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Dipika Mohanty

Publications and source records attributed to Dipika Mohanty.

At least 19 recordsLinked to original sources
PubMed2006

Red cell pyruvate kinase deficiency in neonatal jaundice cases in India.

OBJECTIVE: Pyruvate Kinase (PK) deficiency is the most common enzymopathy of the glycolytic pathway in erythrocytes. It constitutes one of the common causes of hereditary non-spherocytic hemolytic anemia. The aim of this study was to screen newborns in India for pyruvate kinase (PK) deficiency in relation to unconjugated hyperbilirubinemia. METHODS: Laboratory investigations done included complete blood counts, reticulocyte counts, direct and indirect bilirubin, assay of G6PD and PK activity, ATP and 2,3 DPG levels. All variables were studied in 50-cord blood samples from normal deliveries and 218 neonates with hyperbilirubinemia. RESULTS: 7 of the 218 cases of neonatal jaundice were PK deficient with 30-40% reduction in PK activity. These cases also had a 3-4-fold increase in 2,3 DPG:ATP ratios, which is one of the additional indicators for PK deficiency. Six of the 7 infants had a severe clinical course. CONCLUSION: This study shows that the prevalence of PK deficiency in Indian neonatal jaundice cases is 3.21%, which is relatively high. This emphasizes the need for screening neonatal hyperbilirubinemia cases in India for PK deficiency.

Erythrocytes↗
PubMed2006

Use of a new enzyme-linked immunosorbent assay for the detection of type 2N von Willebrand disease and its prevalence in an Indian population.

von Willebrand disease (VWD) is caused by qualitative or quantitative defects, or both, of the von Willebrand factor, a multimeric, high-molecular-weight glycoprotein. Type 2N VWD differs from other subtypes in that it shows normal primary haemostasis as all the routine tests performed for the diagnosis of VWD are normal. They present with defective coagulation, due to a moderate or severe deficiency of factor VIII, and consequently often they are misdiagnosed as either mild haemophilia A or type 1 VWD. Thus the actual prevalence of this subtype is not known in many of the populations. The differential diagnosis of this subtype is mainly based on the in-vitro capacity of plasma von Willebrand factor to bind exogenous factor VIII by immunoassay. However, most of the routine laboratories in developing countries do not have the testing facilities for type 2N VWD, mainly because of the cost of the reagents involved and the complexity of various assays reported. We report here the prevalence of type 2N VWD in an Indian population by developing a simple, not too expensive, user-friendly enzyme-linked immunosorbent assay technique and compared it with the reported technique of the factor VIII binding assay. Nine out of 97 VWD patients (10%) were found to be type 2N VWD using both the reported assay and the in-house ELISA; thus indicating that the prevalence of type 2N VWD is high in our population. The simple ELISA technique described here should be available in all routine laboratories in developing countries.

Adolescent↗
PubMed2006

Von Willebrand factor 1 and factor 2 alleles (intron 40) are suitable markers for carrier detection in von Willebrand disease families in the Indian population.

The efficacy of the two von Willebrand factor (vWF) intron 40 variable number of tandem repeat (VNTR) markers, vWF1 and vWF2, in the genetic diagnosis of von Willebrand disease (vWD) in Indian patients was studied. Three hundred and sixty-five unrelated normal individuals and 100 vWD patients (type 1: 18; type 2: 21; type 3: 61) were analyzed for the two vWF intron 40 VNTR markers. Polymerase chain reaction of the two markers vWF1 and vWF2 was done using specific primers followed by electrophoresis on 10% polyacrylamide gel. VNTR analysis revealed the presence of VNTR9 and VNTR15 along with the eight alleles VNTR6 to VNTR14 in the vWF1 marker. Furthermore, apart from the six alleles, VNTR1 to VNTR6 of the vWF2 marker, two new alleles, VNTR7 and VNTR8, were also found. The heterozygosity rates were 75 and 74% for vWF1 and vWF2, respectively. Overall, the heterozygosity rate, i.e. when both vWF1 and vWF2 were considered in combination, was 81%. These data were successfully applied for the detection of carriers in 10 severe type 3 vWD families. The high heterozygosity of the two vWF intron 40 VNTR markers and the simplicity of the technique without much cost being involved suggest the practical feasibility of this technique in developing countries like India.

Alleles↗
PubMed2005

Congenital methemoglobinemia caused by Hb-MRatnagiri (beta-63CAT-->TAT, His-->Tyr) in an Indian family.

Hb-M is a very rare hemoglobinopathy in the Indian subcontinent. We report a family with Hb-M with lifelong cyanosis from the Ratnagiri district in western India. The propositus was a 11-year-old female child with a history of increasing cyanosis exacerbated by fever and weakness. Similar complaints were also noted in her mother and five maternal family members. There was no history of cardiac illness or exposure to drugs and chemicals. The methemoglobin level was 39.3% in the propositus and 21.1% in her mother with normal NADH-methemoglobin reductase activity. Abnormal absorption peaks by spectroscopic analysis, presence of hemoglobin instability, and a slow-moving band on starch gel electrophoresis supported the presence of Hb-M. Automated DNA sequence analysis of the beta globin gene showed a C-->T substitution at codon 63. This leads to a substitution of histidine (CAT) by tyrosine (TAT) at the beta 63 (E7) position, similar to Hb-M Saskatoon. We have named this variant as Hb-M(Ratnagiri).

Amino Acid Substitution↗
PubMed2005

Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII.

Combined deficiency of factors V (FV) and factor VIII (FVIII) (F5F8D) is an autosomal recessive bleeding disorder caused by simultaneous moderate-to-mild decrease of both clotting proteins. Mutations in two components of the ER-Golgi intermediate compartment (ERGIC-53), i.e., lectin mannose binding protein (LMAN1) and multiple coagulation factor deficiency 2 (MCFD2), have been found to be responsible for this dual deficiency in most of the cases reported in literature. Three Indian families with F5F8D were analyzed for the presence of mutations in their LMAN1 and MCFD2 genes. One of the three families showed the presence of a G to A substitution in exon 2 of the MCFD2 gene, whereas another family showed a nonsense mutation, i.e., G to T substitution, in exon 2 of the LMAN1 gene, the latter being a novel mutation not previously reported. The third family did not show mutations in either of the two genes, suggesting that a significant subset of F5F8D cases may be due to additional genes resulting in a similar phenotype.

Adolescent↗
PubMed2005

Prenatal diagnosis of sickle syndromes in India: dilemmas in counselling.

OBJECTIVES: The sickle gene is prevalent in the scheduled caste and tribal populations in India. The clinical presentation of sickle cell disease is extremely variable, and there are no neonatal screening programmes. This is the first report on prenatal diagnosis of sickle syndromes in 85 couples at risk (sickle cell anemia-69; sickle thalassemia-16) from different regions in India. Most of the couples were from a low socioeconomic group and their decisions were entirely dependent on the local counselling given. We have evaluated the acceptability of prenatal diagnosis and the dilemmas faced in counselling these families. METHODS: Chorion villus sampling was done in the first trimester and DNA analysis using reverse dot blot hybridization or restriction enzyme digestion with Dde1 in 65 cases. Cordocentesis was done in the second trimester and fetal blood analyses by automated HPLC in 20 cases who came late. RESULTS: 32.9% of couples came prospectively for diagnosis. 23.5% of fetuses were affected (sickle cell anemia-18, sickle thalassemia-2). The beta-thalassemia mutation in both cases was IVS 1-5(G->C). All the couples with an unfavourable diagnosis opted for termination of pregnancy. CONCLUSION: Sickle cell anemia has a relatively benign clinical course in some tribal groups in India. This raises a dilemma whether we are justified in advising prenatal diagnosis in all such cases.

Anemia, Sickle Cell↗
PubMed2005

Prevalence and spectrum of von Willebrand disease from western India.

BACKGROUND AND OBJECTIVE: von Willebrand disease (VWD) is one of the most common inherited bleeding disorders in the west. Limited studies from India showed a prevalence of approximately 10 per cent of VWD among the cases with hereditary bleeding disorders. VWD remains an underdiagnosed entity in India. The prevalence of different subtypes of VWD is also not known which is essential for a proper management of these cases. The present study was thus undertaken to know the prevalence of VWD and its various subtypes in the western part of our country. METHODS: A total of 796 consecutive patients presented with various bleeding manifestations were analysed. The initial screening and confirmation tests for the diagnosis of VWD included bleeding time (BT), screening coagulation tests i.e., prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT), factor VIII: C assay, ristocetin-induced platelet aggregation (RIPA) and VWF antigen (VWF:Ag) estimations. VWF multimer analysis, ristocetin cofactor activity (RCOF), VWF collagen binding assay (VWF: CBA), factor VIII : VWF binding assay were also done to classify and subtype these cases. RESULTS: The patients were subtyped as per the International Society of Thrombosis and Haemostasis (ISTH) criteria. Of the 796 patients screened, 58 were diagnosed as VWD. Of the 15 families with a positive family history of bleeding, 26 additional cases were diagnosed as VWD. Majority of the patients were type 3 (59.5%) with severe clinical manifestations, about 18 per cent of type 1 VWD patients were detected in this group while the prevalence of the qualitative variants of VWD i.e., type 2 VWD was found to be 19 per cent and the prevalence of various subtypes were type 2A (9.52%), type 2B (4.76%), type 2M (1.2%), type 2N (3.6%). INTERPRETATION AND CONCLUSION: The high prevalence of type 3 and a low prevalence of type 1 VWD which is in contrast to the western reports, suggests the low awareness of the disease as also the underdiagnosis of the mild cases in our country.

Adult↗
PubMed2004

The spectrum of bleeding disorders in women with menorrhagia: a report from Western India.

In order to evaluate the incidence of hereditary bleeding disorders in patients presenting with menorrhagia, where the usual gynecological and endocrinal causes of bleeding were ruled out by various local ultrasonography (USG) and relevant endocrine investigations, 120 women aged between 18 and 35 years presenting with menorrhagia without any discernable cause were studied using an open design, where the investigators knew that these patients had menorrhagia. These patients were investigated for inherited coagulation defects. Of the 120 women investigated, 19.16% (23 cases) had an inherited coagulation disorder to account for their menorrhagia. Although a majority (11.6%) are patients with von Willebrand's disease (VWD), other rare platelet disorders such as Glanzmann's thrombasthenia (3.3%), Bernard-Soulier syndrome (0.83%), coagulation factor deficiencies such as factor VIII (0.83%), factor X (0.83%), and factor XI (0.83%), and immune thrombocytopenia (0.83%) were also found. Taking a detailed history for bleeding from other sites however minor, paternal consanguinity as well as family history of bleeding tendencies appeared as a very strong predictor for such kinds of disease in patients with menorrhagia. Patients with menorrhagia without a discernable cause, therefore, need evaluation for the congenital coagulation disorders.

Adolescent↗
PubMed2004

Glucose-6-phosphate dehydrogenase deficiency in India.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest red cell enzymopathy in humans and has an X-linked inheritance. It has been reported from India more than 30 years ago and the prevalence varies from 0-27% in different caste, ethnic and linguistic groups. The major clinical manifestations are drug induced hemolytic anemia, neonatal jaundice and chronic non-spherocytic hemolytic anemia. Individuals with G6PD deficiency have a selective advantage against falciparum malaria. Thirteen biochemically characterized variants have been reported from India. At the molecular level, G6PD Mediterranean is the most common deficient variant in the caste groups whereas, G6PD Orissa is more prevalent among the tribal of India. The third common variant seen in India is G6PD Kerala-Kalyan.

Anemia, Hemolytic↗
PubMed2004

Detection of rare beta-thalassemia mutations by denaturing gradient gel electrophoresis among Indians.

We report four rare beta-thalassemia (thal) mutations, viz. AATAAA --> AACAAA [polyadenylation (poly A) site mutation]. IVS-II-745 (C --> G), codon 121 (G --> T) and IVS-II-1 (G --> A), detected by denaturing gradient gel electrophoresis (DGGE) among Indians. Of these, the poly A site mutation has been found in combination with deletional delta(beta)-thal in one case, and with the IVS-1-5 (G --> C) mutation in another. Two DGGE patterns, corresponding to the same IVS-II-1 (G --> A) mutation, were seen in one family. Framework (FW) analyses in family studies have shown that the poly A site mutation is associated with FW-1, while both the codon 121 (G --> T) and IVS-II-1 (G --> A) mutations are associated with FW-2. Denaturing gradient gel electrophoresis facilitates the screening of rare beta-thal mutations in the diverse Indian population with its many ethnic groups, covering a vast geographic territory.

Adult↗
PubMed2004

Beta-globin gene cluster haplotypes linked to the betaS gene in western India.

The present survey, which involves 70 sickle cell anemia patients from Gujarat and Maharashtra revealed a high prevalence of the typical Arab-Indian haplotype (91.5 %). Six atypical haplotypes, including a Cameroon one were also found. Correlation of these various haplotypes with HbF expression was studied.

Anemia, Sickle Cell↗
PubMed2004

Prenatal diagnosis in a family at risk for beta-thalassemia and hemophilia A: an uncommon association.

beta-Thalassemia (thal) is an autosomal recessive disorder with a prevalence of 2-3% in Indians, while hemophilia A is X-linked with a prevalence of 1 in 5,000-10,000 male births. The chances of both these disorders being present together is extremely rare (1 in 250,000). We report an interesting consanguineous family from Western India with a combination of these two disorders, which was referred to us for prenatal diagnosis.

Family↗
PubMed2004

Combination of thrombophilia markers in acute myocardial infarction of the young.

BACKGROUND: The pathogenesis of arterial thrombotic disease involves multiple genetic and environmental factors related to atherosclerosis and thrombosis. But, there have been very few studies in India which have investigated some of the thrombophilia markers. AIM: To look for combined thrombophilia in MI patients. SETTINGS AND DESIGN: One hundred twenty patients of myocardial infarction (age below 40 yrs.) were recruited 8-10 weeks after stabilization. Hundred age and sex-matched healthy controls were also recruited in the present study. METHODS AND MATERIAL: Following thrombophilia markers were screened in these patients--plasma fibrinogen, protein C, protein S, antithrombin III, factor V Leiden, PT G20210A polymorphism, MTHFR C677T, homocysteine, fibrinogen b448 Arg/Lys polymorphism and CBS T833C mutation. STATISTICAL ANALYSIS: Statistical analysis was done using Statistical Package for Social Sciences (SPSS) version 10.0, SPSS Inc., Chicago, USA. RESULTS AND CONCLUSION: Elevated fibrinogen levels, homocysteine (p< 0.001 and homocysteine with odds ratio 6.26) and factor V Leiden (p=0.038) were independently associated with MI in our patients. A total of 37 patients (42.5%) had the presence of more than one thrombophilia markers in combination. Out of these, 10 had the presence of three markers in combination and 1 had five thrombophilia markers in combination. Only 2 controls had prothrombotic markers in combination. Combined prothrombotic risk factors were significant in cases in comparison to controls (p< 0.001). Further larger studies on a nationwide basis recruiting a large number of young MI patients should be done to substantiate these findings.

Adult↗