>Conclusions/summary: </strong>While PR impacts PLTs' biochemical characteristics and function, irradiation of PR PLTs did not cause additional significant changes.</p>","PeriodicalId":23266,"journal":{"name":"Transfusion","volume":" ","pages":"10-16"},"PeriodicalIF":2.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142828679","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
TransfusionPub Date : 2025-01-01Epub Date: 2024-12-15DOI: 10.1111/trf.18096
Marcos Paulo Miola, Janaína Guilhem Muniz, Flávia Leite Souza Santos, Octávio Ricci-Junior, Luiz Carlos de Mattos
{"title":"ABO*cisAB allele with unusual phenotype in a Brazilian family.","authors":"Marcos Paulo Miola, Janaína Guilhem Muniz, Flávia Leite Souza Santos, Octávio Ricci-Junior, Luiz Carlos de Mattos","doi":"10.1111/trf.18096","DOIUrl":"10.1111/trf.18096","url":null,"abstract":"<p><strong>Background: </strong>Among the alleles of the ABO system, cisAB and B(A) are the most intriguing due to their ability to encode a glycosyltransferase that can synthesize both A and B antigens. This dual activity leads to the formation of the AB phenotype, even in the presence of the O allele; resolution is achieved by molecular analyses.</p><p><strong>Case presentation and methods: </strong>We describe herein a Brazilian family in which the mother (M42.1) of group AB and the father (M42.2) of group O have two children of group AB (M42.3 and M42.4). Serological characterization involved ABO and H phenotyping tests and serial dilution of ABO monoclonal antibodies. Characterization of ABO genotypes and alleles were performed by PCR-RFLP and sequencing.</p><p><strong>Results and discussion: </strong>In serological tests, red blood cells from M42.1, M42.3, and M42.4 showed an intermediate reactivity pattern between A<sub>1</sub>B and A<sub>2</sub>B. Molecular analyses revealed the presence of the ABO*O.01.01/O.01.01 genotype in M42.2 and the ABO*cisAB.05/O.01.01 genotype in M42.1, M42.3, and M42.4. The ABO*cisAB.05 allele encodes a glycosyltransferase able to synthesize A and B antigens in quantities sufficient to cause an agglutination reaction higher than that observed in A<sub>2</sub>B phenotypes.</p><p><strong>Conclusion: </strong>The combination of serological and molecular methods used in this study allowed us to determine the serological pattern, identify the ABO alleles, and explain the inheritance of the AB phenotype in this family.</p>","PeriodicalId":23266,"journal":{"name":"Transfusion","volume":" ","pages":"240-245"},"PeriodicalIF":2.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142830016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}