{'fraction_non_alphanumeric': 0.03309833910861513, 'fraction_numerical': 0.025809535189389412, 'mean_word_length': 5.065217391304348, 'pattern_counts': {'":': 0, '<': 2, '<?xml version=': 0, '>': 0, 'https://': 0, 'lorem ipsum': 0, 'www.': 0, 'xml': 0}, 'pii_count': 0, 'substrings_counts': 0, 'word_list_counts': {'cursed_substrings.json': 1, 'profanity_word_list.json': 0, 'sexual_word_list.json': 0, 'zh_pornsignals.json': 0}}
Prevalence of hemoglobinopathies in different regions and castes of Uttar Pradesh, India -A hospital based study

Access this article online


INTRODUCTION
India has multiple geographical, ethnic, religious and language divisions. 1 Traditionally, marriages are within these subdivisions only resulting in difficulties in estimating the burden of genetic diseases at local and national level. In India, the gene frequency of hemoglobinopathies is 4.2%, with a population over 1 billion and over 12000 infants born each year have a clinically significant hemoglobinopathies. 2 According to world health organization (WHO), 5% of the world population is a carrier for Hemoglobin disorders. 3 Within this overall disease classification, a 1989 WHO Working Group on guidelines for the control of haemoglobin disorders estimated a 3.9% carrier frequency for β -thalasemia in India, encompassing all types of β -thalasemia trait. 4 In various parts of India, the prevalence of β-Thalasemia is different: 6.5% in Punjab, 8.4% in Tamilnadu, 4.3% in south India, and 3.5% in Bengal. β-Thalasemia has a high prevalence in some communities, such as Sindhi, Luvana, Tribes, and Rajputs. The incidence of β-Thalasemia in Gujarat is 10% to 15%. 5 In the studies from north India, major groups of Thalassemics from Uttar Pradesh (UP) are the migrant ethnic populations of Punjab and Sindh origin. [6][7][8][9][10] Normally, the variation of Thalasemia trait and sickle cell hemoglobinopathies in India is between 3-17% and 1-44% respectively. Approximately 30 million Indians are carriers of β-Thalasemia and 7000 babies with β-Thalasemia are born every year. In different ethnic groups, the variation in carrier rate is between 0%-17%. 11

Prevalence of hemoglobinopathies in different regions and castes of Uttar Pradesh, India -A hospital based study
Although Thalasemia and other hemoglobinopathies are found in all the states of India and their prevalence is quite variable, very few studies are found in Uttar-Pradesh which explores the spectrum of hemoglobinopathies.
There is no such study, which identifies the geographic distribution of high-risk communities with frequencies of hemoglobinopathies.
Therefore preliminary hospital based study was carried out to determine the Prevalence of hemoglobinopathies in different regions and castes of Uttar-Pradesh state.

MATERIALS AND METHODS
This is a preliminary community based cross-sectional study conducted in the Department of Physiology with the collaboration of P.G. Department of Pathology at Kings George's Medical University (KGMU), Lucknow, U.P. between Sept. 2011 to Dec.2013. People of age group between18 to 65 years were randomly selected from Out-patient-department (OPD) on the basis of inclusion and exclusion criteria (included the suspected cases of hemolytic anemia without any systemic /chronic infection and drug abuse). An informed consent was obtained from the participants prior to the commencement of screening. The prepared questionnaires were provided to all the participants containing information related with age, sex, resident, nationality, educational qualification, occupation and financial status. The study was approved by Institutional ethics committee Kings George's Medical University, Lucknow, UP, India.

Sample collection and Preparation
Six ml venous blood was collected in EDTA vials and few drops of fresh whole blood were put on slides for blood group investigation .The anticoagulated blood was used for performing CBC (complete blood count) and hemoglobin electrophoresis. Haemolysate was prepared from whole blood by using saline and carbon tetra chloride with a concentration of 1.6 g/dl to 2.2 g/dl for hemoglobin electrophoresis. 12

Complete Blood Count
Hematological indices were measured using Sysmex MX-4 fully automated blood cell counter, which was calibrated with commercially available controls. The sickling test was performed using freshly prepared sodium metabisulphite solution as a reducing agent. 13

Electrophoresis
Agarose gel electrophoresis was performed using Tris-EDTA -borate buffer at alkaline pH (8.6). The electrophoresis pattern was visualized by staining the film with a Ponceau S stan. This pattern was then quantified using a densitometer (Beckman Coulter) at 600 nm wavelength. 12,14

Statistical Analysis
The collected data was checked and entered on Microsoft Excel Worksheet. Frequencies and percentages were used to describe categorical variables. The frequencies of nominal variables were compared by using the chi-square test. A p-value of ≤ 0.05 was considered statistically significant. The Indian society is fragmented into thousands of caste groups and more than 500 tribal groups including 75 primitive communities (Indian STs, govt. doc, 2011).

RESULTS
Total 1180 subjects were screened for assessing hemoglobinopathies and among them, 143 subjects were detected for hemoglobinopathies with its prevalence being 12.1%. The subjects belonged to different districts of UP state. Prevalence was analysed on the basis of presence or absence of hemoglobinopathy in the screened anemic (Hb<7 gm%) cases. The results were tabulated as follows:

DISCUSSION
The Indian population comprises numerous castes and communities, each revealing different genetic traits. Some hemoglobinopathies are also thalasemias but most are not. The distribution of beta-thalasemia is not uniform in Indian subcontinent. [15][16][17][18][19][20] The highest frequency of beta thalasemia trait is reported in Gujarat (10-15%), followed by Sindh (10%), Punjab (6.5%), Tamil Nadu (8.4%) and Maharashtra. 20,21 In our study, total screened subjects belonging from UP were 1180 in which 143 (12.1%) were having hemoglobinopathies. Ambekar  Contrary to our result, a study of Bangladesh in year 2012 reported that, out of 600 screened individuals, 253 (42.2%) were found normal and 347 (57.8%) had one or the other form of hemoglobinopathies. 24 This frequency of hemoglobinopathies is higher in comparison to our findings. Most of the hemoglobinopathies belongs to the age group <20 years and the second common age group 20-29 years. It may be because of the average life span of a thalasemia patient in India is approximately 20-25years. A study by Jain et al. observed that 54.15% patients were of age group 13-36 years, 39.88% of age 0-12 years. 25 This finding is supported by our study. However, Uddin et al., (2012), observed to majority of hemoglobinopathy cases belong to neonatal to childhood period (0-15 years) followed by reproductive age group (16-45 years) and only a few cases of old age (≥46years) were detected in Bangladesh. 24 A work done on blood donors found that the age of the subjects with hemoglobinopathies were 21-30 years. 21 All these studies revealed about varying hemoglobinopathy frequency according age group as well as geographical area. Our findings are highlighted to the facts of hemoglobinopathies. Patients have increased mortality and very few of them survive beyond the fifth decade.
The present study (   of hemoglobinopathies in both males and females. 24 Considering our result, it may be due to difference in sex predilection to hemoglobinopathies and more pronounced difference in the type of hemoglobinopathies acquired within a geographical area or males are more aware towards their health as compared to females.
In our study (  8 This may be due to breeding isolation of the people from the general stream and strictly following the tribal endogamy.

CONCLUSION
Our study was an attempt to study the prevalence of hemoglobinopathies in different regions and caste of Uttar Pradesh. The data regarding prevalence and distribution can be useful in prevention and management of various hemoglobinopathies which may play a vital role in the hospital blood bank as well as in the formulation of transfusion policies. Adequate measures and screening procedures should be performed concurrently. Thus, it can reduce the possibility of hemoglobin disorders of offspring, mental and physical trauma of affected patients and socio-economic burden of the family.
This % data does not reflect the exact status of hemoglobinopathies in general population since this is a hospital based study. Further large scale population based studies are needed for real status of hemoglobinopathies in different caste and geographical area.