Browsing by Author "Colah, Roshan"
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Item Comparison of in-vitro and in-vivo response to fetal hemoglobin production and γ-mRNA expression by hydroxyurea in Hemoglobinopathies.(2013-04) Italia, Khushnooma; Jijina, Farah; Merchant, Rashid; Swaminathan, Suchitra; Nadkarni, Anita; Gupta, Maya; Ghosh, Kanjaksha; Colah, RoshanBACKGROUND: Hydroxyurea, which induces Fetal hemoglobin (HbF) synthesis, is the only drug widely used in different hemoglobinopathies; however, the response is very variable. We compared the efficacy of hydroxyurea in-vitro in erythroid cultures and in-vivo in the same patients with different hemoglobinopathies to induce HbF production and enhance γ-messenger RNA expression. MATERIALS AND METHODS: A total of 24-patients with different Hemoglobinopathies were given hydroxyurea and their response was studied in-vivo and in-vitro on mononuclear cells collected from them simultaneously. RESULTS: A total of 57.7% of patients (responders) showed no further crisis or transfusion requirements after hydroxyurea therapy with a mean increase in fetal cells (F-cells) of 63.8 ± 59.1% and γ-mRNA expression of 205.5 ± 120.8%. In-vitro results also showed a mean increase in F-cells of 27.2 ± 24.7% and γ-mRNA expression of 119.6% ± 65.4% among the treated cells. Nearly 19.0% of the partial-responders reduced their transfusion requirements by 50% with a mean increase in F-cells of 61.2 ± 25.0% and 28.4 ± 25.3% and γ-mRNA-expression of 21.0% ± 1.4% and 80.0% ± 14.1% in-vivo and in-vitro respectively. The non-responders (15.3%) showed no change in their clinical status and there was no significant increase in F-cells levels and γ-mRNA expression in-vivo or in-vitro. CONCLUSION: Thus, this method may help to predict the in-vivo response to hydroxyurea therapy; however, a much larger study is required.Item Efficacy of Fixed Low Dose Hydroxyurea in Indian Children with Sickle Cell Anemia: A Single Centre Experience.(2013-10) Jain, Dipti L; Apte, Mohini; Colah, Roshan; Sarathi, Vijaya; Desai, Saumil; Gokhale, Amruta; Bhandarwar, Amol; Jain, Harshwardhan L; Ghosh, KanjakshaIntroduction: Data on the efficacy of hydroxyurea (HU) in Indian children with sickle cell anaemia (SCA) is limited. Hence, we have evaluated the efficacy of fixed low dose HU in Indian children. Methods: The study cohort consisted of 144 children (<18 years of age) with SCA having severe manifestations (≥3 episodes of vasocclusive crisis or blood transfusions, or having ≥1 episode of acute chest syndrome or cerebrovascular stroke or sequestration crisis) who were started on fixed low dose HU (10 mg/kg/day). They were followed up for two years and monitored for the hematological and clinical efficacy and safety. Results: There was significant increase in the fetal hemoglobin level (HbF%), total hemoglobin and mean corpuscular volume. Vasoocclusive crises, blood transfusions, acute chest syndrome, sequestration crises and hospitalizations decreased significantly. Baseline HbF% had significant positive correlation with HbF% at 24 months. There was significant negative correlation between baseline HbF% and change in HbF% from baseline to 24 months. No significant correlation was found between HbF% at baseline and clinical event rates per year after HU. No major adverse events occurred during the study period. Conclusion: Fixed low dose HU is effective and safe in Indian children with SCA.Item Frequency of β-thalassemia trait and other hemoglobinopathies in northern and western India.(2010-01) Madan, Nishi; Sharma, Satendra; Sood, S K; Colah, Roshan; Bhatia, H M; ChildINTRODUCTION: 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 βTT 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 βTT 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 βTT 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 βTT 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 βTT 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 βTT was 4.05% and reinforces the differential frequency of β-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.Item Guidelines for screening, diagnosis and management of hemoglobinopathies.(2014-04) Ghosh, Kanjaksha; Colah, Roshan; Manglani, Mamta; Choudhry, Ved Prakash; Verma, Ishwar; Madan, Nishi; Saxena, Renu; Jain, Dipty; Marwaha, Neelam; Das, Reena; Mohanty, Dipika; Choudhary, Rajendra; Agarwal, Sarita; Ghosh, Malay; Ross, CecilThe b‑thalassemias and sickle cell disorders are a major health burden in India. Diagnosis and management of these disorders both in adults and in newborns using appropriate approaches and uniform technology are important in different regions of a vast and diverse country as India. In view of a National Thalassemia Control Program to be launched soon, a need was felt for guidelines on whom to screen, cost‑effective technologies that are to be used as well as for establishing prenatal diagnosis programs in regional centers. Newborn screening for sickle cell disorders is in its infancy in India and uniform approaches need to be followed. Also, included are guidelines for monitoring and managing patients who are now growing older and need comprehensive care as well as management of complications of the disease.Item Hemoglobin Agenogi ‑ A rare abnormal beta globin chain variant.(2016-01) Sharma, Sunita; Sharma, Geetika; Chandra, Jagdish; Colah, RoshanHaemoglobin (Hb) Agenogi is clinically asymptomatic, rare β‑globin chain variant characterized by a substitution of glutamic acid by lysine at position 90 of β‑chain. It elutes in the C‑window on high‑performance liquid chromatography (HPLC). We report a 10‑year‑old male with easy fatigability, lethargy, pallor, and mild splenomegaly. Hematological parameters revealed microcytic hypochromic anemia and mildly raised red blood cells count, suggestive of thalassemia trait. On HPLC, a predominant peak was observed in the C‑window (82.6%) along with raised HbA2 level (9.3%). Based on these findings, a possibility of HbC disease/β‑thalassemia trait doubly heterozygous was considered. Family studies were advised. HPLC findings in father were suggestive of β‑thalassemia trait, while both his mother and brother had an abnormal peak in the C‑window of 42.7% and 40.8%, respectively, with elevated HbA2 values of 5% and 4.9%, respectively. Direct DNA sequencing revealed intervening sequences 1–5 (G → C) in father, confirming β‑thalassemia trait. His mother and brother had heterozygous gene mutation at codon 90 of β‑globin chain (G → A) suggestive of Hb Agenogi. The child carried mutations for both β‑thalassemia trait as well as Hb Agenogi.Item Sickle Cell Anemia from Central India: A Retrospective Analysis.(2012-11) Jain, Dipty; Italia, Khushnooma; Sarathi, Vijaya; Ghoshand, Kanjaksha; Colah, RoshanAlthough sickle cell anemia in India is believed to have a mild clinical presentation, few studies report severe disease in many patients from central India. Hence, we have retrospectively studied 316 children with SCA who were followed up for a period of 5.8±5.7 years. There were 55.4 blood transfusions, 43.3 episodes of vaso-occlusive crises requiring hospitalization, and 108.9 hospitalizations per 100 person years. Ninety six (30%) patients had severe disease whereas 74 patients also fulfilled the criteria for hydroxyurea therapy. Significant proportion of children with sickle cell anemia from central India present with severe clinical presentation and require regular medical attention.