Inherited hemolytic disorders with high occurrence of b-thalassemia in Sindhi community of Jabalpur town in Madhya Pradesh, India

Hereditary hemolytic disorders such as hemoglobin disorders, β-thalassemia syndrome, G6PD deficiency, and ABO and Rhesus blood groups are the most common public health problems in India. Community genetic screening provides multifaceted information for finding prevalence, level of health education, preventive strategies such as genetic/marriage counseling to relieve the burden of vulnerable communities. However, such genetic screening studies are scanty in India. This study aims to find the prevalence of inherited hemolytic disorders in Sindhi community, identify the persons for genetic/marriage counseling and to suggest the relevant strategies for prevention and control to the affected families. A cross-sectional random study of 508 persons of Sindhi community belonging to all ages and both sexes was conducted for screening of hemoglobin disorders, G6PD deficiency and ABO and Rhesus (D) blood groups following the standard procedures and techniques from Jabalpur town in Central India. High frequency of β-thalassemia trait (20.5%), Hb D trait (2.2%) and hemoglobin D/β-thalassemia (0.2%), G6PD deficiency (0.8%), and a low prevalence of Rhesus negative (3.0%) blood group was observed in Sindhi community of Jabalpur town in Madhya Pradesh. A case of β-thalassemia major and Hb D-thalassemia were also encountered. Double heterozygosity of Hb D/β-thalassemia showed hypochromic and microcytic red cell morphology with mild anemia. Inherited hemolytic disorders are an important public health challenge in Sindhi community. Preventive genetics program needs to be vigorously taken up to ameliorate the sufferings of at risk communities in India

Health Informatics, Sustainable Health Care Development and Malnutrition in India

Health informatics aims at studying the principal computer applications related to technology in developing human health care and solving the existing problems to facilitate efficient management. It helps in decision making process, hospital administration and system management and in catering the needs of clients/patients and doctors. However, the inadequacy of skilled manpower, resources and economy are the major hurdles to exploit the full potential of the technology and medical health facilities. Malnutrition and related causes are adversely affecting the nation from several angles. An integral approach would be able to mitigate the human sufferings

Genetic Disease Burden, Nutrition and Determinants of Tribal Health Care in Chhattisgarh State of Central-East India: A Status Paper

Tribal health is an important aspect of development and progress of the people. This study pertaining to genetic disease burden, nutritional status and biomedical anthropological assessment with particular reference to determinants of tribal health care has been carried out among the four tribes, namely, Bhatra, Gond, Kondh and Paraja of Orissa residing adjacent to the bordering districts of Chhattisgarh The population genetic structure of a tribe is the outcome of socio-cultural practices, bio-psychological behavior, genetic constitution, and eco-environmental conditions. Tribal communities in India, in general and of Chhattisgarh state in particular, are highly vulnerable to various genetic diseases, nutritional deficiencies and unrealistic practices and lack of access to basic health facilities. A total of 815 blood samples comprising of 166 Bhatra, 219 Gond, 254 Kondh and 176 Paraja tribes were collected randomly under aseptic conditions. The frequency of sickle cell hemoglobinopathy (3.2-22.5%), β-thalassemia trait (0.5-8.5%), and G6PD enzyme deficiency (6-16%) is very high among the tribes of Chhattisgarh. However, the prevalence of Rhesus negative blood group is very low (0-0.6%). The frequency of hereditary hemolytic anemia is also high among the tribals of Chhattisgarh. Both communicable and non-communicable diseases harbor the tribal population. The nutritional deficiencies are rampant. Tribal people are engrossed with superstitions and have faith in traditional healers who practice magico-religious rites along with indigenous herbal treatment for the common ailments. Traditional folk medicine and health culture play a significant role in shaping tribal life. These health practices differ from one tribe to another. Unless locality specific, tribe specific and need-based health care system is evolved which should be appropriate, acceptable, accessible, and affordable, the true goal of health for all cannot be achieved in India

Intervention and Prevention of Hereditary Hemolytic Disorders in Two Ethnic Communities of Sundargarh District of Orissa, India: An Experience from KAP Studies

Hereditary hemolytic disorders are important public health challenges in India. They cause a high degree of morbidity, mortality and fetal wastage in vulnerable communities. Tradition-bound-psychosocial influences are detrimental to the process of prevention. This study was designed to create awareness, motivate, and sensitize two major vulnerable tribal communities: Bhuyan and Kharia for hemoglobin and allied hemolytic disorders in addition to imparting prospective and retrospective genetic/marriage counseling. Bhuyan and Kharia tribal people in Orissa live in clusters practicing inter-village tribal endogamy and clan exogamy. For the present study, random sampling procedure for the selection of whole village was followed. Imparting of education, motivation and sensitization for carrier detection were carried out through IEC materials, holding interactive meetings and discussions at district, block and village levels. Both prospective and retrospective intervention and genetic/marriage counseling was done through the local PHC doctor. The pre- and post-intervention knowledge, attitude and practice (KAP) studies were conducted. Tribal people were not knowing the signs and symptoms of sickle cell disease (2.1%) and beta-thalassemia (1.0%), but after IEC, their knowledge was considerably improved (67.8%, 56.4%, respectively). Sickle cell patient needs treatment (37.6%) like folic acid, blood transfusion, etc. Beta-thalassemia is disease causes bloodlessness and is a transfusion dependent (73.2%). All patients of thalassemia major or sickle cell disease have carrier parents and carriers do not suffer from any clinical ailments. After intervention, it was known that G-6-PD is an enzyme, which helps in glucose metabolism of red cells (76.4%) and its hereditary deficiency causes hemolytic anemia, jaundice and black urination (73.8%) in malaria cases when anti-malarials are administered. Methodical and prudent intervention and preventive strategies found positive and encouraging impact on the affected people. Success of strategy showed apparent overwhelming response of the tribal people towards changing the traditional mindset and improving their health and quality of life

Health Care Challenges of Hereditary Common Hematological Disorders in Odisha, India

Medical Genetics over the past few decades have emerged as an important and powerful medical specialty with increasing appreciation of its role and function in the biomedical sciences. This emergence is related to a great extent to the progress in the Human Genome Project, which promises wide-ranging applications in the diagnosis, treatment and prevention of human diseases. Nevertheless, the discussion on the role of genetics as the preventive medicine and public health care also lead to ethical, legal and social concerns about general applicability of genetic testing in the ethnic communities. The interpretation of prevention in the context of genetic diseases leads to the unavoidable discussions of genetic engineering, stem cell transplantation, prenatal diagnosis and selective termination of pregnancy, as well as broader concerns about discrimination in health care coverage, gender bias, employment and insurance in the society. In Indian communities where consanguineous marriage is widely practiced, recessive/x-linked genetic disorders such as sickle cell disease and beta-thalassemia, will continue to gain greater prominence in the overall spectrum of ill health. Developing an understanding of these changes will require a wide-ranging and multidisciplinary investigative approach for which public health genetics is ideally suited to conditions in Odisha

Health Scenario of Major Tribals of Northern Orissa in Relation to Human Growth, Development and Nutrition and the Role of Genetic Factors in Smell and Tasting Abilities in Children

The nature of physical growth and development of children depends primarily upon the genetic endowments, nutritional status, psychosocial attitude and surrounding physical environmental conditions. School going children are the most important segment of the society who are affected by under- and mal-nutrition. Good nutrition is an indispensable component of healthy life. Tribal children studying in Ashram schools can be taken as representatives of the predominant tribes of the area. This study was aimed at evaluating the health profile in relation to growth, development and nutrition of a randomly selected cross section of 1038 Ashram school children aged six through 15 years in the state of Orissa. Following the standard methodology, it was noticed that nutritional complications are compounded due to ignorance, bad food habits, food fads, and poverty. About 71% of the Ashram school children showed mild to moderate anemia. According to different grades of malnutrition, the frequency of grade III malnutrition was very low in Ashram-school boys (1.4%) and girls (3.5%), with an average of 2.3%. The grade I as well as grade II malnutrition was also higher in girls (grade II =24.3%; grade I= 37.6%) as compared to boys (grade II=16.7%; grade I=31.5%) with an average of 19.9% and 34.1%, respectively for grade II and grade I malnutrition. There was a consistent pattern of increase in height and weight in the year six through fifteen of age, showing that height and weight of the Ashram school children increases with the corresponding advancement of age in both boys and girls. In general, the girls were shorter and lighter in weight than the boys. This pattern is consistent in the present study of Ashram school children in Orissa. It has been observed that apart from the genetic potential, the intra-uterine environment, mother’s nutritional status before, during and post pregnancy, and neonatal nutrition and associated traditional behavior drastically influence the growth and development of individuals. Adequate physical and mental fitness of parents is a marker for physical and mental fitness of the progeny. Heritable genetic factors are responsible for the ability to detect and identify smell and taste of food items of liking and disliking and for the fussy behavior toward different foods in children

A Cross-Sectional Study of Hemoglobin Disorders in Pregnant Women Attending Two Urban Hospitals in Eastern Coast of Odisha, India.

Pregnant women are an important segment of the society. They bear the children and provide nourishment to them during the period of gestation of nine months. The health of a mother reflects the health of a child. No such study of prevalence of hemoglobinopathy in pregnant women from India is available. The study objectives were: to find the prevalence (genetic burden) of hemoglobin disorders in pregnant women belonging to urban setting; identify the communities at risk, and to determine the hematological profile of native pregnant women of coastal Odisha. A cross-sectional study of pregnant women visiting for antenatal care at two urban hospitals, Bhubaneswar and Berhampur in Coastal Odisha was investigated. A total of 178 pregnant women attending antenatal care check up at two urban hospitals in coastal Odisha were studied. Appropriate statistical tools were used for analysis of data. High prevalence of 13.5% for hemoglobin disorders was observed in urban pregnant women visiting two major hospitals in coastal Odisha. Mild to moderate anemia was recorded. Reduced values of hematological indices in women afflicted with hemoglobin disorders than the normal controls were noted. Major hemoglobinopathies detected were: β-thalassemia trait (5.6%), sickle cell trait (5.6%), hemoglobin E trait (1.1%), sickle cell-E-disease (0.6%), and hemoglobin H disease (0.6%). Mandatory awareness, comprehensive clinical management, and genetic/marriage counseling are highly essential to ameliorate the sufferings of afflicted pregnant women of coastal Odisha

Estimating the burden of malaria in pregnancy: a case study from rural Madhya Pradesh, India

BACKGROUND: Malaria in pregnancy (MiP) is inadequately researched in India, and the burden is probably much higher than current estimates suggest. This paper models the burden of MiP and associated foetal losses and maternal deaths, in rural Madhya Pradesh, India. METHODS: Number of pregnancies per year was estimated from the number of births and an estimate of pregnancies that end in foetal loss. The prevalence of MiP, risk of foetal loss attributable to MiP and case fatality rate of MiP were obtained from the literature. The estimated total number of pregnancies was multiplied by the appropriate parameter to estimate the number of MiP cases, and foetal loss and maternal deaths attributable to MiP per year. A Monte Carlo simulation sensitivity analysis was done to assess plausibility of various estimates obtained from the literature. The burden of MiP in tribal women was explored by incorporating the variable prevalence of malaria in tribal and non-tribal populations and in forested and non-forested regions within Madhya Pradesh. RESULTS: Estimates of MiP cases in rural Madhya Pradesh based on the model parameter values found in the literature ranged from 183,000-1.5 million per year, with 73,000-629,000 lost foetuses and 1,500-12,600 maternal deaths attributable to MiP. The Monte Carlo simulation gave a more plausible estimate of 220,000 MiP cases per year (inter-quartile range (IQR): 136,000-305,000), 95,800 lost foetuses (IQR: 56,800-147,600) and 1,000 maternal deaths (IQR: 650-1,600). Tribal women living in forested areas bore 30% of the burden of MiP in Madhya Pradesh, while constituting 18% of the population. CONCLUSION: Although the estimates are uncertain, they suggest MiP is a significant public health problem in rural Madhya Pradesh, affecting many thousands of women and that reducing the MiP burden should be a priority

Dermatoglyphic patterns in children with chronic constipation

Analysis of the fine ridge configurations on the digits of the palms and soles (dermatoglyphics) may sometimes help in the diagnoses of certain medical disorders. Dermatoglyphic patterns have been reported to be associated with congenital anomalies, such as congenital heart disease, duodenal ulcer, abdominal pain, and constipation. The palmar dermatoglyphic patterns of 77 children with constipation (39 functional and 38 organic constipation) were recorded. The control group consisted of 84 children with inguinal hernia. Those patients with at least one arch identified on any digit of either hand were termed arch positive. There was no significant correlation between arch positivity and constipation (functional or organic), or inguinal hernia (chi square, P =0.9211). Therefore, the presence of palmar arches cannot be used as a screening device for children with chronic constipation, especially of organic etiology.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/44424/1/10620_2005_Article_BF02285186.pd

Classification and Regression Tree and Spatial Analyses Reveal Geographic Heterogeneity in Genome Wide Linkage Study of Indian Visceral Leishmaniasis

Genome wide linkage studies (GWLS) have provided evidence for loci controlling visceral leishmaniasis on Chromosomes 1p22, 6q27, 22q12 in Sudan and 6q27, 9p21, 17q11-q21 in Brazil. Genome wide studies from the major focus of disease in India have not previously been reported.We undertook a GWLS in India in which a primary ∼10 cM (515 microsatellites) scan was carried out in 58 multicase pedigrees (74 nuclear families; 176 affected, 353 total individuals) and replication sought in 79 pedigrees (102 nuclear families; 218 affected, 473 total individuals). The primary scan provided evidence (≥2 adjacent markers allele-sharing LOD≥0.59; nominal P≤0.05) for linkage on Chromosomes 2, 5, 6, 7, 8, 10, 11, 20 and X, with peaks at 6p25.3-p24.3 and 8p23.1-p21.3 contributed to largely by 31 Hindu families and at Xq21.1-q26.1 by 27 Muslim families. Refined mapping confirmed linkage across all primary scan families at 2q12.2-q14.1 and 11q13.2-q23.3, but only 11q13.2-q23.3 replicated (combined LOD = 1.59; P = 0.0034). Linkage at 6p25.3-p24.3 and 8p23.1-p21.3, and at Xq21.1-q26.1, was confirmed by refined mapping for primary Hindu and Muslim families, respectively, but only Xq21.1-q26.1 replicated across all Muslim families (combined LOD 1.49; P = 0.0045). STRUCTURE and SMARTPCA did not identify population genetic substructure related to religious group. Classification and regression tree, and spatial interpolation, analyses confirm geographical heterogeneity for linkages at 6p25.3-p24.3, 8p23.1-p21.3 and Xq21.1-q26.1, with specific clusters of families contributing LOD scores of 2.13 (P = 0.0009), 1.75 (P = 0.002) and 1.84 (P = 0.001), respectively.GWLS has identified novel loci that show geographical heterogeneity in their influence on susceptibility to VL in India