PubMed Health⌕ Search

Biomedical subjects

A Nadkarni

Publications and source records attributed to A Nadkarni.

8 recordsLinked to original sources
PubMed2005

Three novel polymorphisms in the beta globin gene.

We report on three novel polymorphisms in and around the beta globin gene. Two of them are intronic (IVS2) polymorphisms (IVS 2 nt 200-203 (-CTTT) and IVS2 82-83 (-AG)). The third is a novel G-->C substitution at nt +1707 related to the beta globin cap site. This +1707 G-->C polymorphism was detected in 23.5% of chromosomes among 140 samples from India. It seems to be a novel but common polymorphism among Indians. There was no linkage between these novel polymorphisms and any beta thalassemia mutation.

Adult↗
PubMed2004

An interplay of alleviating mutations in the clinical phenotype of beta-thalassaemia intermedia.

Prediction of a beta-thalassaemia major phenotype from the beta-genotype is generally relatively straightforward. However, despite the ability to accurately define the beta-thalassaemia mutations, prediction of a beta-thalassaemia intermedia phenotype from the genotype sometimes remains problematic and this has important implications in genetic counselling and prenatal diagnosis. We report a 11-year-old Indian male child with a thalassaemia intermedia phenotype. beta-Globin gene analysis of the family showed that he was a compound heterozygote with the -88 (C-->T) beta+-mutation and the IVS1 nt 130 (G-->C) beta0-mutation. Both these mutations are rare among Indians. The propositus was also found to be heterozygous for the XmnI polymorphism and had a normal alpha-genotype. In this family interplay of two alleviating mutations (a milder promoter mutation along with a gene for raised HbF) might have synergistically compensated for lack of globin chains in the patient. Hence, the nature of the beta-genotype as well as the knowledge of the presence or absence of alleviating factors will help the clinician to decide whether early commencement of a regular transfusion regime is necessary.

Child↗
PubMed2001

Molecular pathogenesis and clinical variability of beta-thalassemia syndromes among Indians.

Sixty-four homozygous beta-thalassemia patients comprising 40 patients with beta-thalassemia major and 24 patients with beta-thalassemia intermedia were investigated for the nature of their beta-thalassemia mutations, associated alpha-thalassemia, and XmnI polymorphism in the gamma gene which are known to affect the clinical course of the disease. This study was undertaken to look for the contribution of these associated factors in reducing the clinical severity of homozygous beta-thalassemia from a severe disease to a beta-thalassemia intermedia phenotype. Clinical severity of these patients was assessed by the degree of transfusion dependency and the age at which the patient presented with symptoms. Globin chain synthetic ratio was taken as the biochemical pointer of severity of the disease. Eleven different beta-thalassemia mutations were encountered among 128 beta-thalassemia chromosomes. It was observed that the nature of the beta-thalassemia mutations was not very different between the beta-thalassemia major and beta-thalassemia intermedia groups in our patients, but co-inheritance of one or more alpha-globin gene deletions (-alpha(3.7)) and the presence of the XmnI polymorphism were associated with lesser severity of the disease in Indians.

Adolescent↗
PubMed2000

Characteristics of children and adolescents presenting to accident and emergency departments with deliberate self harm.

OBJECTIVES: The aim of this study was to provide a description of the characteristics of children and adolescents presenting to the accident and emergency (A&E) department with deliberate self harm. METHODS: Descriptive analysis of data collected by reviewing the notes of all children and adolescents aged 16 years and under, presenting during the period of study (1 January to 31 December) with a history of deliberate self harm. RESULTS: A total of 100 children (18 boys, 82 girls) were responsible for 117 episodes of deliberate self harm. Nine repeaters were responsible for 22% of the attendances; 38% had made use of emergency ambulance service and 6% were referred by their general practitioner (GP). Sixty nine per cent were accompanied by immediate family and 21% children presented alone. Seventy four per cent presented within three hours of the attempt and 37% presented between 6 pm and midnight; 77% presented during weekdays and 30% of attempts had occurred during spring. Ninety two per cent had used a pharmaceutical drug. Sixty five per cent had made the attempt at home and 12% in a public place. Twenty five per cent had prior or current contact with the child psychiatric services and a similar proportion had prior or current contact with social services. CONCLUSIONS: Few of the children and adolescents presenting with deliberate self harm to the A&E department have been referred by their GP. They frequently present alone or are accompanied by people who are not family members making assessment and treatment difficult. Many already have other services involved in their care and thus the gathering and dissemination of information can become quite lengthy. The time of presentation is usually out of hours, further complicating this process. A small number of young people present with repeated self harm, who are known to be most vulnerable for completing suicide.

Adolescent↗
PubMed1999

Variable clinical severity of Hb E beta-thalassemia among Indians.

OBJECTIVE: The aim of this preliminary report was to look at the effect of genetic variations in the alpha, beta and gamma globin genes in 7 cases of hemoglobin E/beta-thalassemia with diverse clinical expression of the disease. METHODS: beta-thalassemia mutations were characterized by PCR and dot blot hybridization. G gamma gene polymorphism (Xmnl) was determined by PCR followed by restriction enzyme digestion and polyacrylamide gel electrophoresis. alpha genotyping was done by Southern blot hybridization. RESULTS: Six cases had a severe beta+ mutation [IVS 1 nt 5 (G-->C)] and one case had a beta zero mutation [F/S 41/42 (-CTTT)]. Hence, the beta-thalassemia mutation does not seem to contribute towards the clinical diversity. alpha-genotyping showed a single alpha-gene deletion of the rightward type in three of the five milder cases. The -158 G gamma (C-->T) substitution was present at least in heterozygous state (+/-) in all the milder cases. CONCLUSIONS: Deletional alpha thalassemia and presence of the -158 G gamma (C->T) substitution are the two factors which appear to be more important in decreasing the severity of the disease rather than the nature of the beta thalassemia mutation.

Adolescent↗
PubMed1995

Clinical heterogeneity of silent-gene b-thalassemia among Indians.

This paper describes six Indian families in which silent-gene beta-thalassemia was encountered by us in the past 2 years. This stresses the importance of globin-chain synthesis in the diagnosis of beta-thalassemia. Of these six cases, five were diagnosed retrospectively when they had a homozygous beta-thalassemia offspring. The beta/alpha synthetic ratios ranged from 0.45 to 0.60. Four belong to group-I silent beta-thalassemia and two cases to group II. The severity of thalassemia major in the offspring of these silent carriers cannot be predicted.

Adult↗