Blood Groups of some Australian Aborigines of the Western Desert

Scott, Ian; Scott, Mary Katherine

doi:10.1038/212545a0

Cited by 3 publications

(5 citation statements)

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“…Several groups conducted blood group serology studies on Indigenous Australians from different regions in the mid‐20th century, reporting frequencies for a limited number of blood group antigens . These serology‐based blood group frequencies for Indigenous Australians of the Western Desert agree closely with the predicted phenotypes generated from next‐generation sequencing data in our study.…”

Section: Discussionsupporting

confidence: 84%

“…Therefore, including CH/RG, for these 21 blood group systems plus GATA1 and KLF1, the predicted phenotype for all 72 individuals is predicted to be the same as for the human reference genome (hg19) . The predicted occurrence frequencies of these phenotypes are consistent with that reported for Western Desert Indigenous Australians where available and comparable to those for other major world populations . This highlights the conservation of these RBC membrane proteins and transferases across populations (Table ).…”

Section: Resultssupporting

confidence: 73%

“…Blood group antigen profiles for some population groups, for example, Europeans, are reasonably well characterized, but limited data is available on the Indigenous Australian population. From the 1940s to early 1970s, serology was used in studies on Indigenous Australian population groups to test for a limited number of antigens in 11 of the 36 blood group systems . These studies compared the blood group profiles for Indigenous Australians to other population groups and showed distinct blood group profiles for Indigenous Australians.…”

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confidence: 99%

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Comprehensive blood group antigen profile predictions for Western Desert Indigenous Australians from whole exome sequence data

et al. 2018

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BACKGROUND The distribution of RBC antigens, which define blood group types, differs among populations. In contrast to many world populations, blood group profiles for Indigenous Australians have not been well studied. As it is now possible to predict comprehensive blood group antigen profiles from genomic data sets, we aimed to apply this for Indigenous Australians and to provide a comparison to other major world populations. STUDY DESIGN AND METHODS Whole exome sequence data for 72 Western Desert Indigenous Australians was provided by the Telethon Kids Institute. Variants (against hg19) were annotated using computer software (ANNOVAR, Qiagen Bioinformatics) and filtered to include only variants in genes for 36 blood group systems, and the transcription factors KLF1 and GATA1. The RHCE*C allele and RHD zygosity were identified by copy number variant analysis of sequence alignments. The impact of missense variants was investigated in silico using a meta‐predictor of disease‐causing variants (Meta‐SNP). RESULTS For 21 blood group systems the predicted blood group antigen frequencies were comparable to those for other major world populations. For 13 systems, interesting points of contrast were identified. Furthermore, we identified 12 novel variants, one novel D allele, and four rare variants with potential clinical significance. CONCLUSION This is the first systematic assessment of genomic data to elucidate blood group antigen profiles for Indigenous Australians who are linguistically and culturally diverse. Our study paves the way to understanding the geographic distribution of blood group variants in different Indigenous groups and the associated RBC phenotypes. This in turn is expected to guide transfusion practice for Indigenous individuals.

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Section: Discussionsupporting

confidence: 84%

Section: Resultssupporting

confidence: 73%

mentioning

confidence: 99%

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Comprehensive blood group antigen profile predictions for Western Desert Indigenous Australians from whole exome sequence data

et al. 2018

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“…Blood group antigens are poorly characterized for Indigenous Australians. the most recent serological blood typing for Indigenous populations was performed in the 1960s 51 . Here, we compared the blood group genetic profile of the Indigenous Tiwi participants with those of African, American, Asian, and European populations from the 1KGP3 dataset and other previously published reports.…”

Section: Discussionmentioning

confidence: 99%

“…We compared the blood group antigen profiles of the Tiwi participants with those of other Indigenous Australian populations reported previously, [50][51][52][53][54][55] including Western Desert Indigenous Australians 9 for whom a comprehensive blood group antigen profile prediction was performed using WES (Table 4). 9 Overall, 10% of Tiwi samples in this dataset lacked the high-frequency Yk(a+) antigen belonging to the KN blood group system as compared to 38% of the Western Desert population.…”

Section: Comparison Of Tiwi Blood Group Antigens With Other Indigenou...mentioning

confidence: 99%

The genomic landscape of blood groups in Indigenous Australians in remote communities

et al. 2022

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Background: Red blood cell (RBC) membrane-associated blood group systems are clinically significant. Alloimmunisation is a persistent risk associated with blood transfusion owing to the antigen polymorphisms among these RBCassociated blood groups. Next-generation sequencing (NGS) offers an opportunity to characterize the blood group variant profile of a given individual.Australia comprises a large multiethnic population where most blood donors are Caucasian and blood group variants remain poorly studied among Indigenous Australians. In this study, we focused on the Tiwi Islanders, who have lived in relative isolation for thousands of years. Methods and materials:We predicted the blood group phenotype profiles in the Tiwi (457) and 1000 Genomes Phase 3 (1KGP3-2504) cohort individuals using RBCeq (https://www.rbceq.org/). The predicted phenotype prevalence was compared with the previous literature report. Results: We report, for the first time, comprehensive blood group profiles corresponding to the 35 known blood group systems among the Indigenous Tiwi islander population and identify possible novel antigen variants therein.Our results demonstrate that the genetic makeup of the Tiwi participants is distinct from that of other populations, with a low prevalence of LU (Au[aÀb+]

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The Haematology of Indigenous Australians

Erber¹,

Buck²,

Threlfall³

2004

Hematology

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Prior to European settlement indigenous Australians were hunter-gatherers who lived in geographically isolated small clan groups, also separated by elaborate totemic rules. Today they still reside in isolated communities throughout Australia but many have moved to the cities. They share a high incidence of a range of health problems including cardiovascular disease, renal disease and infectious diseases largely attributed to a change to a more sedentary lifestyle. This paper reviews the haematology of indigenous Australians, including blood count, frequency and causes of anaemia, inherited risk factors for thrombophilia, blood groups and the incidence and types of haematological malignancies. There are some significant genetic differences between indigenous and non-indigenous Australians particularly in the frequency of blood groups, factor V Leiden and prothrombin mutations and presence of -alpha3.7 kb thalassaemia. These findings may have practical therapeutic implications (e.g. HPA phenotype for transfusion therapy and pregnancy risk) and in predicting disease risk. Other differences are acquired, related to lifestyle and living conditions (e.g. eosinophilia secondary to parasitic infections; iron and folate deficiencies), and are largely preventable.

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Blood Groups of some Australian Aborigines of the Western Desert

Cited by 3 publications

References 1 publication

Comprehensive blood group antigen profile predictions for Western Desert Indigenous Australians from whole exome sequence data

Comprehensive blood group antigen profile predictions for Western Desert Indigenous Australians from whole exome sequence data

The genomic landscape of blood groups in Indigenous Australians in remote communities

The Haematology of Indigenous Australians

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