Molecular polymorphisms of human blood groups

Mattos, Luiz Carlos de

doi:10.5581/1516-8484.20110005

Cited by 3 publications

(2 citation statements)

References 13 publications

(9 reference statements)

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“…This is common among African and African-Americans and is associated with resistance to malaria infection. 13, 14 Variations in ACKR1 are also associated with a survival advantage in leukopenic HIV patients. 15 The recessive African-specific ACKR1 null allele increases the risk of HIV-1 infection.…”

Section: Introductionmentioning

confidence: 99%

Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians

et al. 2022

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There have been no comprehensive studies of a full range of blood group polymorphisms within the Australian population. The problem is compounded by the absence of any databases carrying genomic information on chronically transfused patients and low frequency blood group antigens in Australia. Here, we use RBCeq, a web server-based blood group genotyping software, to identify unique blood group variants among Australians and compare the variation detected versus global data. Whole genome sequencing data was analysed for 2796 healthy older Australians from the Medical Genome Reference Bank and compared with data from 1000G phase 3 (1KGP3) databases comprising 661 African, 347 American, 503 European, 504 East Asian, and 489 South Asian participants. There were 661 rare variants detected in this Australian sample population, including nine variants that had clinical associations. Notably, we identified 80 variants that were computationally predicted to be novel and deleterious. No clinically significant rare or novel variants were found associated with the genetically complex ABO blood group system. For the Rh blood group system, two novel and 15 rare variants were found. Our detailed blood group profiling results provide a starting point for the creation of an Australian blood group variant database.

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Section: Introductionmentioning

confidence: 99%

Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians

et al. 2022

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“…The absence of FY glycoprotein genotype is common among Africans and African-Americans, conferring these populations with resistance to malaria infection. 13,14 Variations in ACKR1 are also associated with a survival advantage in leukopenic HIV patients. 15 The recessive African-specific ACKR1 null allele increases the risk of HIV-1 infection.…”

Section: Introductionmentioning

confidence: 99%

Using Whole Genome Sequencing to Characterize Clinically Significant Blood Groups Among Healthy Older Australians

Jadhao

Davison

Roulis

et al. 2021

Preprint

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There have been no comprehensive studies of a full range of blood group polymorphisms within the Australian population. The problem is compounded by the absence of any databases carrying genomic information on chronically transfused patients and low frequency blood group antigens in Australia. Here, we use RBCeq, a web server-based blood group genotyping software, to identify unique blood group variants among Australians and compare the variation detected versus global data. Whole genome sequencing data was analysed from for 2796 healthy older Australians from the Medical Genome Reference Bank and compared with data from 1000G phase 3 (1KGP3) databases comprising 661 African, 347 American, 503 European, 504 East Asian, and 489 South Asian participants. There were 688 rare variants detected in this Australian sample population, including nine variants that had clinical associations. Notably, we identified 149 variants that were computationally predicted to be novel and deleterious. No clinically significant rare or novel variants were found associated with the genetically complex ABO blood group system. For the Rh blood group system one novel and 16 rare variants were found. Our detailed blood group profiling results provide a starting point for the creation of an Australian blood group variant database.

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Red Blood Cell Alloimmunization in Transfused Patients With Sickle Cell Disease in Sub-Saharan Africa; a Systematic Review and Meta-Analysis

Antwi-Boateng

Ngoma

Bates

et al. 2019

Transfusion Medicine Reviews

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Sickle cell disease (SCD) is the most common monogenic disorder in sub-Saharan Africa (SSA). Blood transfusion to increase the oxygen carrying capacity of blood is vital in the management of many patients with SCD. However, red blood cell (RBC) alloimmunization is a major challenge to transfusions in these patients. Commonly in SSA, pre-transfusion tests only involve ABO D grouping and compatibility without RBC antibody testing. Data on the frequency of RBC alloimmunization in patients with SCD in SSA is limited. We performed a systematic review and meta-analysis on available data on alloimmunization in transfused patients with SCD to determine the published prevalence of RBC alloimmunization in SCD patients in SSA. Six databases were systematically searched to identify relevant studies, without year or language restrictions. In all, 249 articles were identified and 15 met our selection criteria. The overall proportion of alloimmunization was 7.4 (95% CI: 5.1-10.0), per 100 transfused patients. Antibodies against E, D, C and K antigens accounted for almost half of antibody specificities and antibodies to low and high frequency antigens were also common and represented almost 30% (20% to low frequency antigens and 9% to high frequency antigens) of specificities. Heterogeneity between studies was moderate and meta-analysis found region of Africa as the major contributor to the heterogeneity. We also observed inconsistencies across studies in reporting of factors that may influence alloimmunization. This review provides an overview of the extent of the alloimmunization problem in SSA and provides a baseline against which to compare the effect of any interventions to reduce the alloimmunization risk.

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Molecular polymorphisms of human blood groups

Cited by 3 publications

References 13 publications

Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians

Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians

Using Whole Genome Sequencing to Characterize Clinically Significant Blood Groups Among Healthy Older Australians

Red Blood Cell Alloimmunization in Transfused Patients With Sickle Cell Disease in Sub-Saharan Africa; a Systematic Review and Meta-Analysis

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