Haemoglobin Babinga (δ 136 Glycine→Aspartic Acid): a New Delta Chain Variant

Jong, W.W.W. de; Bernini, L. F.

doi:10.1038/2191360a0

Cited by 43 publications

(5 citation statements)

References 14 publications

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“…The Hb A2‐Babinga was described in Babinga Pygmies (19) and was also found in a few Black families. Actually, the cases we have detected were from individuals who have Angola or Cape Verde ancestries.…”

Section: Discussionmentioning

confidence: 97%

Mutational spectrum of delta‐globin gene in the Portuguese population

Morgado

Picanço

Gomes

et al. 2007

European J of Haematology

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The phenotype of increased Hb A2 typical of beta-thalassaemia (beta-thal) carriers can be reduced to normal or borderline values because of the co-inheritance of a delta-globin gene (HBD, MIM #142000) mutation, which may lead to misinterpretation of diagnostic results. To know the spectrum of delta-globin mutations in the Portuguese population we performed a mutational analysis of the delta-globin gene in a group of 51 Portuguese beta-thal carriers presenting microcytosis, hypochromia and a normal/borderline Hb A2 level and in another group of 15 individuals suspected to have delta-globin structural abnormalities. The heterozygosity for the beta(+)IVS-I-6T-->C (HBB:c. 92+6T>C) mutation was the main cause for the mentioned atypical beta-thal carrier phenotype. Furthermore, eight individuals were double heterozygous for one common beta-thal mutation and the delta(+)Cd27G-->T mutation (Hb A2-Yialousa; HBD:c.82G>T). One of them also presented a novel delta-globin gene promoter mutation,-80G-->A (HBD:c.-130G>A), responsible for about 25% decrease of the promoter activity in transient expression assays. One the other hand, in the other group of 15 individuals suspected to have delta-globin structural abnormalities observed by biochemical methods, some known Hb A2 variants were identified - Hb A2' (HBD:c.49G>C), Hb A2-Babinga (HBD:c.410G>A), and Hb A2-Wrens (HBD:c.295G>A), and the novel Hb A2-Fogo [delta64(E8)(Gly-->Ser); (HBD:c.193G>A)]. This novel Hb A2 variant was observed segregating in linkage with Hb E (HBB:c.79G>A) in a three generation family. In conclusion, six different delta-globin mutations were found, being two of them new molecular defects. All delta-alleles identified were found linked to the expected beta-globin cluster haplotype. All mutations caused a low Hb A2 level and through this could lead to misdiagnosis when inherited together with a beta-thal allele.

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Section: Discussionmentioning

confidence: 97%

Mutational spectrum of delta‐globin gene in the Portuguese population

Morgado

Picanço

Gomes

et al. 2007

European J of Haematology

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“…Since in both of the families in the present report the electrophoretically slow moving minor component proved to be Hb NYU, it is clear that electrophoretic identification is insufficient for interpretation of the genetic significance of these slow components in different populations. Hemoglobin NYU is the fifth 8-chain variant resulting from a single amino acid substitution to be described (Table III) (15,16). We have found the structure of an electrophoretically similar component from a Negro subject to be a2a 8216 Arg, as reported by others for Hb A2' (13,14), and the structure of an example of the 8-variant, Hb Flatbush, obtained from members of the first family with this variant to be recognized (4), to be 5P glutamic acid for alanine as first described by Jones, Brimhall, and Huisman (14).…”

Section: Methodsmentioning

confidence: 99%

Hemoglobin NYU, a delta chain variant, α2δ212Lys

Ranney¹,

Jacobs²,

Ramot³

et al. 1969

J. Clin. Invest.

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A minor hemoglobin (Hb) component with the electrophoretic properties of the 8-chain variant Hb A2' was encountered in two unrelated families of Russian-Jewish ancestry. This minor component, designated Hb NYU, was shown to result from the substitution of lysine for asparagine at 8'. We have confirmed studies of others that hemoglobin A2' isolated from the hemoglobin of some African subjects, results from the replacement of the normal glycine at 8'6 by arginine. Thus for interpretations of the incidence of 8-chain variants in different populations, electrophoretic data are not sufficient.In members of one of the families in the present study, the visual estimations of normal Hb A2 and of Hb NYU on starch-gel electrophoretic patterns suggested the presence of 8-thalassemia. In hemolysates of one of the heterozygotes for Hb NYU, hemoglobin A2 was not demonstrable with starch-gel electrophoretic methods but was readily recovered by column chromatography in approximately the amounts expected for 8-chain heterozygotes.

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“…이 같은 명칭들은 돌연변이형의 실제 기원과 관련 없이 해당 다형성에 ‘정치적 국적’을 부여하는 동시에, 해당 국가의 과학자 공동체가 이런 돌연변이를 발견할 과학적 역량을 지녔음을 보여주는 표징으로 기능했다. 네덜란드 연구자에 의해 중앙아프리카공화국의 바가족에서 발견한 헤모글로빈 돌연변이형에 국가나 도시명이 아닌 해당 종족 집단의 멸칭인 바빙가 피그미족(Hb Barbinga)이 사용된 것은 과학 민족주의와 관련한 다형성 연구의 정치성을 잘 보여준다( de Jong and Bernini, 1968 ). 유사한 맥락에서 일본인 집단의 HLA 다형성만이 동아시아 집단으로 연구되는 상황은 한국의 연구자들에게 “한국인 집단”을 생물학적, 정치적으로 일본인 집단과 구별되는 대상으로서 국제 학계에 보고하는 일이 한국인 집단의 생물학적 실재성을 부여하는 일뿐만 아니라 한국의 HLA 연구 공동체의 학문적 역량을 보여주는 중요한 일로 부각되게 만들었다.…”

Section: Hla 다형성 연구의 ‘정치’와 한민족 이동설unclassified

Doctors Discussing “the Root of Koreans”: Medical Genetics and the Korean Origin, 1975-1987

Hyun¹

2019

Korean J Med Hist

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Anthropological genetics emerged as a new discipline to investigate the origin of human species in the second half of the twentieth century. Using the genetic database of blood groups and other protein polymorphisms, anthropological geneticists started redrawing the ancient migratory history of human populations. A peculiarity of the Korean experience is that clinical physicians were the first experts using genetic data to theorize the historical origin of the respective population. This paper examines how South Korean physicians produced the genetic knowledge and discourse of the Korean origin in the 1970s and 1980s. It argues that transnational scientific exchange led clinical researchers to engage in global anthropological studies. The paper focuses on two scientific cooperative cases in medical genetics at the time: the West German-South Korean pharmacogenetic research on the Korean population and the Asia-Oceania Histocompatibility Workshop. At the outset, physicians introduced medical genetics into their laboratory for clinical applications. Involved in cooperative projects on investigating anthropological implications of their clinical work, medical researchers came to use their genetic data for studying the Korean origin. In the process, physicians simply followed a nationalist narrative of the Korean origin rather than criticizing it. This was partially due to their lack of serious interest in anthropological work. Their explanations about the Korean origin would be considered “scientific” while hiding their embracing of the nationalist narrative.

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Haemoglobin Babinga (δ 136 Glycine→Aspartic Acid): a New Delta Chain Variant

Cited by 43 publications

References 14 publications

Mutational spectrum of delta‐globin gene in the Portuguese population

Mutational spectrum of delta‐globin gene in the Portuguese population

Hemoglobin NYU, a delta chain variant, α2δ212Lys

Doctors Discussing “the Root of Koreans”: Medical Genetics and the Korean Origin, 1975-1987

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