46 research outputs found
Experience with NESTROFT for screening for thalassemia trait/ minor: evaluation against CBC and HPLC in a high prevalence region in Saurashtra, Gujarat, India
Background: Hemoglobinopathies pose a significant health burden in India. Prevention programmes can significantly reduce this burden. Although sophisticated methods of screening for β thalassemia trait are available, a cheap and simple method is beneficial for population screening. Although the Naked Eye Single Tube Red Cell Osmotic Fragility Test (NESTROFT) has been evaluated in many studies, sample sizes were small in some and many earlier studies have not done complete blood count (CBC) and High-Performance Liquid Chromatography (HPLC) in all the cases. We evaluate the suitability of NESTROFT for detection of β-thalassemia trait in a high prevalence region in Saurashtra, Gujarat.Methods: Here, 1000 unrelated individuals were studied. NESTROFT, CBC and estimation of HbA2 and HbF or other hemoglobin variants were done by HPLC.Results: Prevalence of β thalassemia trait was 7.8% in this population. NESTROFT showed an overall sensitivity and specificity of 94.87 and 85.38 respectively for the detection of β thalassaemia trait. Using red cell indices (MCH <27 pg and MCV <80 fl), One β thalassemia trait with normal indices would have been missed. Among twelve individuals with other hemoglobinopathies (HbS, HbD, HbE, δβ thalassemia trait or HPFH), seven had a positive NESTROFT while three had normal MCV & MCH values.Conclusions: NESTROFT is a cost-effective sensitive test which does not require any equipment and can be done in remote areas. It remains a useful first line screening test when large populations have to be screened.
Frequency of \u3b2-thalassemia trait and other hemoglobinopathies in northern and western India
Introduction : India is an ethnically diverse country with an
approximate population of 1.2 billion. The frequency of
beta-thalassemia trait (\u3b2TT) 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 \u3b2TT
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 \u3b2TT 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
\u3b2TT 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 \u3b2TT 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 \u3b2TT
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 \u3b2TT 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 \u3b2TT was
4.05% and reinforces the differential frequency of \u3b2-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
Control of thalassemia in India
The β-thalassemias and sickle cell disorders pose a major health burden in the large and diverse Indian population. Education programs for awareness generation are being done by National Institutions, non-governmental organizations and Thalassemia Societies in different states
Effect of inherited red cell defects on growth of Plasmodium falciparum: An in vitro study
Background & objectives: High prevalence of certain polymorphic alleles of erythrocytes in malaria endemic area has been linked to the resistance provided by these alleles against parasitic infestations. Numerous studies undertaken to demonstrate this correlation have generated conflicting results. This study was undertaken to investigate the abilities of various polymorphic erythrocytes to support in vitro growth of Plasmodium falciparum parasites.
Methods: In this study under in vitro condition the ability of P. falciparum parasites to grow was assessed in the erythrocytes obtained from a total of 40 patients with various haemoglobinopathies, such as β-thalassaemia (β-Thal), sickle cell anaemia, erythroenzymopathy-like glucose-6-phosphate dehydrogenase deficiency and membranopathy-like hereditary spherocytosis.
Results: Significantly reduced in vitro invasion and growth of parasites was seen in the cultures containing abnormal erythrocytes than in control cultures containing normal erythrocytes (P< 0.05). The mean per cent parasitaemia comparison was also carried out among the three polymorphic erythrocyte groups, i.e. β-Thal, sickle cell anaemia and enzyme-membranopathies.
Interpretation & conclusions: Erythroenzymopathies and membranopathies were found to provide a more hostile environment for parasites, as the least parasitaemia was observed in these erythrocytes. The present in vitro study showed that P. falciparum did not grow well and did not invade well in erythrocytes obtained from common inherited red cell disorders
Hydroxyurea could be a good clinically relevant iron chelator.
Our previous study showed a reduction in serum ferritin of β-thalassemia patients on hydroxyurea therapy. Here we aimed to evaluate the efficacy of hydroxyurea alone and in combination with most widely used iron chelators like deferiprone and deferasirox for reducing iron from experimentally iron overloaded mice. 70 BALB/c mice received intraperitonial injections of iron-sucrose. The mice were then divided into 8 groups and were orally given hydroxyurea, deferiprone or deferasirox alone and their combinations for 4 months. CBC, serum-ferritin, TBARS, sTfr and hepcidin were evaluated before and after iron overload and subsequently after 4 months of drug therapy. All animals were then killed. Iron staining of the heart and liver tissue was done using Perl's Prussian Blue stain. Dry weight of iron in the heart and liver was determined by atomic absorption spectrometry. Increased serum-ferritin, TBARS, hepcidin and dry weight of iron in the liver and heart showed a significant reduction in groups treated with iron chelators with maximum reduction in the group treated with a combination of deferiprone, deferasirox and hydroxyurea. Thus hydroxyurea proves its role in reducing iron from iron overloaded mice. The iron chelating effect of these drugs can also be increased if given in combination
Burden of thalassemia in India: The road map for control
The thalassemias and structural haemoglobin variants are the commonest monogenic disorders globally. India has a huge burden with an estimated 100,000 patients with a β thalassemia syndrome and around 150,000 patients with sickle cell disease, but few among them are optimally managed, and allogeneic stem cell transplant is unaffordable for the majority of families. A feasible option for control is to promote education and awareness programmes, intensify screening in all the states with micromapping to assess the true burden, and develop adequate facilities for genetic counselling and prenatal diagnosis in public sector Institutions. Government and non-government organizations have been working towards this goal for the last 3 to 4 decades but community control in a vast and diverse country is challenging and a national programme reaching all rural regions where almost 70% of the population resides is yet to begin. Strategies to control thalassemia need to include 1) Educating health professionals, school and college students, pregnant women and the population at large 2) Establishing prenatal diagnosis facilities in different regions of the country 3) Setting up a greater number of Day Care Centres for managing existing thalassemia patients 4) Developing cost-effective facilities for stem cell transplantation across the country. This review explores strategies by which Central and State Governments, NGOs, Parents-Patients Societies and Corporate Houses can work together to successfully reduce the burden of hemoglobinopathies in India. Guidelines for implementation of such a national programme have recently been prepared by the National Health Mission, Ministry of Health and Family Welfare with the help of several experts in the country