Diego antigen system

History

The first Diego antigen, Di^a, was discovered in 1953, when a child in Venezuela died of hemolytic disease three days after birth. Rh and ABO blood type mismatches were soon ruled out, and investigators began searching for a rare blood factor. Red blood cells from the father reacted strongly to blood serum from the mother. Rare blood types known at the time were eliminated, and the new type was classified as a "private" or "family" blood type. The investigators, with the agreement of the father, named the new type after his surname, "Diego". In 1955 investigators found that the Diego family included ancestry from Indigenous peoples of the Americas, and that the Diego factor (Di^a) was not restricted to the Diego family, but occurred in several populations in Venezuela and elsewhere in South America. Investigators suspected that the Diego factor might be a Mongoloid trait, and tested groups of Native Americans in the United States and people of Chinese and Japanese ancestry, and found Di^a in those groups. Anti-Di^b was found in 1967, establishing the Diego group as a two-antigen system. In 1993 the Diego pair of antigens was found to result from a single point mutation (nucleotide 2561) on what is now called the SLC4A1 gene on chromosome 17.

The Wright^a antigen (Wr^a), a very low frequency blood type, was also discovered in 1953. The Wright^b antigen (Wr^b), a very high frequency blood type, was discovered about a decade later, but the two types were not recognized as a pair for another 20 years. The Wright group was eventually identified as a single point mutation on the SLC4A1 gene. The Wright group was subsumed into the Diego group in 1995, since its location on the SLC4A1 gene had been determined after the Diego group had been located there.

Starting in 1995, various rare antigen types, some of which had been known for 30 years, were found to also be caused by mutations on the SLC4A1 gene, and were therefore added to the Diego system.

Distribution of the Diegoa antigen

The Di^b antigen has been found in all populations tested. The Di^a antigen, however, has been found only in populations of indigenous peoples of the Americas and East Asians, and people with some ancestry in those populations. Some groups in South America have a relatively high frequency of Di^a+. A sample of the Kaingang people of Brazil was 49% Di^a+. Samples of other groups in Brazil and Venezuela were 14% to 36% Di^a+.

While the Di^a antigen is found at moderate to high frequencies in most populations of indigenous peoples in South America, it is absent in the Waica people, and occurs at very low frequencies in the Warao and Yaruro people of interior northern South America. Layrisse and Wilbert, who characterize these people as "Marginal Indians", proposed that they are remnants of a first migration into South America of people who had not acquired the allele for the Di^a antigen, with other indigenous peoples of South America resulting from a later migration.

Samples of groups in Guatemala and Mexico have 20% to 22% Di^a+. Samples from Native American groups in the United States and First Nations groups in Canada have 4% to 11% Di^a+. Although the incidence of Diego^a+ is relatively high in Siberian Eskimos and Aleut people (the incidence of Diego^a+ in Aleuts is comparable to South American levels), it occurs at a much lower frequency (less than 0.5%) among Alaskan Eskimos and has not been found in the Inuit of Canada.

The Di^a antigen is widespread in East Asian populations. Samples of East Asian populations show 4% Di^a+ for the Ainu of Hokkaido, 2% to 10% Di^a+ for Japanese, 6% to 15% Di^a+ for Koreans, 7% to 13% Di^a+ for Mongolians, 10% Di^a+ for northern Chinese and 3% to 5% Di^a+ for southern Chinese.

The Di^a antigen is also found in northern India and in Malaysia, where there are populations of East Asian ancestry. North Indians (of unspecified ethnicity) are reported to be 4% Di^a+. On the other hand, a sample of Indian students attending the University of Michigan, the majority of which were Gujarati, found none to be Di^a+. A survey of residents of the Klang Valley in Malaysia found the incidence of Di^a+ in ethnic Chinese to be 4%, in ethnic Malays to be a little over 1%, and in ethnic Indians (descended from southern Indians) to be a little under 1%. (A smaller sample of Malays in Penang, Malaysia, were 4% Di^a+.)

The Di^a antigen is very rare in African and European populations. One West African subject had an ambiguous possible reaction to Di^a. About 0.5% of Europeans of Polish ancestry have been found to be Di^a+. This incidence has been attributed to gene mixture from Tatars who invaded Poland five to seven centuries ago. Diego Antigen has been found in 0.89% of Germans from Berlin. The Di^a antigen is very rare or absent in Aboriginal Australians, Papuans, natives of New Britain, and Polynesians.

The distribution of the Di^a antigen has been cited as proof that the Americas were populated by migrations from Siberia. Differences in the frequency of the antigen in populations of indigenous people in the Americas correlate with major language families, modified by environmental conditions. Another study suggests that the distribution of the Di^a antigen in central and eastern Asia has been shaped by the expansion of Mongolian and related populations that resulted in the creation of the Mongol Empire in the 13th- and 14th-centuries.

Clinical diagnostic

Clinical testing in patient care for Diego antigens follows published minimum quality and operational requirements, similar to red cell genotyping for any of the other recognized blood group systems. Molecular analysis can identify gene variants (alleles) that may affect Diego antigens expression on the red cell membrane.