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.

No abstract

Background: Hemoglobinopathies pose a significant health burden in the Saurashtra region in western India. Identifying couples at- risk of having a child with a severe hemoglobin disorder prenatally can help in counseling with the option of prenatal diagnosis.Methods: All pregnant carriers of β thalassemia were advised to screen their husbands. If both were carriers, they were counselled to undergo prenatal diagnosis. Prenatal diagnosis was done in 174 couples. Chorionic villus sampling was done at 10 to 12 weeks gestation and the tissue sample was sent to the Genetic laboratory for DNA analysis along with blood samples of the parents. If the couple came after 14 weeks of pregnancy, amniocentesis was done and amniotic fluid was sent for DNA analysis. If the fetus was affected, the option of termination of the pregnancy was given.Results: In 50.5% of couples, the fetus was a carrier of β thalassemia, in 1.7% the fetus had hemoglobin E trait and in 23.0% the fetus was normal.  In 20.6% of couples, the fetus had β Thalassaemia major and after counseling, these couples opted for termination. 1.2% of couples had a fetus which was unaffected but remained in distinguished (normal/thalassemia carrier) while in 0.6% of cases the fetus had sickle-β thalassemia. In 1.2% of cases the result was inconclusive. In 1.2% of cases the results were not available for lack of follow up.Conclusions: Screening antenatal women for identifying carriers and referring couples at-risk for prenatal diagnosis helped in preventing the birth of 36 thalassemia major children.