Genotyping of Kell, Duffy, Kidd and RHD in patients with beta Thalassemia

Castilho, Lilian; Rios, María; Pellegrino, J.; Carvalho, Maria Helena; Alberto, Fernando; Saad, Sara T. Olalla; Costa, Fernando Ferreira

doi:10.1590/s1516-84842000000200003

Cited by 5 publications

(9 citation statements)

References 25 publications

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“…In contrast to a number of previous studies [ 6 , 18 , 20 , 21 , 22 ], our data do not suggest the presence of additional Duffy system alleles (which are known to be associated with reduced or abolished gene expression) either in patients or in donors. This is likely due to the fact that only genotypes of the Caucasian population were tested in our study.…”

Section: Discussioncontrasting

confidence: 99%

“…Our data suggest the need for blood group genotyping (including the Duffy and Kidd systems), which was proposed by many authors [ 1 , 2 , 3 , 4 , 5 , 6 , 7 , 11 , 13 , 16 , 18 , 19 , 20 , 23 , 24 , 25 ]. Nevertheless, one should determine when genotyping should replace serology or be combined with it for patients undergoing long-lasting RBC transfusions.…”

Section: Discussionmentioning

confidence: 59%

“…We agree with the many authors who state that antigen typing of recently transfused patients is not always accurate, as their peripheral blood contains transfused cells [ 5 , 6 , 13 , 18 , 19 ]. Several reports describe this type of discrepancy in up to 10% of cases for the Duffy and Kidd systems by comparing phenotyping and genotyping results [ 6 , 18 , 20 ]. These findings differ from our data, which showed a much higher rate of discrepancies (32.7% and 31.7%), although the results cannot be accurately compared because other authors failed to provide information about the number of transfused RBC units or the time frame from the last transfusion.…”

Section: Discussionmentioning

confidence: 99%

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Duffy and Kidd Genotyping Facilitates Pretransfusion Testing in Patients Undergoing Long-Term Transfusion Therapy

Remeikienė¹,

Ugenskienė²,

Inčiūra³

et al. 2014

Tjh

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Objective: Conventional serologic typing of red blood cell systems other than ABO and RhD can be inaccurate and difficult to interpret in patients who have recently undergone blood transfusion. While molecular-based assays are not used routinely, the usefulness of genotyping was investigated in order to determine patients who may benefit from this procedure. Materials and Methods: Blood samples were taken from 101 patients with haemato-oncological, chronic renal, or gastroenterological diseases and from 50 donor controls; the samples were tested for Fya and Fyb by applying serologic and genetic methods. All patients had received 3 or more units of RBCs during the last 3 months. An average of 6.1 RBC units were transfused per patient. The average length of time from transfusion until blood sampling was 24.4 days. The haemagglutination test was applied for serological analysis, and the restriction length polymorphism assay was used for genotyping.Results: In total, 33 (32.7%) patients showed positive reactions with anti-Fya or anti-Fyb while being negative genetically. False-positive Fya results were found in 23 samples, and false-positive Fyb in 10 specimens. During the last 3 months, significantly more RBC units were transfused to patients with discrepant results than to those with accurate phenotyping/genotyping results: median of 5 (mean ± SE: 6.85±0.69) versus median of 4 (mean: 5.71±0.51), respectively (p=0.025). The median length of time after the last transfusion was 25 days (mean: 28.72±2.23 days) in the group with accurate phenotyping/genotyping results versus a median of 14 days (mean: 15.52±1.95 days) in the group with discrepant results (p=0.001). Phenotypes and genotypes coincided in all donor samples.Conclusion: Genotyping assays for the Duffy system should be considered if the patient underwent blood transfusion less than 3 or 4 weeks before the sample collection. If the time frame from RBC transfusion exceeds 6 weeks, Duffy phenotyping can provide accurate results.

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Section: Discussioncontrasting

confidence: 99%

Section: Discussionmentioning

confidence: 59%

Section: Discussionmentioning

confidence: 99%

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Duffy and Kidd Genotyping Facilitates Pretransfusion Testing in Patients Undergoing Long-Term Transfusion Therapy

Remeikienė¹,

Ugenskienė²,

Inčiūra³

et al. 2014

Tjh

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“…Castilho et al genotyped 50 β-thalassemia patients for RhD, Kell, Duffy and Kidd antigens and compared their results with serological method. They reported discrepancies in 5 cases [17]. Whereas Reid et al did genotyping in 60 recently transfused patients for Rh, Kell, Duffy, Kidd and MNS antigens [16], they reported mixed field reactions in all 60 patients for more than one antigen typing while molecular analysis gave only one result without any chimerism.…”

Section: Discussionmentioning

confidence: 97%

“…The PCR analysis for the presence of RHD was performed using two genomicregions, intron 4 and exon 10. PCR mixture used was optimized to 50 pM of each primer (SIGMA USA), 200 μM of each dNTP (Saffron Life Sciences, Guajrat, India), 1. i PCR-RFLP for Kell, Duffy and Kidd antigens [16,17].…”

Section: Molecular Investigationsmentioning

confidence: 99%

Comparison of serology and molecular detection of common red cell antigens in multitransfused thalassemia major and sickle cell disease patients

Shah

Patel

et al. 2020

Transfusion and Apheresis Science

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Background: Serological testing for extended RHCcEe, Kell, Kidd and Duffy blood grouping from multitransfused patients may not give correct blood grouping of the recipient. Hence molecular testing for these blood groups was compared with serological groups in a cohort of multitransfused thalassemia mjor and sickle cell anaemia patients. Objective: Molecular genotyping of antigens of Rh (D, C, c, E, e), Kell (K, k), Duffy (Fy a , Fy b) and Kidd (Jk a , Jk b) blood group antigens by PCR and PCR-RFLP methods and comparison of predicted genotypes with their serological phenotypes. Materials and methods: A cohort of multitransfused thalassemia and sickle cell anemia patient were serologically and molecularly tested for RHCc, RHEe, K, k Fy a , Fy b , Jk a and Jk b antigens and compared. Serological testing was done by tube agglutination and molecular testing was done either by allele specific PCR or by RFLP technique just before next transfusion. Results: In more than 80% of the cases recipient's molecular testing blood groups were at variance with serologically tested blood groups (p < 0.0001). Mixed field reactions in serological typing were common. In sickle cell anemia patients no discrepancy was found. Molecular technique results were checked by Sanger's sequencing. Discussion: Extended phenotyping in multitransfused thalassemia patients by serological technique often donot detect the exact red cell phenotype of the recipient and molecular techniques for such grouping is preferable, especially in multitransfused thalassemia patients where red cells from previous transfusions continues to be present in significant numbers whenever the testing is done.

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Blood group genotyping in alloimmunized multi‐transfused thalassemia patients from Iran

Sarihi

Oodi

tehrani

et al. 2021

Molec Gen & Gen Med

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Objectives Serological methods may not be reliable for RBC antigen typing, especially in multi‐transfused patients. The blood group systems provoking the most severe transfusion reactions are mainly Rh, Kell, Kidd, and Duffy. We intended to determine the genotype of these blood group system antigens among Iranian alloimmunized thalassemia patients using molecular methods and compare the results with serological phenotyping. Methods Two hundred patients participated in this study. Blood group phenotype and genotype were determined using the serological method and PCR‐SSP, respectively. The genotypes of patients with incompatibility between phenotype and genotype were re‐evaluated by RFLP‐PCR and confirmed by DNA sequencing. Results Discrepancies between phenotype and genotype results were found in 132 alleles and 83 (41.5%) patients; however, there was complete accordance between the three genotyping methods. Most discrepancies were detected in Rh and Duffy systems with 47 and 45 cases, respectively, and the main discrepancy was in the FY*B/FY*B allele when serologically showed Fy(a+b+). All 39 undetermined phenotypes, due to mixed‐field reactions, were resolved by molecular genotyping. Conclusion Molecular genotyping is more reliable compared with the serological method, especially in multi‐transfused patients. Therefore, the addition of blood group genotyping to serological assays can lead to an antigen‐matched transfusion in these patients.

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Genotyping of Kell, Duffy, Kidd and RHD in patients with beta Thalassemia

Cited by 5 publications

References 25 publications

Duffy and Kidd Genotyping Facilitates Pretransfusion Testing in Patients Undergoing Long-Term Transfusion Therapy

Duffy and Kidd Genotyping Facilitates Pretransfusion Testing in Patients Undergoing Long-Term Transfusion Therapy

Comparison of serology and molecular detection of common red cell antigens in multitransfused thalassemia major and sickle cell disease patients

Blood group genotyping in alloimmunized multi‐transfused thalassemia patients from Iran

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