Incidence of Sickle Cell Anaemia and Thalassaemia in Central India (original) (raw)
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MVP Journal of Medical Sciences, 2017
Introduction: Sickle cell haemoglobinopathy is an inherited hemoglobinopathy resulting from a mutation occurring in betaglobin gene, on chromosome 11. The gene is prevalent in some tribes of North Maharashtra. The main aim of the study is to determine haemoglobin patterns in cases with sickle cell hemoglobinoathies in North Maharashtra using HPLC testing system. Material and Methods: This is a prospective study done over a period of 6 years. 10081 patients having positive solubility test or negative solubility test but having clinical suspicion of Sickle cell hemoglobinopathies were studied in detail and all samples were subjected for HPLC testing. Results: Prevalence of sickle cell hemoglobinopathy in this study was 70.36%. Most common pattern of haemoglobin observed was SA (89.72%). A slight female preponderance (54%) was noted. Predominant age group was paediatric (39.96%), followed by12-20yrs (33.97%). Oldest case for HbSS was 55yrs male. Predominant category affected was ST (82...
Epidemiology of Sickle Hemoglobin in India
rmrct.org
The inherited disorders of hemoglobin are the commonest monogenic disorders in India. Of these, α-thalassemia is seen practically in every community of the country with varying frequency while sickle gene is confined mainly to dravidians and predravidians tribes inhabiting malaria endemic regions. It is also seen among certain caste groups from coastal areas of Orrisa and Andhra Pradesh. Sickle hemoglobin was first detected by Lehman and Cutbush in 1952 among the tribals from Nilgiris. During the last 54 years, several groups of investigators conducted hospital based or epidemiological surveys in various ethnic groups. Based on these surveys, prevalence of sickle gene is found to be 0-18% in north eastern India, 0-33.5% in western India, 22.5-44.4% in central India and 1-40% in southern India and the gene frequency of Hb-S varies between 0.031-0.41. Wide variability in the prevalence of Hb-S trait is observed in population groups within small geographical areas. Apart from malaria, factors like endogamy, ethnicity and inbreeding are responsible for this variability. Hence, a systematic study in a small geographic area like a district is required to understand the population structure and natural history of sickle syndromes. This should be followed by creating awareness, genetic counseling prenatal diagnosis (if possible) to control the birth of sicklers.
Hemoglobin, 2018
Hemoglobinopathies evolved as a protective mechanism against malaria, which exhibit selective advantage in the heterozygous state. However, in a homozygous recessive condition, it poses a serious socioeconomic burden. Sickle cell anemia is an autosomal recessive hemoglobinopathy associated with erythrocytes sickling, vaso-occlusive crisis (VOC), as well as multi-organ failure and death. The coinheritance of other hemoglobinopathies is known to substantially modulate the clinical manifestation of sickle cell anemia. In the present study, we aimed to analyze the coinheritance of b-thalassemia (b-thal) in Hb S (HBB: c.20A>T) patients. The study includes 918 sickle cell anemia patients from 10 ethnic populations of Chhattisgarh State, India. Complete blood counts (CBCs) and hemoglobin (Hb) high performance liquid chromatography (HPLC) fractionation data were collected from patient record books. We observed Hb S-b-thal in all the analyzed populations. Interestingly, high frequencies of Hb S-b-thal have been observed in Satnami (53.8%), Rawat (47.1%), Gond (35.1%) and Panika (30.6%) populations. Inter-population comparison of hematological parameters [Hb F (p < 0.001), Hb A 2 (p < 0.001), Hb (p ¼ 0.03) and red blood cell distribution width (RDW) (p < 0.001)] revealed significant differences. We also observed that mean Hb F levels were significantly higher in Hb S compared to Hb S-b-thal patients in the respective populations. Our study highlights the higher prevalence of b-thal as well as the compound heterozygosity for Hb S and b-thal in various populations of Chhattisgarh State, India.
BACKGROUND Thalassaemias and haemoglobinopathies are highly prevalent in India. Identification of these disorders is important for epidemiologic purposes and for prevention of thalassaemia major and clinically severe haemoglobinopathies. The use of high performance liquid chromatography (HPLC) as a screening method for detection of these groups of disorder is increasing in last two decades. The aim is to study of thalassaemias and haemoglobinopathies using high performance liquid chromatography as a diagnostic tool in patients of a tertiary care hospital of Odisha. METHODS AND MATERIALS A total of 788 cases were included in the study. Samples were analysed on the BIO-RAD D-10 TM dual mode HPLC system. Personal history, family history, peripheral blood findings and sickling test result were correlated. Family studies were done whenever required and possible. However, secondary confirmatory tests were not done. Statistical analysis was done on Microsoft Excel. Continuous variables were expressed as mean ± SD. Categorical variables were expressed as frequencies and percentages. RESULTS Abnormal HPLC patterns were seen in 37.18% of cases. Sickle cell heterozygous (15.10%), sickle cell homozygous (9.90%) and β-thalassaemia trait (6.10%) were the most common abnormalities found. Other patterns detected include β-thalassaemia major and intermedia, compound heterozygous state of HbS and β-thalassaemia, HbE trait, HbE disease, double heterozygous state of HbS and HbE, HbE and β-thalassaemia and HbS and hereditary persistent of foetal haemoglobin, HbD Punjab trait, Hb Lepore trait and HbH disease. CONCLUSION Sickle cell along with β-thalassaemias are the major abnormal haemoglobins in Odisha. Premarital and antenatal screenings are important measures to prevent birth of children with severe haemoglobin disorders. HPLC is a rapid and reliable technique for identification of various haemoglobin fractions.
Sickle Cell Hemoglobin E Disorder – A Case Study in Balasore District of Odisha, India
Frontiers in Medical Case Reports, 2021
Hemoglobinopathies are the cause of some major genetic and social health problem in many countries including India and sickle cell disorder is one of the most debilitating genetic disease affecting a large population. Though recognized, in and as various groups of genetic mutations, double heterozygous state of sickle cell and hemoglobin E (HbSE) is uncommon in Odisha state. Due to migration and racial inter-caste marriages between the populations of different neighboring states the possibilities of detecting Hb SE disease in Odisha is rising but this rare case of Hb SE has never been reported in Balasore district so far. In the present instance, a 24 year old male was diagnosed with sickle cell hemoglobin E disorder. The case was confirmed through Hb electrophoresis, slide based sickle test, HPLC and ARMS PCR. The peripheral smear analysis showed the presence of microcytic RBC and Hypochromasia. No splenomegaly and hepatomegaly was observed. The case was mostly asymptomatic and wit...
Indian Journal of Human Genetics, 2012
The distribution of -thalassemia and sickle cell disorders varies geographically and from community to community. Various hemogloginopathies are major public health problem in Gujarat, but the data pertaining to their occurrence and prevalence, especially in Surat, are scarce. According to the census of India Report 2001 (Surat Municipal Corporation), the population of Surat district is 4,995,174; in rural region, it is 1,999,357 and in urban area, it is 2,995,817. Surat has cosmopolitan population, and several communities are living in the district from centuries. Gujarati community dominates and others are Marwaris, Punjabis, Marathi, and Hindi speaking north Indian population. The analysis of transfusion-dependent thalassemia major cases, attending our center, had suggested that there is a high prevalence in Muslims, Patels, Sindhis, Modh Banias, and Mahayavanshi. The sickle cell disease (SCD) was predominantly found in Dhodia Patels, Kolis, and Gamits. Muslims are divided into 2 major religious, endogamous sects-Shia and Sunni, and several castes like Momins, Memon, Khoja, Bohra, Pathan, Sayied, Shaikh etc. are found in them. As many Muslim sub-castes originate from different geographical locations, this community was selected. This study includes only Sunni Muslims who follow the trend of consanguineous marriages. Certain sub-castes of Patel [1] and tribal communities are already studied for sickle cell disorders. [2-4] Dhodia Patel, the third largest tribal group in Gujarat, needs -thalassemia studies as thalassemia major cases are identifi ed in this community. The majority of them are settled in Surat and Valsad districts, but they are also found in Daman and Diu, Dadra and Nagar Haveli,
Prevalence of Hemoglobinopathies in Tribal Region of India: A Retrospective Observational Study
Advances in Bioscience and Clinical Medicine
Hemoglobinopathies are the common inherited diseases around the world. Thalassemia & sickle cell disease are the important challenges for tribal populations in India. Many study demonstrated the prevalence of haemoglobinopathies in India & among tribes of India but limited data available from Baster tribal region. This study will further lightens the haemoglobinopathies among Baster region of Chhattisgarh state of India. Methods: It was an retrospective observational study, carried out in Late. BRKM Government Medical College, Dimrapal, Jagdalpur which was located at baster region of Chhattisgarh state of India aims to determine the prevalence of various hemoglobinopathies in Baster. Out of 421 suspected patient’s screened for hemoglobinopathies by Capillary electrophoresis. Statistical Package for Social Sciences (SPSS) used for descriptive analysis. Results: Out of 421 cases, 276 were diagnosed with various type of hemoglobinopathies {49% has HbAS (sickle cell anaemia trait), 3% H...
BACKGROUND: From the data of transfusion-dependent thalassemia major cases, the 4 communities (Muslim, Dhodia Patel, Kachhiya Patel, and Modh Bania) with high prevalence but not studied methodically were selected. AIM: The aim of this study is to fi nd prevalence of -thalassemia and sickle cell anemia in 4 selected communities and also to evaluate hematological profi le in them. MATERIALS AND METHODS: For screening of -thalassemia trait (BTT) and sickle cell trait (SCT), all samples were tested for red cell indices, solubility, HbA2 level and doubtful cases confi rmed on HPLC. STATISTICAL ANALYSIS: Mean ± SD, 2 and ‘t’ tests were used to evaluate the signifi cance. RESULTS AND CONCLUSION: Among 4 selected communities, the highest prevalence of BTT was observed in Modh Bania (6.2%) and Kachhiya Patel (6.05%) and that of SCT in Dhodia Patel (14.0%). Signifi cantly higher prevalence of BTT was observed in Memon (P < 0.0001) and of SCT in Khalifa 6.6% (P < 0.0001) compared to other Muslim sub castes. Anemia was more prevalent in BTT compared to non-BTT and non-SCT subjects. 80% of Dhodia Patel non-BTT and non-SCT subjects showed microcytic red cell morphology. Their Mean ± SD Hb concentration was 12.1 ± 1.73, hence iron defi ciency cannot be a sole reason. This community needs -thalassemia and iron studies. Key words: -thalassemia trait, Dhodia Patel, Kachhiya Patel, Modh Bania, Muslim, sickle cell trait, Surat