Hemoglobinopathies in India

Brittenham, Gary M.

doi:10.3109/03630268108991845

Cited by 11 publications

(1 citation statement)

References 74 publications

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“…Some populations of northern Thailand and northeast India have a HbE frequency of almost 0.5 Das andDeka, 1985iDeka et al, 1987). The Assamese have a Hb frequency of about 0.1; the Bod0 group, Tibeto-Burman speaking populations, have frequencies of HbE ranging from 0.3 to 0.6 (Brittenham, 1981). The Naga-Kuki-Chin group of northeast India and Burma have a much lower frequency of Hb", whereas the Khasi, a Mon-Khmer Austroasiatic group, has a frequency of HbE of (Deka et al, 1987).…”

Section: Haemoglobin and Ggpdmentioning

confidence: 99%

Genetic studies among the Nagas and Hmars of eastern India

Saha

Tay

1990

American J Phys Anthropol

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A total of 148 Nagas (65 urban and 83 rural) and 81 Hmars from northeastern India were tested for 15 blood genetic markers. Both the Nagas and Hmars lacked haemoglobin variants and G6PD deficiency and had a high frequency of PGDC. This may be attributed to selective pressures operating at these loci. Genetic distance estimates using 41 alleles at 11 polymorphic loci showed appreciable heterogeneity between the urban and rural Nagas that were in line with the differences in gene frequencies. Considerable genetic admixture of the urban Nagas from the Hmar and other neighbouring populations is evident. The Nagas were found to be quite distant from the mainland Han Chinese and Malays as well as from the Bengalis and Oraons. However, they appear to be related to the Hmar and Lepcha. Evidence supporting the ethnohistoric origin of the Nagas from China or the South Seas is lacking.

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Section: Haemoglobin and Ggpdmentioning

confidence: 99%

Genetic studies among the Nagas and Hmars of eastern India

Saha

Tay

1990

American J Phys Anthropol

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Alpha chain and gamma chain abnormal hemoglobins in newborn babies: Structural and genetic aspects

et al. 1983

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Structural studies and quantitative analyses were conducted on the hemoglobin of 55 newborn babies. Seven alpha chain variants (G-Philadelphia, Montgomery, Inkster, I-Philadelphia, Matsue-Oki, Winnipeg, and O-Indonesia) were present in 26 heterozygous newborns (17 black, eight Caucasian, and one Indonesian). The relative amount of the alpha X containing abnormal Hb F of the Hb G-Philadelphia and Hb Winnipeg babies was less than observed in heterozygous adults, which may indicate a decreased rate of assembly of the alpha X-gamma dimer over that of the alpha X-beta dimer. Of the 29 newborns with gamma chain variants, 16 were Caucasian babies; of these 15 had a Hb A gamma F-Hull heterozygosity and one a Hb G gamma F-Marietta heterozygosity. Six black babies were heterozygous for Hb A gamma F-Texas-I and six for Hb G gamma F-Port Royal. One Japanese baby had a heterozygosity for A gamma F-Iwata and a second was heterozygous for A gamma TF-Yamaguchi. Quantitative analyses of the isolated normal Hb Fo as well as an evaluation of the relative amounts of the Hb Fx in the red cell lysates gave data useful for a speculation of the genetic condition in each of these babies. It was concluded that the babies with the Hbs F-Texas-I, F-Iwata, F-Hull, and F-Marietta were simple heterozygotes with either the G gamma x A gamma/G gamma x A gamma X or the G gamma x A gamma/G gamma X x A gamma genic arrangement. The babies with Hb F-Port Royal had a G gamma x G gamma X/G gamma x A gamma arrangement, which may result from a (to be determined) gene conversion. The newborn baby with Hb F-Yamaguchi has the G gamma x A gamma x/A gamma T-X.-. genic arrangement, suggesting the presence of three distinctly different gamma chain genes of which one, the A gamma T-X gene, produces an A gamma chain (with threonyl at position gamma 75 and an Asn at position gamma 80) at a level usually seen for G gamma rather than A gamma chains. These studies were greatly facilitated by the use of high pressure liquid chromatographic methods.

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Hemoglobin constant spring defined by specific oligonucleotide hybridization and hemoglobin D Punjab (β¹²¹→^Gln) in a Batak Indonesian family

et al. 1988

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A Batak Indonesian from North Sumatra with hemoglobin (Hb) D Punjab (alpha 2 beta 2 121----Gln) and hemoglobin Constant Spring (Hb CoSp) is described. The 24-year-old man did not have clinical symptoms, and his hematological indices were normal. However, he had a persistent slight elevation of fetal hemoglobin level. His mother and his brother were heterozygous for Hb D Punjab; his father had Hb CoSp trait. A sister did not have any abnormal hemoglobin. To show the exact molecular defect leading to the synthesis of Hb CoSp in this family, genomic DNA from the father was analyzed by hybridization with synthetic oligonucleotides. Genomic DNA was digested with Sst I and Hind III producing a 1.05-kb fragment from the 3' end segment of the alpha 2-globin gene, including the termination codon. Two nonadecamers were synthesized to serve as probes: one, entirely homologous to the normal 3' end of alpha 2A-globin gene sequence, including the termination codon TAA, the other different from it by a replacement of the T in the termination codon TAA with C, changing it to CAA, the codon for the amino acid glutamine. DNA from normal controls gave a positive signal with the normal alpha 2TAA oligonucleotide probe but negative with the alpha 2 CAA probe. The father of propositus who had Hb CoSp trait gave a positive signal with the normal alpha 2TAA oligonucleotide probe as well as with the alpha 2CAA oligonucleotide probe, showing him to be heterozygous for the alpha 2CAA-globin gene. This result shows that the Hb CoSp in the Batak family is indeed due to a replacement of T by C in the TAA termination codon of the alpha 2-globin gene changing it to CAA the condon for glutamine. This explains the resulting readthrough of the untranslated sequence of the mRNA.

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Hemoglobinopathies in India

Cited by 11 publications

References 74 publications

Genetic studies among the Nagas and Hmars of eastern India

Genetic studies among the Nagas and Hmars of eastern India

Alpha chain and gamma chain abnormal hemoglobins in newborn babies: Structural and genetic aspects

Hemoglobin constant spring defined by specific oligonucleotide hybridization and hemoglobin D Punjab (β¹²¹→^Gln) in a Batak Indonesian family

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Hemoglobinopathies in India

Cited by 11 publications

References 74 publications

Genetic studies among the Nagas and Hmars of eastern India

Genetic studies among the Nagas and Hmars of eastern India

Alpha chain and gamma chain abnormal hemoglobins in newborn babies: Structural and genetic aspects

Hemoglobin constant spring defined by specific oligonucleotide hybridization and hemoglobin D Punjab (β121→Gln) in a Batak Indonesian family

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Product

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Hemoglobin constant spring defined by specific oligonucleotide hybridization and hemoglobin D Punjab (β¹²¹→^Gln) in a Batak Indonesian family