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Pradhan V.D.,National Institute of Immunohaematology Indian Council of Medical Research
Journal of Association of Physicians of India | Year: 2012

Aim: To identify APO1/FAS promoter (-670A/G) genotypes in Indian Systemic Lupus Erythematosus (SLE) patients and correlate with clinical presentation and serum FAS (sFAS) levels. Material and Methods: Seventy clinically diagnosed SLE patients and seventy healthy normals were included. SLE patients were classified according to the American Colle ge of Rheumatology (ACR) criteria. Disease severity was assessed by Systemic Lupus Erythematosus Disease Activity Index (SLEDAI). PCR-RF LP method was used to detect -670A/G APO1/FAS promoter polymorphisms. sFASLEvels were detected by ELISA. Results: Out of 70 SLE patients, 35 were LN and remaining 35 were Non- LN. SLEDAI score was higher in LN patients (6-32) as against in Non-LN patients (6-23). Among SLE patients APO1/F AS promoter polymorphisms (A/G) showed highest frequency (54%), followed by A/A (31 %) and G/G (15%) as compared to 60%, 10% and 30% respectively among normal population. Among SLE patients AA genotype showed statistically significant association against normals and 47% patients with A/A genotype showed severe clinical presentation (SLEDAI> 18). Mean sFASLEvels in SLE patients were 4771.5 ± 3280.9 pg/ml as compared to 1131.4 ± 375.8 pg/ml in normals. Among SLE patients showing positivity for sFAS, 57.5% had A/G genotype, 27.5% had A/A genotype and 15% had G/G genotypes. Conclusion: This study showed a significant association of A/A genotype with severe clinical presentation in Indian SLE patients where sFAS might influence the severity and extent of organ involvement. Still a larger study is needed to support these findings. © JAPI.

Madan N.,University of Delhi | Sharma S.,University of Delhi | Sood S.,University of Delhi | Colah R.,National Institute of Immunohaematology Indian Council of Medical Research | Bhatia H.,National Institute of Immunohaematology Indian Council of Medical Research
Indian Journal of Human Genetics | Year: 2010

Introduction: India is an ethnically diverse country with an approximate population of 1.2 billion. The frequency of beta-thalassemia trait (βTT) has variously been reported from <1% to 17% and an average of 3.3%. Most of these studies have been carried out on small population groups and some have been based on hospital-based patients. There is also a variation in the prevalence of hemoglobinopathies in different regions and population groups in the country. A high frequency of Hb D has been reported from the North in the Punjabi population, Hb E in the eastern region of India and Hb S is mainly reported from populations of tribal origin from different parts of the country. Objectives: To study the gene frequency of βTT and other hemoglobinopathies in three regions East (Kolkata), West (Mumbai) and North (Delhi) in larghe population group (schoolchildren) for a more accurate assessment of gene frequency for planning of control programmes for haemoglobinopathies. Materials and Methods: This study included 5408 children from 11 schools in Delhi, 5682 from 75 schools in Mumbai and 957 schoolchildren from Kolkata who were screened for TT and haemoglobinopathies. These included 5684 children from 75 schools in Mumbai and 5408 children from 11 schools in Delhi. Children were 11-18 years of age of both sexes. The final report is, however, only on 11090 schoolchildren from Mumbai and Delhi as data from Kolkata was restricted both in numbers and objectives and could not be included for comparison. Results: The overall gene frequency of TT in Mumbai and Delhi was 4.05% being 2.68% and 5.47% in children of the two cities respectively. In Mumbai, the gene frequency was evenly distributed. Majority of the children with TT from Mumbai were from Marathi (38.9%) and Gujarati (25%) speaking groups. Gene frequency was >5% in Bhatias, Khatris, Lohanas and Schedule Castes. In Delhi, a higher incidence was observed in schoolchildren of North and West Delhi (5.8-9.2%). The schoolchildren of North and West Delhi comprised predominantly of Punjabi origin compared to children in the South of the city (2.2%, 2.3%). When analyzed state-wise, the highest incidence was observed in children of Punjabi origin (7.6%) and was >4% from several other states. Majority of the traits from Mumbai were anemic (95.1% male and 85.6% in female). The prevalence of anemia was lower (62.7% male and 58.4% female) children with TT from Delhi. This was a reflection of the higher prevalence of anemia in children without hemoglobinopathy in Mumbai than in Delhi. Nutritional deficiency was probably more severe and rampant in children Mumbai. Gene frequency of Hb D was greater in schoolchildren from Delhi (1.1%) than in Mumbai (0.7%). Hb S trait (0.2%) was observed exclusively in children from Mumbai. A low incidence of Hb E trait (0.04%) was seen in children in Mumbai. A higher incidence is reported from the East. The number of cases studied from the eastern region was small as the data from the East (Kolkata) could not be included in the analysis. Conclusion: This study comprises a larger number of children studied for the gene frequency of TT and other hemoglobinopathies from India. Population groups with higher gene frequencies require screening programmes and facilities for antenatal diagnosis as well as increased awareness and educational programmes to control the birth of thalassemic homozygotes. The overall carrier frequency of TT was 4.05% and reinforces the differential frequency of -thalassemia trait in schoolchildren from Delhi and Mumbai and the higher incidence of hemoglobin D in Punjabis as reported previously. The birth incidence calculated thereof for homozygous thalassemics would be 11,316 per year which are added each year to the existing load of homozygous thalassemics. This is much higher than the previously reported number of births annually. Hence suitable control measures need to be undertaken urgently in India.

Upadhye D.S.,National Institute of Immunohaematology Indian Council of Medical Research | Jain D.,Government Medical College | Nair S.B.,National Institute of Immunohaematology Indian Council of Medical Research | Nadkarni A.H.,National Institute of Immunohaematology Indian Council of Medical Research | And 2 more authors.
Journal of Clinical Pathology | Year: 2012

Objective: To evaluate the significance of non-deletional α gene variants identified in neonates during newborn screening for sickle cell disorders. Methods: 1534 newborn babies were screened in the last 2 years for sickle cell disease using a targeted screening approach. Investigations included a complete blood count, high performance liquid chromatography analysis, cellulose acetate electrophoresis (pH 8.9), heat stability test, restriction digestion and Amplified Refractory Mutation System for confirmation of sickle haemoglobin (Hb S), α genotyping by multiplex PCR and DNA sequencing. Results: Three non-deletional α gene variants, Hb Fontainebleau, Hb O Indonesia and Hb Koya Dora, were identified in heterozygous condition in newborns. This is the first report of Hb Fontainebleau in association with Hb S. The baby had anaemia at birth (Hb 11.4 g/dl) with no cyanosis, icterus or need for transfusion. She had occipital encephalocoele and was operated on day 24 to remove the mass. The baby diagnosed with Hb O Indonesia in combination with Hb S also had a low haemoglobin level of 12.7 g/dl. Conclusion: Newborn screening for sickle cell disorders also enabled us to identify three α globin chain variants. Two babies who inherited Hb Fontainebleau and Hb O Indonesia along with Hb S had reduced Hb levels at birth and need to be followed up.

Mohanty D.,National Institute of Immunohaematology Indian Council of Medical Research | Gorakshakar A.C.,National Institute of Immunohaematology Indian Council of Medical Research | Colah R.B.,National Institute of Immunohaematology Indian Council of Medical Research | Patel R.Z.,Baroda Medical College | And 13 more authors.
Hemoglobin | Year: 2014

Although iron deficiency anemia is very common in India, systematic large studies on the prevalence and hematological consequences of iron deficiency among carriers of β-thalassemia (β-thal) and other hemoglobinopathies are lacking. A multi center project was undertaken to screen college/university students and pregnant women for iron deficiency anemia and various hemoglobinopathies. Fifty-six thousand, seven hundred and seventy-two subjects from six states, Maharashtra, Gujarat, Karnataka, West Bengal, Assam and Punjab, were studied. Iron deficiency anemia was evaluated by measuring zinc protoporphyrin (ZPP) and hemoglobin (Hb) levels, while β-thal and other hemoglobinopathies were detected by measuring the red cell indices and by Hb analysis using high performance liquid chromatography (HPLC). College boys (2.2%), college girls (14.3%) and antenatal women (27.0%) without any hemoglobinopathies had iron deficiency anemia. Among the β-thal carriers, the prevalence of iron deficiency anemia was 17.3% in college boys, 38.1% in college girls and 55.9% in pregnant women, while in the Hb E [β26(B8)Glu→Lys; HBB: c.79G>A] carriers, it was 7.3% in college boys, 25.4% in college girls and 78.0% in antenatal women. In individuals with Hb E disease, the prevalence of iron deficiency anemia varied from 31.2-77.3% in the three groups. A significant reduction in Hb levels was seen when iron deficiency anemia was associated with hemoglobinopathies. However, the Hb A2 levels in β-thal carriers were not greatly reduced in the presence of iron deficiency anemia. © 2014 Informa Healthcare USA, Inc. All rights reserved: reproduction in whole or part not permitted.

Upadhye D.S.,National Institute of Immunohaematology Indian Council of Medical Research | Jain D.L.,Government Medical College | Trivedi Y.L.,Government Medical College | Nadkarni A.H.,National Institute of Immunohaematology Indian Council of Medical Research | And 2 more authors.
Clinical Chemistry and Laboratory Medicine | Year: 2014

Background: Sickle cell disease is a major health burden in India. The aim of the study was to compare the diagnostic utility of two different approaches on automated high performance liquid chromatography (HPLC) for newborn screening for sickle cell disorders and other haemoglobinopathies in India. Methods: Newborn babies of sickle heterozygous mothers were tested by HPLC using two different kits, the β-thal short kit, which is routinely used for screening for haemoglobinopathies in most laboratories, and the sickle cell short kit which is specific only for neonatal samples. Confirmation of the sickle and α genotypes was done by molecular analysis. Results: Of the 601 babies tested, 276 were normal, 284 were sickle heterozygous and 41 were sickle homozygous using the β-thal short kit. Using the sickle cell short kit, a discrepancy was seen in one newborn sample where a normal baby was identified as a sickle heterozygous baby. α-Genotyping was done in 42 babies and 16 of them had α gene deletions. The presence of α thalassaemia could be suspected in 15 of these 16 babies based on a spike at the start of the chromatogram using the β-thal short kit. In comparison, using the sickle cell short kit the diagnosis of α thalassaemia was difficult based on the percentage of the FAST peak. Further, other rare α chain Hb variants were also missed. Conclusions: The β-thal short kit was more versatile than the sickle cell short kit for screening for haemoglobinopathies in newborns in our population. © by De Gruyter 2014.

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