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1.
J Community Genet ; 11(1): 39-45, 2020 Jan.
Article in English | MEDLINE | ID: mdl-30756298

ABSTRACT

The Government of India is presently engaged in the implementation of a prevention and control programme for two major forms of haemoglobinopathies, thalassaemia major and sickle cell disease, with guidelines for their prevention and management formulated under the National Health Mission. Based on projections for the population up to the year 2026, the annual blood requirement for treatment will increase to 9.24 million units, together with an 86% increase in budgetary requirements which then would account for over 19% of the current National Health Budget. To avert a public health crisis there is an urgent need to fully implement the prevention programme for haemoglobinopathies.

2.
J Biosoc Sci ; 52(5): 746-755, 2020 09.
Article in English | MEDLINE | ID: mdl-31806075

ABSTRACT

To an extent the question posed in the title of this paper can simply be answered in the affirmative. Based on the extensive data available from the National Family Health Survey-1 (NFHS-1) conducted in 1992-93 and NFHS-4 in 2015-16 there has been a significant overall decline of some 19% in the prevalence of consanguineous marriage in India. However, when examined at state level the picture is more complex, with large reductions in consanguinity in southern states where intra-familial marriage previously has been strongly favoured, whereas in some northern states in which close kin unions traditionally have been proscribed small increases were recorded. In a country such as India, comprising an estimated 18% of the current world population and with multiple ethnic, religious, geographical and social sub-divisions, apparently contrary findings of this nature are not unexpected - especially given the major shifts that are underway in family sizes, in education and employment, and with rapid urbanization. The changing health profile of the population also is an important factor, with non-communicable diseases now responsible for a majority of morbidity and premature mortality in adulthood. The degree to which future alterations in the prevalence and profile of consanguineous marriage occur, and at what rate, is difficult to predict - the more so given the markedly diverse cultural identities that remain extant across the Sub-Continent, and ongoing intra-community endogamy.


Subject(s)
Consanguinity , Marriage , Adult , Educational Status , Employment , Ethnicity , Family Characteristics , Female , Humans , India , Male , Prevalence
3.
J Biosoc Sci ; 51(3): 418-435, 2019 05.
Article in English | MEDLINE | ID: mdl-30289091

ABSTRACT

The effects of marriage between biological relatives on the incidence of childhood genetic illness and mortality are of major policy significance, as rates of consanguinity exceed 50% in various countries. Empirical research on this question is complicated by the fact that consanguinity is often correlated with poverty and other unobserved characteristics of households, which may have independent effects on mortality. This study has developed an instrumental variables empirical strategy to re-examine this question, based on the concept that the availability of unmarried cousins of the opposite gender at the time of marriage creates quasi-random variation in the propensity to marry consanguineously. Using primary data collected in Bangladesh in 2006-07 and Pakistan in 2009-10, the study found that previous estimates of the impact of consanguinity on child health were biased and falsely precise. The study also empirically investigated the social and economic causes of consanguinity (including marital quality) and concludes that marrying a cousin can have positive economic effects for one's natal family, by allowing deferral of dowry payments until after marriage.


Subject(s)
Consanguinity , Health Status , Socioeconomic Factors , Bangladesh , Child , Child Health/statistics & numerical data , Correlation of Data , Female , Genetic Diseases, Inborn/epidemiology , Genetic Diseases, Inborn/mortality , Humans , Male , Marriage , Pakistan , Survival Rate
4.
Blood Cells Mol Dis ; 68: 232-238, 2018 02.
Article in English | MEDLINE | ID: mdl-28190666

ABSTRACT

Orphan drug clinical trials often are adversely affected by a lack of high quality treatment efficacy data that can be reliably compared across large patient cohorts derived from multiple governmental and country jurisdictions. It is critical that these patient data be captured with limited corporate involvement. For some time, there have been calls to develop collaborative, non-proprietary, patient-centric registries for post-market surveillance of aspects related to orphan drug efficacy. There is an urgent need for the development and sustainable deployment of these 'independent' registries that can capture comprehensive clinical, genetic and therapeutic information on patients with rare diseases. We therefore extended an open-source registry platform, the Rare Disease Registry Framework (RDRF) to establish an Independent Rare Disease Registry (IRDR). We engaged with an established rare disease community for Gaucher disease to determine system requirements, methods of data capture, consent, and reporting. A non-proprietary IRDR model is presented that can serve as autonomous data repository, but more importantly ensures that the relevant data can be made available to appropriate stakeholders in a secure, timely and efficient manner to improve clinical decision-making and the lives of those with a rare disease.


Subject(s)
Gaucher Disease/epidemiology , Rare Diseases/epidemiology , Registries , Humans , Internet , Search Engine , Software
5.
Intern Med J ; 47(9): 1075-1079, 2017 Sep.
Article in English | MEDLINE | ID: mdl-28891182

ABSTRACT

When registries collect accurate clinical data over time, they can act as fundamental support structures for patients and their families and powerful cost-effective instruments to support clinical trials and translational research to improve quality of care, quality of life and survival. Registries are critical for rare diseases (RD) with low prevalence and propensity for variation in treatment and outcomes. Rare Voices Australia is leading a call for action to the research and clinical community to prioritise RD data collection and develop an integrated RD Registry strategy for Australia. Financial, operational and governance challenges exist for establishing and maintaining RD registries. As a multidisciplinary team whose interests converge on RD, we highlight the need for the establishment of an Australian RD Registry Alliance. This 'umbrella' organisation will: (i) bring together existing RD registries across Australia; (ii) establish National RD Registry Standards to support interoperability and cohesion across registries; (iii) develop strategies to attract sustainable funding from government and other sources to maximise the utility of existing RD registries and support the development of new RD registries. The most important role for the Alliance would be to use the RD registries for translational research to address current knowledge gaps about RD and to improve the care for the over 1.4 million Australians estimated to live with RD.


Subject(s)
Data Collection/methods , Rare Diseases/epidemiology , Registries , Translational Research, Biomedical/methods , Australia/epidemiology , Humans , Rare Diseases/diagnosis , Rare Diseases/therapy
6.
BMJ Paediatr Open ; 1(1): e000171, 2017.
Article in English | MEDLINE | ID: mdl-29637167

ABSTRACT

BACKGROUND: Congenital anomalies (CAs) are a common cause of infant death and disability. We linked children from a large birth cohort to a routine primary care database to detect CA diagnoses from birth to age 5 years. There could be evidence of underreporting by CA registries as they estimate that only 2% of CA registrations occur after age 1 year. METHODS: CA cases were identified by linking children from a prospective birth cohort to primary care records. CAs were classified according to the European Surveillance of CA guidelines. We calculated rates of CAs by using a bodily system group for children aged 0 to <5 years, together with risk ratios (RRs) with 95% CIs for maternal risk factors. RESULTS: Routinely collected primary care data increased the ascertainment of children with CAs from 432.9 per 10 000 live births under 1 year to 620.6 per 10 000 live births under 5 years. Consanguinity was a risk factor for Pakistani mothers (multivariable RR 1.87, 95% CI 1.46 to 2.83), and maternal age >34 years was a risk factor for mothers of other ethnicities (multivariable RR 2.19, 95% CI 1.36 to 3.54). Education was associated with a lower risk (multivariable RR 0.78, 95% CI 0.62 to 0.98). CONCLUSION: 98% of UK CA registrations relate to diagnoses made in the first year of life. Our data suggest that this leads to incomplete case ascertainment with a further 30% identified after age 1 year in our study. Risk factors for CAs identified up to age 1 year persist up to 5 years. National registries should consider using routine data linkage to provide more complete case ascertainment after infancy.

7.
J Biosoc Sci ; 49(4): 435-446, 2017 Jul.
Article in English | MEDLINE | ID: mdl-27573732

ABSTRACT

The biraderi (brotherhood) is a long-established, widely prevalent dimension of social stratification in Pakistani communities worldwide. Alongside consanguinity, it offers a route for cementing social solidarities and so has strong socio-biological significance. A detailed breakdown of biraderi affiliation among participants in an ongoing birth cohort study in the northern English city of Bradford is presented. There is historical resilience of intra-biraderi marriage, but with a secular decline in prevalence across all biraderi and considerable reductions in some. While a majority of marriages in all biraderi are consanguineous the prevalence varies, ranging from over 80% to under 60%. In consanguineous unions, first cousin marriages account for more than 50% in five of the fifteen biraderi and >40% in six others. Within-biraderi marriage and consanguinity enhance genetic stratification, thereby increasing rates of genomic homozygosity and the increased expression of recessive genetic disorders. The trends reported constitute putative signals of generational change in the marital choices in this community.


Subject(s)
Consanguinity , Developing Countries , Family , Genetic Diseases, Inborn/epidemiology , Marriage , Residence Characteristics , Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Cohort Studies , Cross-Sectional Studies , Female , Genes, Recessive , Genetic Diseases, Inborn/genetics , Homozygote , Humans , Infant , Infant, Newborn , Male , Middle Aged , Pakistan , Pregnancy , Young Adult
9.
J Biosoc Sci ; 48(3): 427-9, 2016 05.
Article in English | MEDLINE | ID: mdl-26075592
12.
Hum Hered ; 77(1-4): 16-25, 2014.
Article in English | MEDLINE | ID: mdl-25060266

ABSTRACT

OBJECTIVES: The aims of the study were to determine the prevalence, types and socio-economic correlates of consanguineous marriages in Iran, and to gauge the extent to which consanguinity influenced fertility, pregnancy outcomes and the expression of genetic disorders in the present-day population. METHODS: Data on the prevalence of consanguinity and birth outcomes in the first marriages of 5,515 women were abstracted from the 2005 Iran Low Fertility Study [Hosseini-Chavoshi et al: Fertility and Contraceptive Use Dynamics in Iran: Special Focus on Low Fertility Regions. Canberra, Australian National University, 2007]. The results of associated socio-economic variables were collated and assessed by Pearson's χ(2) analysis and logistic regression. RESULTS: Overall, 37.4% of the marriages were consanguineous (α = 0.0149), but with major differences between 4 representative populations. Consanguinity was higher among rural couples, older marriage cohorts, women marrying at a younger age, and women with lower levels of formal education. In general, consanguineous couples had higher mean numbers of pregnancies, live births and surviving children. CONCLUSIONS: Given declining family sizes, a rapid urbanization and increased educational and employment opportunities, it seems inevitable that consanguineous marriages will decline in prevalence in Iran, albeit more slowly in more traditional rural communities. Predictably, there will be a concomitant reduction in the incidence of recessive genetic disorders, but this is against a background transition from communicable to non-communicable diseases.


Subject(s)
Abortion, Spontaneous/epidemiology , Consanguinity , Genetic Diseases, Inborn/epidemiology , Infant Mortality , Marriage/statistics & numerical data , Maternal Age , Abortion, Induced/legislation & jurisprudence , Demography , Female , Fertility/genetics , Humans , Infant , Iran/epidemiology , Pregnancy
13.
Lancet ; 382(9901): 1316-7, 2013 Oct 19.
Article in English | MEDLINE | ID: mdl-23830356
14.
Int J Pediatr Otorhinolaryngol ; 77(7): 1077-82, 2013 Jul.
Article in English | MEDLINE | ID: mdl-23684175

ABSTRACT

OBJECTIVE: There are many hearing impaired individuals in Monte Santo, a rural municipality in the state of Bahia, Brazil, including multiple familial cases strongly suggestive of a genetic aetiology. METHODS: The present study investigated 81 subjects with hearing impairment (HI) recruited from 36 families. Mutations often associated with HI, i.e. the DFNB1 mutations c.35delG in GJB2, deletions del(GJB6-D13S1830) and del(GJB6-D13S1854), and A1555G in the mitochondrial gene MTRNR1 were initially analyzed, with additional mutations in GJB2 identified by sequencing the coding region of the gene. RESULTS: Seven different mutations were present in GJB2 with mutations c.35delG and p.Arg75Gln, which are known to be pathogenic, identified in 37.0% of the subjects. Individuals homozygous for the c.35delG mutation were diagnosed in eight families, corresponding to 24.7% of unrelated individuals with nonsyndromic hearing impairment (NSHI), and an additional heterozygote for this mutation was present in a single family. Ten individuals (12.4%) in another family were heterozygous for the mutation p.Arg75Gln. CONCLUSIONS: Significant heterogeneity was observed in the alleles and patterns of NSHI inheritance among the subjects studied, probably due to the extensive inter-ethnic admixture that characterizes the peoples of Brazil, together with a high prevalence of community endogamy and consanguineous marriage.


Subject(s)
Connexins/genetics , Ethnicity/genetics , Hearing Loss/ethnology , Hearing Loss/genetics , Mutation , Rural Population/statistics & numerical data , Adolescent , Adult , Aged , Brazil/epidemiology , Child , Child, Preschool , Connexin 26 , Connexin 30 , Consanguinity , Female , Humans , Male , Middle Aged , Orphan Nuclear Receptors/genetics , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Young Adult
15.
PLoS One ; 7(7): e39726, 2012.
Article in English | MEDLINE | ID: mdl-22802942

ABSTRACT

Advancing age is associated with cardiovascular disease, diabetes mellitus and cancer, and shows significant inter-individual variability. To identify ageing-related biomarkers we performed a proteomic analysis on 1890 Chinese Han individuals, 1136 males and 754 females, aged 18 to 82 years, using weak cation exchange magnetic bead based MALDI-TOF-MS analysis. The study identified 44 peptides which varied in concentration in different age groups. In particular, apolipoprotein A-I (ApoA1) concentration gradually increased between 18 to 50 years of age, the levels of fibrinogen alpha (FGA) decreased over the same age span, while albumin (ALB) was significantly degraded in middle-aged individuals. In addition, the plasma peptide profiles of FGA and four other unidentified proteins were found to be gender-dependent. Plasma proteins such as FGA, ALB and ApoA1 are significantly correlated with age in the Chinese Han population and could be employed as indicative ageing-related biomarkers.


Subject(s)
Aging/blood , Biomarkers/blood , Fibrinogen/analysis , Peptides/blood , Adolescent , Adult , Aged , Aged, 80 and over , Apolipoprotein A-I/blood , Female , Humans , Male , Middle Aged , Serum Albumin/metabolism , Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization , Transcriptome
16.
Am J Med Genet A ; 158A(5): 1236-41, 2012 May.
Article in English | MEDLINE | ID: mdl-22488956

ABSTRACT

Consanguineous unions have been associated with an increased susceptibility to various forms of inherited disease. Although consanguinity is known to contribute to recessive diseases, the potential role of consanguinity in certain common birth defects is less clear, particularly since the disease pathophysiology may involve genetic and environmental/epigenetic factors. In this study, we ask whether consanguinity affects one of the most common birth defects, congenital heart disease, and identify areas for further research into these birth defects, since consanguinity may now impact health on a near-global basis. A systematic review of consanguinity in congenital heart disease was performed, focusing on non-syndromic disease, with the methodologies and results from studies of different ethnic populations compared. The risks for congenital heart disease have been assessed and summarized collectively and by individual lesion. The majority of studies support the view that consanguinity increases the prevalence of congenital heart disease, however, the study designs differed dramatically. Only a few (n = 3) population-based studies that controlled for potential sociodemographic confounding were identified, and data on individual cardiac lesions were limited by case numbers. Overall the results suggest that the risk for congenital heart disease is increased in consanguineous unions in the studied populations, principally at first-cousin level and closer, a factor that should be considered in empiric risk estimates in genetic counseling. However, for more precise risk estimates a better understanding of the underlying disease factors is needed.


Subject(s)
Consanguinity , Data Interpretation, Statistical , Heart Defects, Congenital/etiology , Ethnicity , Genetic Counseling , Heart Defects, Congenital/ethnology , Humans , Risk
17.
Ann Pediatr Cardiol ; 4(2): 111-6, 2011 Jul.
Article in English | MEDLINE | ID: mdl-21976867

ABSTRACT

Numerous articles have been published linking consanguineous marriage to an elevated prevalence of congenital heart disease, with ventricular septal defects and atrial septal defects the most commonly cited disorders. While initially persuasive, on closer examination many of these studies have fundamental shortcomings in their design and in the recruitment of study subjects and controls. Improved matching of cases and controls, to include recognition of the long-established community boundaries within which most marriages are contracted, and the assessment of consanguinity within specific levels and types of marital union would improve and help to focus the study outcomes. At the same time, major discrepancies between studies in their reported prevalence and types of congenital heart disease suggest an urgent need for greater standardization in the classification and reporting of these disorders.

18.
Genet Med ; 13(9): 841-7, 2011 Sep.
Article in English | MEDLINE | ID: mdl-21555946

ABSTRACT

Approximately 1.1 billion people currently live in countries where consanguineous marriages are customary, and among them one in every three marriages is between cousins. Opinions diverge between those warning of the possible health risks to offspring and others who highlight the social benefits of consanguineous marriages. A consanguinity study group of international experts and counselors met at the Geneva International Consanguinity Workshop from May 3, 2010, to May 7, 2010, to discuss the known and presumptive risks and benefits of close kin marriages and to identify important future areas for research on consanguinity. The group highlighted the importance of evidence-based counseling recommendations for consanguineous marriages and of undertaking both genomic and social research in defining the various influences and outcomes of consanguinity. Technological advances in rapid high-throughput genome sequencing and for the identification of copy number variants by comparative genomic hybridization offer a significant opportunity to identify genotype-phenotype correlations focusing on autozygosity, the hallmark of consanguinity. The ongoing strong preferential culture of close kin marriages in many societies, and among migrant communities in Western countries, merits an equivalently detailed assessment of the social and genetic benefits of consanguinity in future studies.


Subject(s)
Consanguinity , DNA Copy Number Variations , Disease/genetics , Female , Genetic Research , Humans , Male , Marriage , Quantitative Trait, Heritable
19.
Hum Mutat ; 32(8): 887-93, 2011 Aug.
Article in English | MEDLINE | ID: mdl-21520336

ABSTRACT

Web-based informatics resources for genetic disorders have evolved from genome-wide databases like OMIM and HGMD to Locus Specific databases (LSDBs) and National and Ethnic Mutation Databases (NEMDBs). However, with the increasing amenability of genetic disorders to diagnosis and better management, many previously underreported conditions are emerging as disorders of public health significance. In turn, the greater emphasis on noncommunicable disorders has generated a demand for comprehensive and relevant disease-based information from end-users, including clinicians, patients, genetic epidemiologists, health administrators and policymakers. To accommodate these demands, country-specific and disease-centric resources are required to complement the existing LSDBs and NEMDBs. Currently available preconfigured Web-based software applications can be customized for this purpose. The present article describes the formulation and construction of a Web-based informatics resource for ß-thalassemia and other hemoglobinopathies, initially for use in India, a multiethnic, multireligious country with a population approaching 1,200 million. The resource ThalInd (http://ccg.murdoch.edu.au/thalind) has been created using the LOVD system, an open source platform-independent database system. The system has been customized to incorporate and accommodate data pertinent to molecular genetics, population genetics, genotype-phenotype correlations, disease burden, and infrastructural assessment. Importantly, the resource also has been aligned with the administrative health system and demographic resources of the country.


Subject(s)
Databases, Factual , Hemoglobinopathies/genetics , beta-Thalassemia/genetics , Computational Biology , Genetic Association Studies , Health Resources , Humans , India , Internet , Software
20.
Fertil Steril ; 95(6): 2018-23, 2023.e1-3, 2011 May.
Article in English | MEDLINE | ID: mdl-21444069

ABSTRACT

OBJECTIVE: To examine the determinants of semen quality in a large sample of military personnel from different geographical areas of the People's Republic of China. DESIGN: Cross-sectional study. SETTING: Six representative geographical regions in China: Beihai, Lhasa, Germu, Xinzhou, Huhehaote, and Mohe. PATIENT(S): 1,194 army personnel aged 18 to 35 years at the time of their inclusion in the study, sampled between 2007 and 2009. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Semen volume (in milliliters), sperm concentration (in millions per milliliter), percentage of motile spermatozoa, total sperm count (in millions), and relative risk of subfertility. RESULT(S): The median values were 3.0 mL for semen volume, 39.4×10(6) per mL for sperm concentration, 120.1×10(6) for total sperm count, 15.8% for sperm rapid progressive motility, 30.1% for sperm progressive motility, and 43.9% for total motility. We found that 88.3% of the servicemen had at least one semen parameter below normal values according to World Health Organization (WHO) recommendations (1999), and 62.5% according to WHO recommendations (2010). Season, average altitude, and duration of sexual abstinence all were statistically significantly associated with semen quality. CONCLUSION(S): The men had markedly lower mean sperm concentrations, sperm counts, and sperm motility compared with WHO recommendations. Possible contributory factors included diet, lifestyle, climate, and altitude.


Subject(s)
Military Personnel , Semen Analysis , Adolescent , Adult , Altitude , China/epidemiology , Climate , Cross-Sectional Studies , Geography , Humans , Infertility, Male/diagnosis , Infertility, Male/epidemiology , Life Style , Male , Military Personnel/statistics & numerical data , Seasons , Semen Analysis/methods , Semen Analysis/statistics & numerical data , Sexual Abstinence/physiology , Sexual Abstinence/statistics & numerical data , Young Adult
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