A population-based cross-sectional study to determine the practices of breastfeeding among the lactating mothers of Patiala city.

INTRODUCTION: The present study was undertaken to study the breastfeeding practices and the influence of literacy and prevailing cultural factors on different aspects of breastfeeding. MATERIALS AND METHODS: A community-based cross-sectional study was conducted at Badungar, a semi-urban area in Patiala city including a total of 370 mothers. Mothers were interviewed using pre-formed, semi-structured Performa. The participant's demographic information, awareness and practices regarding breastfeeding were recorded by paying house to house visits. Data were analyzed using SPSS ver. 21. RESULTS: Only 27.30% of the mothers knew that breastfeeding should be initiated within 1 hour of birth. A total of 51.62% mothers considered prelacteal feed to be the right practice while 55.95% considered colostrum bad for the baby. Only 53.78% of the lactating mothers knew the correct meaning of exclusive breastfeeding. Only 24.86% mothers started breastfeeding within an hour after birth. Colostrum was not given by 57.29% of the lactating mothers while Prelacteal feeds were given by 50.81% mothers. Exclusive breastfeeding till 6 months was given by 45.67% mothers. A significant association was observed in high mother's education, high socio-economic status, nuclear status of family, history of antenatal care registration, and hospital delivery with exclusive breastfeeding (P < 0.01). CONCLUSION: Study concluded that breastfeeding practices were not optimum; hence promotion of knowledge regarding the right practices of breastfeeding and focus on the factors affecting them is highly warranted in this area.

Is hemoglobin e gene widely spread in the state of madhya pradesh in central India? Evidence from five typical families.

BACKGROUND: Red cell inherited hemoglobin (Hb) anomalies are commonly encountered in the central region of India. These cause a public health concern due to high level of morbidity, mortality, and fetal loss in the backward, underprivileged, and vulnerable people. PURPOSE: To report five typical families of Hb E disorders for the first time detected and identified from various districts of the state of Madhya Pradesh in central India. METHODS: Out of a total of 447 couples/families referred from a tertiary hospital in central India for investigations of anemia/hemoglobinopathies during the period from March 2010 to February 2014, we came across five typical rare couples/families of Hb E disorders (1.1%) worthy of detailed investigations that we have reported here. Laboratory investigations were carried out following the standard procedures after cross checking for quality control from time to time. RESULTS: For the first time, out of total 27 cases studied, we have encountered nine cases of heterozygous Hb E trait (33.3%), two members (7.4%) with Hb E-ß-thalassemia (double heterozygosity), two cases (7.4%) of sickle cell-Hb E disease (double heterozygosity), two ß-thalassemia traits (7.4%), three sickle cell traits (11.1%), 9 normal (33.3%), and none with homozygous Hb E disease. Cases of Hb E trait, Hb E-ß-thalassemia, and sickle cell-E disease showed moderate to severe anemia, and target cells, and reduced values of red cell indices like red blood cell count, Hb level, hematocrit, mean cell volume, mean cell Hb and mean cell Hb cencentration, describing abnormal hematological profile and clinical manifestations before blood transfusion. CONCLUSIONS: Double heterozygosity of ß-thalassemia with Hb S and Hb E is a rare entity, but occurs with severe clinical manifestations, testifying either migrations and/or genetic admixture. Co-occurrence of Hb E/ß-thalassemia in different districts indicates that these anomalies along with other hemoglobinopathies are wide spread in Madhya Pradesh and posing a major genetic burden on vulnerable people of central India.

Contribution of marital distance to community inbreeding, homozygosis, and reproductive wastage for recessively inherited genetic disorders in madhya pradesh, India.

BACKGROUND: Recessively inherited genetic disorders such as sickle cell anemia and ß-thalassemia are commonly encountered in heterozygous and homozygous form in India. These hemolytic disorders cause a high degree of reproductive wastage in vulnerable communities. Inbreeding is usually the mating between two related individuals. Homozygosis is antagonistic process of heterosis. PURPOSE: This study was aimed at finding reproductive outcome in carrier couples of sickle cell anemia, and ß-thalassemia in terms of reproductive wastage in relation to varied marital distance between partners in Madhya Pradesh. METHODS: A total of 107 carrier couples, 35 and 72, respectively of ß-thalassemia major and sickle cell anemia with confirmed affected offspring after taking detailed reproductive history were studied following the standard methodology in a tertiary hospital in Central India during March 2010 to February 2013. RESULTS: A majority of sickle cell and ß-thalassemia carrier couples, 77.8% and 65.7%, respectively, had married within physical distance of radius less than 50 kms. away from their native places. It was found that as the marital distance between two carrier partners of above disorders decreases, the number of abortions, still-births, neonatal mortality, infant mortality, and mortality under 10 years age increases, and vice versa, implicating inbreeding and homozygosis. The overall reproductive wastage of 28.2% and 18.6% was recorded in carrier couples of sickle cell disease and ß-thalassemia, respectively. This combined reproductive wastage is negatively correlated (r= -0.74; p<0.001) to physical marital distance between the life partners. CONCLUSIONS: Relative small population size clubbed with small marital distance leads to inbreeding resulting in homozygosity which increases chances of affected offspring by recessive or deleterious traits and contributes to decreased fitness of a couple or population in Central India.

Community expansion and gene geography of sickle cell trait and G6PD deficiency, and natural selection against malaria: experience from tribal land of India.

Malaria is globally endemic in tropical and subtropical regions and so is the hemoglobinopathies, thalassemias and glucose-6-phosphate dehydrogenase (G6PD) deficiency. This biological dogma of hyper-endemic all over the tribal land in India leads to high morbidity and mortality. The directed genetic abnormalities of human erythrocytes have found to decrease the susceptibility towards malaria parasites and the heterozygotes of abnormalities probably confer protection against the Plasmodium falciparum infection. A fascinating trend for an inverse relationship between sickle cell disorders and G6PD deficiency in scheduled caste and tribal communities of Central-Eastern India has been observed. When the frequency of sickle cell allele decreases in malaria endemic cross-section of the tribal population, the frequency of G6PD deficiency allele increases and vice versa. This medical aspect is important from an evolutionary biological background and could be an excellent point for molecular analyses to determine the signature of selection in the genomic regions of ß- globin and G6PD genes. Since the selection favors the mutation with least cost to the population [as the clinical manifestations of G6PD deficiency are mild and do not result in a complete loss of enzyme activity against the sickle cell disease with high morbidity and mortality in the region] and the predominant frequency of G6PD deficiency over the sickle cell disorders in some tribal communities, it seems that the replacement of sickle cell allele for G6PD deficiency is occurring in the scheduled castes/tribes of Chhattisgarh, Madhya Pradesh, Maharashtra and Odisha states in Central India. These findings are consistent with our previous studies carried out in Central-Eastern India.

Birth control necessary to limit family size in tribal couples with aberrant heterosis of G-6-PD deficiency and sickle cell disorders in India: an urgency of creating awareness and imparting genetic counseling.

OBJECTIVES: (i) To study the outcome of ignorance and lack of awareness about sickle cell disease and G-6-PD deficiency among Dhelki Kharia tribal families of Orissa, and (ii) to study the reproductive output in relation to clinical genetics and patho-physiological implications. METHODOLOGY: A random genetic study of screening for hemoglobinopathies and G-6-PD deficiency among Dhelki Kharia tribal community in Sundargarh district of Orissa was carried out for intervention during the year 2000-2004. A total of 81 Dhelki Kharia families were screened and six families with double heterozygosity for above genetic anomalies were encountered. About 2-3 ml. intravenous blood samples were collected in EDTA by disposable syringes and needles after taking informed consent from each individual in the presence of a doctor and community leaders and sent to laboratory at Bhubaneswar for hematological investigations. Analysis was carried out following the standard procedures after cross checking for quality control. RESULTS: There were 12 (about 52%) children out of 23 who were either suffering from sickle cell trait or disease in concurrence with G-6-PD deficiency in hemizygous/heterozygous/homozygous condition in Dhelki Kharia tribal community of Orissa. There were on an average 3.83 number of surviving (range 2-6) children per mother in families of G-6-PD deficiency and sickle cell disorders. The average number of children (3.83) born (range 2-6 children) per mother to carrier/affected mother was much higher than the average for India (2.73). CONCLUSIONS: It is very difficult to maintain the normal health of an affected child with aberrant anomalies due to exorbitant cost of treatment, frequent transfusions and huge involvement of economy. One of the implications of aberrant heterosis is its adverse affects on routine individual physiology and hard activities. It is suggested to limit the family size in carrier couples to avoid aberrant heterosis of hereditary hemolytic disorders in their offsprings.

Genetic diversity of hemoglobinopathies, G6PD deficiency, and ABO and Rhesus blood groups in two isolates of a primitive Kharia Tribe in Sundargarh District of Northwestern Orissa, India.

Tribal communities constitute about 8.2% of the total population of India. Their health needs are even larger than elsewhere in India; this study investigates the genetic diversity in relation to hemoglobinopathies, G6PD deficiency and, ABO and Rhesus (D) blood groups in two sects, i.e. Dudh (converted Christian) and Dhelki (Hinduised) Kharia, a primitive tribe in Sundargarh district of Orissa in Central-Eastern India. A randomized screening of 767 Kharia tribals (377 males and 390 females) belonging to all age groups and both sexes was done. Laboratory analysis was carried out following the standard methodology and techniques. Contrasting differences were observed in the frequency of hematological genetic disorders such as ß-thalassemia, sickle cell, hemoglobin E, G6PD deficiency, ABO and Rhesus (D) blood groups between the two subgroups. Dudh Kharia had no hemoglobin variant allele other than the high prevalence of ß-thalassemia trait (8.1%), whereas, their counterpart Dhelki Kharia had the high prevalence of sickle cell allele (12.4%), hemoglobin E allele (3.2%), and ß-thalassemia allele (4.0%). Frequency distribution of hemoglobin variants between Dudh and Dhelki Kharia tribe was statistically highly significant (p < 0.001). High G6PD deficiency was detected 19.2% and 30.7% in Dudh Kharia and Dhelki Kharia, respectively (p < 0.001), the average being 24.4% in Kharia tribe. Kharia tribes show a trend for replacement of sickle cell gene with G6PD-deficiency gene as the clinical manifestations of G6PD deficiency are mild (do not result in a complete loss of enzyme activity) against the sickle cell disease with high morbidity and mortality. Rhesus (D)-negative blood group was 1.1% in Dudh Kharia and absent in Dhelki Kharia (p < 0.05). This study showed genetic isolation of the two sects of Kharia tribe. Antimalarial drugs administration needs to be done with caution. Hematological disorders pose a major health challenge having multifaceted implications in public health genetics.

Hematological profile of twenty-nine tribal compound cases of hemoglobinopathies and G-6-PD deficiency in rural Orissa.

BACKGROUND: Hematogenetic disorders are commonly encountered in Orissa state in Central-Eastern India. Hemoglobinopathies and G-6-PD deficiency are the most frequently occurring hereditary hemolytic disorders causing high morbidity and mortality in vulnerable people. AIMS: There is no study available reporting combined condition of hemoglobinopathies and G-6-PD deficiency in a single individual from India. This study aims to assess the coincidence of G-6-PD enzyme deficiency with different hemoglobinopathies and beta-thalassemia and to evaluate the influence of combined conditions on the hematological expression. SETTINGS AND DESIGN: The study was carried out in rural Orissa with a random sampling procedure. MATERIALS AND METHODS: Following the standard methodology and techniques, this study highlights 29 tribal cases of compound occurrence of hemoglobinopathy with G-6-PD deficiency in a randomly conducted study in Sundargarh district of Orissa. STATISTICAL ANALYSIS: Results were subjected to statistical analysis. RESULTS: Both female heterozygotes and homozygotes of G-6-PD deficiency in association with different hemoglobinopathies showed reduced values of hematological indices: hemoglobin level, MCV, MCH, MCHC and RBC in comparison to normals. Red cell indices were found further reduced in male G-6-PD deficiency concurrence with hemoglobinopathies in homozygous condition, i.e. sickle cell disease (HbSS) or hemoglobin E disease (HbEE). Hematological indices were significantly lower except WBC counts and fetal hemoglobin in male G-6-PD deficiency with co-existing homozygous sickle cell disease in comparison with counterpart sickle cell trait and normal controls. CONCLUSIONS: Hemoglobin polymorphism with G-6-PD deficiency is advantageous to the community against lethal effects of malaria especially against Plasmodium falciparum at population level, but their combination is harmful at the individual level because of low levels of red cell indices to cope with the routine human physiology.

Intervention and prevention of hereditary hemolytic disorders in India: a case study of two ethnic communities of Sundargarh district in Orissa.

OBJECTIVES: This study was aimed at to sensitize, motivate, and screen two major vulnerable tribal communities--Bhuyan and Kharia, for hemoglobinopathies and allied hemolytic disorders, along with prospective and retrospective genetic/marriage counseling to the affected persons. For sustainability, imparting of relevant training to local paramedical staff, and to undertake periodic follow up for evaluation, intervention and clinical management through local PHCs/hospitals. METHODOLOGY: Tribal people in Orissa live in clusters practicing inter-village marriages following tribal endogamy and clan exogamy. The random sampling procedure for the selection of whole village was followed. Population of each tribe was representative because incoming and outgoing married women represent other surrounding villages belonging to their community. The pre- and post-intervention knowledge, attitude and practice (KAP) studies were conducted. Sensitization, motivation and education for carrier detection were carried out through IEC materials, holding interactive meetings and discussions at district, block and village levels. Standard biochemical and hematological techniques were followed for analysis of blood samples. Relevant training to local health personnel was imparted. Both prospective and retrospective intervention and genetic/marriage counseling was done through local PHC doctor. RESULTS: Study revealed high occurrence of hemoglobinopathies in Bhuyan (9.8%) and Kharia (13.3%) tribes, including uncommon hemoglobin variants like hemoglobin D, E, beta-thalassemia, and hereditary persistence of fetal hemoglobin (HPFH). G-6-PD enzyme deficiency was high in Dhelki Kharia (30.7%) and in Dudh Kharia (19.2%), whereas, it was recorded to be 21.1%, 16.3% and 13.7% in Paraja, Paik and Paudi Bhuyan subtribes, respectively. Use of antimalarials was cautioned in these tribal communities. Due to low frequency of Rhesus (D) negative (0.2-1.2%), the Rhesus (D) incompatibility problem seemed to be absent. Impact of methodical and prudent intervention and preventive strategies was found positive and encouraging. CONCLUSIONS: Adoption of a biomedical anthropological approach for implementing and evolving health seeking cooperative strategy that was tribal-oriented, tribal-friendly and tribal-participatory for intervention and prevention of common hemolytic disorders was found effective. Success of this strategy was apparent with overwhelming response of tribal people towards changing the traditional mindset, improving the health and quality of life. Health must meet the needs and perception of the people.

Infant mortality and reproductive wastage associated with different genotypes of haemoglobinopathies in Orissa, India.

BACKGROUND: Haemoglobinopathies, including sickle-cell disease and thalassaemia syndrome, are a group of blood diseases mostly confined to tropical and subtropical regions of the world. The spectrum of haemoglobin variants is a group of commonly encountered genetic conditions, with an average frequency of 19.32% in Orissa, varying from region to region and from community to community depending upon the type of mating practices. AIM: For the first time, the infant mortality rate (IMR), i.e. the number of deaths under 1 year of age (in a given year) per thousand live births in a particular area, was studied to find the cause of the high IMR and to relate it to different genotypes of haemoglobinopathies. RESULTS: IMR was found to be higher in couples with sickle-cell trait (75.9), beta-thalassaemia (184.2), and sickle cell/beta-thalassaemia (70.2) compared to normal couples (26.3). The reproductive wastage (abortions, stillbirths and neonatal deaths) and the number of deaths of offspring below 1 year of age (infant mortality) and below 10 years of age (childhood mortality) among affected couples in such families were also statistically significantly higher compared to normal parents. CONCLUSIONS: The progeny of sickle-cell trait, beta-thalassaemia trait, and sickle cell/beta-thalassaemia couples contributes substantially to the high neonatal/IMR in the coastal state of Orissa in Central-Eastern India. This study has revealed that in comparison to normal couples, couples who were carriers of haemoglobinopathies had a greater reproductive wastage. Screening and genetic counselling could be an important factor in reducing IMR in rural India. The traits/carriers of haemoglobinopathies should, specifically, avoid marriages and mating for the better health of subsequent generations.

A monozygotic twin pair with ß-thalassemia carrier status in a Dudh Kharia tribal family of Orissa.

BACKGROUND: The ß-thalassemia syndrome is a genetically inherited commonly encountered hematological disorder in the state of Orissa. It causes high degree of morbidity, mortality and fetal wastage in the poor vulnerable people. AIMS AND OBJECTIVES: There is an equal probability (50% chance) in every singleton pregnancy that a carrier parent of ß-thalassemia major would either bear normal or carrier offspring, but not two offspring with carrier of ß-thalassemia major genotype together. For the first time, a carrier parent of ß-thalassemia major gene has born progeny (three daughters and a twin male offspring) with a carrier status of ß-thalassemia major in Dudh Kharia tribal family studied from Sundargarh district of Orissa. MATERIALS AND METHODS: We screened randomly selected population of Dudh Kharia tribe from Sundargarh district of Orissa for hemoglobinopathies to assess the extent of the problem, design possible interventions and provide genetic counseling to them. A family with twin children was identified during screening in Lata Gaon in Bargaon block of Sundargarh district of Orissa for the above-mentioned study. Background information for this family such as name, age, sex, tribe, native place, reproductive history, family pedigree and clinical signs and symptoms were also recorded. Standardized genetic and hematological procedures and techniques were followed for analysis. RESULTS: Laboratory investigations for alkaline electrophoresis of blood lysate on cellulose acetate membrane showed raised hemoglobin A(2) level in mother (Hb A(2) = 5.3%), in three daughters (Hb A(2) =6.5, 5.9, 5.5% in chronological and birth order), in two twin sons (Hb A(2) =5.9% and 6.0%) and normal (Hb A(2) = 3.3%) for father. Hence, all the children i.e., three daughters and two twin sons, including the mother were ß-thalassemia carriers. Since all the hematological parameters i.e., red cell indices, G-6-PD enzyme activity, ABO and Rhesus blood groups and identical ß-thalassemia (trait) genotypes with identical clinical manifestations and hematological profile of the twin sons under similar environmental conditions, hence they were labeled as identical monozygotic twins. CONCLUSIONS: It is a rare occasion when a single pregnancy carries either one or two abnormal genotypes at a time in a womb in human beings. Monozygotic twins are genetically alike and provide appraisal of the expression of identical genotype under the different environmental conditions.

Identification of a rare blood group, "Bombay (Oh) phenotype," in Bhuyan tribe of Northwestern Orissa, India.

BACKGROUND: Blood group serology plays a vital role in transfusion medicine. The Bombay (Oh) phenotype is characterized by the absence of A, B, and H antigens on red cells and occurs rarely, especially in tribal populations of India. AIMS AND OBJECTIVES: This is a field-based random population study in the Bhuyan tribal community. The study reports three cases of the rare Bombay (Oh) phenotype for the first time in the Bhuyan tribe of Sundargarh district in North-Western Orissa. MATERIALS AND METHODS: Taking informed consent, red blood cells of 836 Bhuyan subjects were tested with three antisera, i.e., anti-A, anti-B, and anti-H (lectin) for forward reaction. Agglutinations of plasma with A, B, and O (H) red cells (reverse reaction) were also tested for the presence or absence of antibodies in the serum. Specialized tests like absorption-elution, titration of naturally occurring antibodies at different temperatures, inhibition of anti-H by O saliva secretor, and determination of secretor status were performed. RESULTS: Three cases of a rare blood group, Bombay (Oh) phenotype, (2 out of 244 Khandayat Bhuyan and 1 out of 379 Paudi Bhuyan from Hemgiri and Lahunipara blocks, respectively) in the Bhuyan tribe of Sundargarh district in North-Western Orissa were detected, giving an incidence of 1 in 122 in Khandayat Bhuyan and 1 in 379 in Paudi Bhuyan, with an average of 1 in 278 among the Bhuyan tribal population. This incidence is high in comparison to earlier studies reported from India. CONCLUSIONS: The practice of tribal and territorial endogamy in a smaller effective populations (for example, there are only 3,521 individuals in Paudi Bhuyan) results in smaller marital distance and inbreeding, leading to increased homozygous expression of rare recessive genetic characters like the Bombay (Oh) phenotype. This study further testifies that the incidence is higher in those states of India where the consanguinity is a common practice.

Do tribal communities show an inverse relationship between sickle cell disorders and glucose-6-phosphate dehydrogenase deficiency in malaria endemic areas of Central-Eastern India?

Tribal communities in India constitute the largest tribal population in the world. There are about 635 biological isolates (tribes and subtribes), which constituted 8.08% (about 84.3 million) of the total population of India as per the 2001 census. Out of 635 scheduled tribes (aborigines), 62 live in the state of Orissa alone forming about 10.8% of the tribal population of India. Orissa state occupies an important place, being the 3rd in rank for the highest concentration of tribal population in the country. In India, tribal communities are highly vulnerable to hereditary diseases and have a high degree of malnutrition, morbidity and mortality. The sickle cell haemoglobinopathy and glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency are important genetic and public health problems in Central-Eastern part of India. In order to map out these genetic disorders among the tribal people, a cross-section of 15 major tribal communities from different parts of Orissa was randomly screened for haemoglobin variants and G6PD deficiency. The high frequency of sickle cell haemoglobinopathy (0-22.4%) and G6PD deficiency (4.3-17.4%), with beta-thalassemia trait (0-8.5%) taking almost an intermediate position, was observed. For G6PD deficiency, hemizygous males as well as female heterozygotes and female homozygotes were detected. Twelve cases showed compound heterozygosity for sickle cell haemoglobinopathy and G6PD deficiency. There seems to be a trend towards an inverse relationship between the sickle cell allele and G6PD deficiency, and sickle cell and beta-thalassemia allele in a cross-section of malaria endemic (Plasmodium falciparum) tribal communities in Orissa. When the frequency of sickle cell allele decreases in a cross-section of malaria endemic tribal population, the frequency of G6PD enzyme deficiency and beta-thalassemia allele increases and vice versa. Natural selection had played a major role in favour of sickle cell, beta-thalassemia and G6PD mutation alleles so that they had probably evolved as a protective mechanism against the lethal effects of malaria in this part of the country. However, the calculated values of 0.074, 0.218 and 0.337, respectively, of Pearson's correlation co-efficient (r), showed no correlation between sickle cell disorders and G6PD deficiency, sickle cell disorders and beta-thalassemia, and G6PD deficiency and beta-thalassemia.

The spectrum of haemoglobin variants in two scheduled tribes of Sundargarh district in north-western Orissa, India.

BACKGROUND: Tribal communities in India constitute a major part of the population and are vulnerable to many erythrocytic hereditary and haematological disorders such as haemoglobinopathies. Genetic studies so far undertaken on tribal groups are scanty, patchy and incomplete. No field-based systematic studies of hereditary haemolytic disorders in Orissa are available. Further, the extent of haemoglobin variants among the tribals in the state is not known. The present study was carried out in the Bhuyan and Kharia tribes of Sundargarh district in Orissa. AIM: This study aims to find the prevalence/spectrum of haemoglobin variants in two major tribal groups, namely Bhuyan and Kharia and their subgroups, inhabiting the Sundargarh district in north-western Orissa. SUBJECTS AND METHODS: Following the probability proportionate to size cluster sampling procedure for villages, a randomized sampling procedure was adopted irrespective of the age, sex and individual susceptibility pattern, selecting exclusive villages of each sub-group of tribes in five blocks. A total of 1603 blood samples of 836 Bhuyan and 767 Kharia tribals were screened for haemoglobin variants in the Sundargarh district of Orissa. Laboratory analyses of blood samples were carried out following standard procedures. RESULTS: The study showed a high prevalence of haemoglobin variants in the Bhuyan (9.8%) and Kharia (13.3%) tribes, sickle-cell disorders contributing 2.4% and 5.6%, respectively. The sickle-cell gene was found to be completely absent in the Dudh Kharia tribe, whereas the frequency in the Dhelki Kharia was quite high (12.5%). For the first time, 1.4% prevalence of haemoglobin E disorders (10 traits and one disease case) was recorded in a tribal population, i.e. Delki Kharia in Orissa. No other haemoglobin variant except beta-thalassaemia trait was detected in the Dudh Kharia tribe (8.1%), showing their genetic isolation (p < 0.001) from the Delki Kharia (4.1%), the average being 6.3% in the Kharia tribe. Out of three subgroups of Bhuyan studied, the sickle-cell trait was detected only in Paraja (0.9%) and Paik (7.4%), and not in Paudi (Hill) Bhuyans. However, the beta-thalassaemia trait was detected in an average 6.5% in the Bhuyan tribe: in Paudi (2.1%), Paik (7.8%) and in Paraja (12.7%). For the first time in the tribes of Orissa a family was found with haemoglobin D trait (in Paik Bhuyan) and another with hereditary persistence of fetal haemoglobin (in Paraja Bhuyan). Clinical and haematological features of these disorders were similar to those reported in previous studies carried out in India. CONCLUSION: Isolates of the Bhuyan and Kharia tribes show intra-group variations in prevalence of haemoglobin variants due to founder effect, genetic drift, and the practice of inbreeding in varied geographical and ecological niches in the Sundargarh district of Orissa.

Spectrum of hemoglobinopathies in the state of Orissa, India: a ten years cohort study.

OBJECTIVES: i) To determine the pattern of spectrum of hemoglobinopathies in the state of Orissa, ii) To find the ethnic groups at high risk of hemoglobinopathies, iii) Geographical distribution of hemoglobinopathies, and iv). To know epidemiological aspects of hemoglobinopathy cases in Orissa. MATERIAL AND METHODS: One thousand fifteen cases of anemia were analysed referred from different peripheral hospitals and Medical Colleges and Hospitals of Orissa state for diagnosis and counseling during 1994 to 2003. About 2-3 ml. intravenous blood samples were collected after obtaining informed consent from each individual. Hematological indices were measured using MS4 Cell Counter. Background data of each individual were recorded like age, sex, caste, place of origin, consanguinity, etc. Hemoglobin electrophoresis was carried out on CAM in Tris-EDTA-Borate buffer at pH 8.9 and quantification of A2 fraction of hemoglobin by elution method. The value more than 3.5% of A2 fraction of hemoglobin was taken as cut off point for beta-thalassemia trait and more than 10% as Hb E. Hb electrophoresis in acidic medium (pH 6.2) was also carried out to confirm Hb D or E band. Estimation of fetal hemoglobin was done. Family studies were carried out to confirm the diagnosis. RESULTS: Most common hemoglobinopathies observed out of 1015 cases were: sickle cell trait (29.8%), sickle cell disease (7.5%), sickle cell-beta-thalassemia (1.7%), beta-thalassemia trait (18.2%), thalassemia major (5.3%), thalassemia intermedia (0.9%), Hb E trait (0.9%), Hb E disease (0.3%), E-beta-thalassemia (0.7%), Hb D trait (0.2%) and SD disease (0.2%). Sickle cell disorders with high level of fetal hemoglobin were common in general castes (0.3-20.7%), scheduled castes (0-8.9%) and scheduled tribals (0-5.5%). Transfusion dependent beta-thalassemia syndrome was prevalent in Brahmin, Karan, Khandyat, Teli, etc. Most of the cases belong to Anugul district, followed by Khurda, Nayagarh, Phulbani, Cuttack, Jajpur, Dhenkanal, Ganjam, Keonjhar, Mayurbhanj, etc. CONCLUSIONS: The heterogeneous population is harbouring almost all major hemoglobinopathies in general castes, scheduled castes and tribes, belonging to Coastal and South-Western regions of Orissa. This study provides for the first time a comprehensive database on the pattern of spectrum of hemoglobinopathies in Orissa.

Hereditary persistence of foetal haemoglobin in a tribal family of Orissa, India.

BACKGROUND: The hereditary persistence of foetal haemoglobin (HPFH) is an autosomal co-dominant, rare, inherited condition. It occurs due to failure of switching off of the production of gamma-chains during the neonatal period leading to a high level of foetal haemoglobin in adult life but without any anaemia. During screening a randomly selected Paraja Bhuyan tribal population for haemoglobinopathies in the Sundargarh district of western Orissa, HPFH was detected in a family. METHODS: Horizontal haemoglobin electrophoresis was carried out to identify abnormal haemoglobins and quantitation of the haemoglobin A2 fraction was done by the elution method at pH 8.9. Haemoglobin F was estimated. Haematological parameters were studied using an automated blood cell counter. The acid elution-staining test was used to demonstrate the intracellular distribution of haemoglobin F-containing erythrocytes. RESULTS: Four members of the tribal family had a high level (6.5%-13.7%) of foetal haemoglobin--the mother and 3 children. None of them had any apparent clinical or haematological abnormality except for mild pallor in the two younger children. The add elution-staining test revealed pancellular distribution of foetal haemoglobin in the erythrocytes of all the affected family members. CONCLUSION: Genetic traits such as hereditary persistence of foetal haemoglobin, although rare, are prevalent in India.

Morphological and regional variations in body dimensions of the Gujjars of different localities in north-western India.

Physical features and somatometric characters of the wide spread Gujjar population in North-Western India are fascinating. It is all the more interesting to study their morphological and regional variations in the body dimensions. In this paper, anthropometric characters of 200 adult subjects each belonging to Hindu Gujjars in the Ropar District of Punjab and Muslim Gujjars in the Chamba District of Himachal Pradesh in the North-Western part of India were compared. They differ significantly from each other for many physiognomic measurements, suggesting the biological diversity between the two population groups. Further, the comparison of anthropometric measurements between the different localities of the Gujjars showed morphological variations and regional diversity of the isolates in North-Western India. These findings may be attributed to the founder effect, genetic drift, and breeding and geographical isolation of the populations under study and not to secular trends. The findings have also been compared and discussed with the available results of other local populations in North-Western India.

Control and prevention of the genetic load of haemoglobinopathies in India.

Haemoglobinopathies and thalassaemia are inherited disorders which affect a large number of individuals in India. With a population of 950 million and a birth rate of 28 per thousand, it has been estimated that there would be about 42 million carriers and about 12,000 infants born each year will be inheriting a major haemoglobin disorder in India. In view of this heavy genetic load, frequent blood transfusions, high cost of treatment and management, physical trauma, and psychological and mental harassment to the patients and their families, it has been realized that the preventive genetic approach is the most suitable for the Indian setting. After carrier detection, prenatal diagnosis and genetic counselling are important options for couples at high risk for haemoglobinopathies. A prerequisite for a successful prevention and control programme is health education, public awareness and sensitization, and screening of the population for identification of heterozygotes or carriers in the community.

Hereditary hemolytic disorders among the Ashram school children in Mayurbhanj district of Orissa.

Hemoglobinopathy and allied hemolytic disorders are important genetic and public health problems in Orissa. These cause high degree of hemolytic anemia, morbidity and mortality in the vulnerable populations. A total of 465 Ashram School children aged 6-15 years belonging to Bathudi, Bhumiz, Kolha and Santal tribes in six localities of Mayurbhanj district of Orissa were screened for hemoglobinopathy, glucose-6-phosphate dehydrogenase (G-6-PD) deficiency, ABO and Rhesus blood groups serology and any other hereditary condition. The sickle cell trait (Hb AS) was detected in Santal (1.0%), Bathudi (1.0%) and Bhumiz (0.9%) tribals. No case of homozygous sickle cell disease was detected among the tribes of Mayurbhanj district. The beta-thalassemia trait was detected in Santal (8.0%), Kolha (2.0%), Bhumiz (1.7%) and other tribal (3.8%) students. Sickle cell hemoglobinopathy and beta-thalassemia are prevalent in this district among the tribes, but the frequency is very low. The prevalence of G-6-PD deficiency is considerably high (7.7-9.8%) among the tribes of Mayurbhanj district in Orissa. Out of total 43 G-6-PD deficient subjects, there were 32 males, 9 heterozygote females and 2 homozygous females. This shows that the antimalarial drugs should be administered with caution as these cause hemolytic anemia, sometimes fatal also. The distribution of ABO and Rhesus blood groups shows the preponderance of B blood group (33.8%) over O (29.6%) and 2.1% cases of Rhesus negativity were detected among the Bathudi tribe. This pattern is consistent with the characteristic features of tribal populations in India.

Fetal outcome and childhood mortality in offspring of mothers with sickle cell trait and disease.

The sickle cell hemoglobinopathy is a major public health problem which causes high morbidity and mortality in India. Although the hematological and clinical profile of the patients is extensively studies. The reproductive outcome of mothers afflicted with sickle cell trait and disease is still unknown in India. In a retrospective study, we have examined the reproductive profile of 190 mothers afflicted with sickle cell, attending Medical Out-Patient Department at V.S.S. Medical College Hospital, Burla in Western Orissa, India during the year 1991-1992. Seventy-three mothers who were found normal after medical examination and were free from hemoglobinopathic disorders, anemia, jaundice, iron deficiency, etc. constituted the control group and 66 mothers with sickle cell trait and 51 with sickle cell disease formed the study group. The reproductive history was recorded for number of conceptions, fate of offspring, live birth, surviving children and childhood mortality. Hematological investigations and hemoglobin electrophoresis were done as per the standard procedure. There was no difference in mean number of livebirths per mother between controls and sickle cell trait mothers. But between the controls and sickle cell homozygotes (p < 0.01), and sickle cell trait and disease (p < 0.01) mothers, this mean number was significant. For abortions/miscarriages, the difference between controls and sickle cell homozygotes (p < 0.001), and sickle cell trait and disease (p < 0.01) mothers was highly significant. The number of stillbirths per mother in homozygous sickle cell mothers was higher (p < 0.01) as compared to controls. There were significantly higher childhood deaths in sickle cell trait (p < 0.05) and disease (p < 0.05) mothers than in the controls. It seems that the sickle cell heterozygote and hemoglobin E heterozygote mothers are genetically better fit than the sickle cell homozygotes. Further, the sickle cell disease is clinically severer than the hemoglobin E disease in India probably due to molecular diversity.

Genetic epidemiology of the three predominant abnormal hemoglobins in India.

Hemoglobinopathies in India are Important public health problems. Of the several abnormal of hemoglobin molecules, there are three variants, viz. Sickle cell, hemoglobin E and hemoglobin D which are predominantly prevalent in India. The cumulative gene frequencies of these hemoglobins have been found to be 5.35% in India. The average gene frequency of sickle cell and hemoglobin D in India has been observed to be 4.3% and 0.86%, respectively. In the North Eastern region of India, the gene frequency of hemoglobin E is 10.9%. Gene frequencies and spatial distribution of the predominant abnormal hemoglobins in India have been discussed in variance with the previous generalisations.