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Journal ArticleDOI

Hemoglobin variants in India

01 Jan 1978-Acta geneticae medicae et gemellologiae (Cambridge University Press)-Vol. 27, Iss: 1, pp 11-29
TL;DR: The association of Hb E with beta thalassaemia G6PD deficiency has been established and the relationship with other environmental factors, like malaria, is not yet clear.
Abstract: The occurrence of different types of hemoglobin variants in India has been well-documented in urban populations and in certain tribal areas. Beta-thalassaemia and hemoglobins D, E, H, S, and rare variants like Hb Lepore, have been found in varying percentages. There is a higher incidence of Hb E in the Eastern region and of Hb D in certain Northern populations. The association of Hb E with beta thalassaemia G6PD deficiency has been established. The relationship with other environmental factors, like malaria, is not yet clear.
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Journal ArticleDOI
TL;DR: Hemglobin variants, thalassemia, hereditary persistence of fetal herroglobin and compound disorders reported from India are listed in tabular form by state and population.
Abstract: Hemglobin variants, thalassemia, hereditary persistence of fetal herroglobin and compound disorders reported from India are listed in tabular form by state and population.In India, the heimglobinopathies occur in the midst of a uniqe genetic heterogeneity. The population of nearly 700 millim is divided into thousands of highly endogamus groups, many of which are virtual genetic isolates. Consequently, results from a survey for hemoglobin abnormalities in one group may not be generalized to other populations. Furthermore, of the small fraction of these endogamus groups which have been studied, only a minority have been examined with a range of laboratory techniques which could identify abnormalities in both hemoglobin structure (variant hemoglobins) and production (thalassemia, hereditary persistence of fetal hemoglobin). In spite of these limitations, my Common hemoglobin abnormalities (hemoglobin [Hb] D, E and S; α- and β- thalassemia) haw been identified at appreciable frquencies in a variety of Indian ...

22 citations

Journal ArticleDOI
TL;DR: A database of hemoglobinopathy mutations for the population of Eastern India is created which will facilitate prenatal diagnosis and counseling and establish the origin of mutation.
Abstract: Analysis of the molecular basis of hemoglobinopathies provides an opportunity to define genotype-phenotype variations as well as establish the origin of mutation. The present study deals with a large cohort of 1,661 cases referred to the counseling unit and 889 individuals from random screening of the population of Tripura. Characterization of mutation in 291 cases (582 alleles) was performed by the PCR-ARMS method using genomic DNA. The haplotype of 56 beta(E) mutation-bearing chromosomes were identified by the RFLP-PCR method. Genotypes were constructed and correlated with hematological and clinical phenotypes. IVS-1nt 5 (G-->C) mutation was observed as the most frequent mutation, followed by codon 30 (G-->C). Production of HbE was significantly (P < 0.001) higher in nontransfusion-dependent Ebeta-thalassemia patients. beta(E) mutation was observed only on four haplotypes linked to framework 2. Type 2 haplotype was observed mainly from chromosomes of Tripura origin, but none from South Bengal. Homozygous E individuals with 1//1 genotype were significantly (P < 0.01) more anemic compared to individuals with 2//2 genotype. This work creates a database of hemoglobinopathy mutations for the population of Eastern India which will facilitate prenatal diagnosis and counseling. Am. J. Hum. Biol. 12:454-459, 2000. Copyright 2000 Wiley-Liss, Inc.

16 citations

Journal ArticleDOI
TL;DR: Clinical or phenotypic diversity of β-thalassaemia and other β- haemoglobinopathies suggest that it is determined by layer upon layer of complexity.
Abstract: In the present paper an attempt has been made to review the variations Clinical or phenotypic diversity of β-thalassaemia and other β- haemoglobinopathies suggest that it is determined by layer upon layer of complexity. A wide variety of primary mutations at the β-globin gene; two well-defined secondary modifying loci (δ and α gene) and several less well characterized tertiary modifiers interact with strong environmental component. STUDYOFHUMANBETAGLOBINGENE

13 citations

Journal ArticleDOI
TL;DR: Genetic distance analysis revealed a cluster pattern, which reflects to a great extent the ethnohistoric relations among the populations under study, and shows a considerable interpopulational variability.
Abstract: 13 population groups of Sikkim (North India) ? Lepchas (2), Bhutias (2), Sherpas, Ta mangs, Gurungs, Rais, Limboos (Subbas), Pradhans (Newars), Brahmins, Chhetris, Scheduled Castes ? were analyzed for the distribution of 17 polymorphic systems of the blood: A1A2B0, MNSs, Rhesus (C, c, D, E, e), Kell, Duffy, Kidd, haptoglobin, transferrin subtypes, Gc subtypes, Gm (1, 2, 5), Km (1), red cell acid phosphatase (aP), phosphoglucomutase (PGMt), 6-phosphogluconate dehydrogenase (6-PGD), esterase D (EsD), adenylate kinase (AK), and hemoglobin variants. In ad dition to this two samples ? Lepchas and Bhutias of North Sikkim ? could also be typed for Lu theran und Xg blood groups and for ABH secretion in saliva. The distribution of phenotype and al lele frequencies shows a considerable interpopulational variability, which is discussed considering history and marriage relations of these populations. The average coefficient of gene diversity GST comes to 0.0351, whereas Wright's Fst is 0.0257. These values are somewhat different from those obtained on other Indian populations. Genetic distance analysis revealed a cluster pattern, which reflects to a great extent the ethnohistoric relations among the populations under study.

11 citations

References
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Journal ArticleDOI
06 Feb 1954-BMJ
TL;DR: In view of the regional differences in sensitivity found in the earlier experiments one would expect that the units responding, for exampk, to acetone would be found more often in the front part of the bulb and those responding to heavy oil at the back, but there is undoubtedly a segregation of this kind.
Abstract: In view of the regional differences in sensitivity found in the earlier experiments one would expect that the units responding, for exampk, to acetone would be found more often in the front part of the bulb and those responding to heavy oil at the back. There is undoubtedly a segregation of this kind, although, in the middle region, unit discharges have been obtained with substances from all the groups. It is true that most of these units can be made to discharge to a wide range of stimuli if the concentration is raised, but there will always be outlying parts of the olfactory organ where it has the threshold value needed to bring out the differential effects.

1,131 citations

Journal Article

435 citations

Journal ArticleDOI
23 Feb 1952-BMJ
TL;DR: Whether there were migrations to prehistoric Africa from other continents, possibly Asia, is speculated, supported by the observation that the tall, broadshouldered skeleton of the modern Bantu appears only in Neolithic excavations, whereas the types found in older strata are more slender.
Abstract: When the traveller in East and Central Africa inquires from the inhabitants about their distant past, they will often tell him of tall men, fairer than themselves, bearded and with long hair, who came from afar bringing codes of law, handicrafts, and cattle. Several leading anthropologists have speculated whether there were migrations to prehistoric Africa from other continents, possibly Asia. Such speculations have been supported by the observation that the tall, broadshouldered skeleton of the modern Bantu appears only in Neolithic excavations, whereas the types found in older strata are more slender. It had been noted that, with the exception of the Ankole herds, which are related to those of ancient Egypt, the East African cattle show

162 citations

Journal ArticleDOI
TL;DR: The genetic load as disclosed by inbreeding is computed for perinatal mortality, major malformations and pooling these together and A+B, the measure of the number of lethal equivalents per gamete, is found to be at variance with other reports.
Abstract: It has been reported that studies of the genetic consequences of inbreeding should adopt a different strategy in populations having a relatively old inbreeding history and where inbreeding levels have varied over time. This contention is tested with a series of 39,495 single-birth records from Bombay, India, collected in a World Health Organization survey on congenital malformations. Our analysis reveals that: 1. the incidence of major malformations is significantly higher among the inbred offspring (1.34%) as compared to that among non-inbred ones (0,81%)--a finding at variance with a previous study in the same area; 2. the inbreeding effect on perinatal mortality (stillbirths and mortality during the first few days of life) is also found to be significant. In view of the above findings, the genetic load as disclosed by inbreeding is computed for perinatal mortality, major malformations and pooling these together. A + B, the measure of the number of lethal equivalents per gamete, is found to be at variance with other reports. Such variability can be ascribed to non-genetic factors. Supporting evidence collected from Brazil and Malaysia in the same survey is also presented.

85 citations