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Background: Mild microcytic hypochromic anaemias due to iron deficiency (IDA) and beta thalassemia trait(β-TT) continue to be a cause of significant burden to the society, particularly in the poorer developing countries. The objective of the present study was to study the RBC based indices in patients of marked anisopoikilocytosis in determining the etiology of it, to standardize few automated red cell parameters, and also objective grading of RBC morphology on peripheral smear and interpreting its utility in indicating a diagnosis. Also, to establish a relation between value of RBC indices with that of degree of anisocytosis.Methods: A total of 500 patients diagnosed with mild microcytic hypochromic anaemia on complete blood count and peripheral blood film were included in the study. Hb, RBC count, MCV, MCH and RDW obtained from the electronic cell counter were used to calculate discrimination indices by various mathematical formulae. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and Youden’s index (YI) were calculated.Results: Green and King index demonstrated the lowest sensitivity of 70.51%. Mentzer index demonstrated the highest specificity of 96.80%. The highest and lowest PPV were found for Mentzer index (97.09%) and Sehgal index (92.81%) respectively. Sehgal’s index demonstrated the highest NPV of 95.96% and lowest NPV was exhibited by G and K (87.9%). The highest and the lowest values for Youden’s index were shown by Sehgal’s index (87.82%) and G and K index (68.47%).Conclusions: Sehgal’s index followed by Mentzer index are highly sensitive and reasonably specific in differentiating β-TT from IDA and none of the indices is 100% sensitive and specific. Though HbA2 estimation is the gold standard for diagnosing β-TT, in developing countries, Sehgal index followed by Mentzer et al, index can be used to screen mild microcytic hypochromic anaemia cases to eliminate as many false positive cases as possible to reduce the financial cost.
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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.
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Background: The heterozygous state of Beta-Thalassemia i.e. Beta-Thalassemia Trait (BTT) is usually not associated with any clinical symptoms and possesses abnormality in only a single BetaGlobin gene. Materials and methods: The present study was undertaken from October 2015 to October 2017 in the Department of Pathology of Mahatma Gandhi Medical College and Hospital. In our study, a total of 100 subjects were included with mild or no anemia (Hemoglobin >8 gm/dl) who were referred to the central lab for hemoglobin screening. Hb A2 values were determined by Capillary Hemoglobin electrophoresis for all 48 (BTT) and 52 (Normal/non BTT) subjects. The complete hemogram was done by automated hematology analyzer. The values of red cell indices TRBC, MCV and MCH and six discriminative indices were evaluated for detection of β-thalassemia trait. The results were compiled in tabular form and bar diagram. Results: In the present study, the patients in the BTT group had statistically significantly decreased mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) and increased TRBC count as compared to those in non BTT group. Among the six discrimination indices used highest sensitivity was found for Shine and Lal index (87.5%) followed by Mentzer index (79.16%). The highest specificity was found for E and F (88.46%) followed by RDWI (84.61%). Youden’s index was highest for Mentzer index (61.85%) followed by RDWI (55.44%). Conclusion: From this study, we thus conclude that although no screening test can diagnose β− Thalassemia Trait with 100% sensitivity or specificity, among the hematological parameters MCV, TRBC and MCH most efficiently discriminates β−Thalassemia Trait from other microcytic, hypochromic anemia. Mentzer index with CBC may be the simple, low cost, rapid and can be reliably Prachi Gupta, BP Nag, Abha Mathur. Evaluation of Red Cell Indices and Discriminant Functions in the Detection of Beta Thalassemia Trait. IAIM, 2019; 6(3): 50-59. Page 51 used as a screening test for thalassemia as a routine. However none of the formulas are 100% sensitive and specific.
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ABSTRACT Background: Oxidative stress may aggravate symptoms of hemolytic anemias such as beta-thalassemia. FoxO3 activation results in resistance to oxidative stress in fibroblasts and neuronal cell cultures. Objective: The purpose of this research was to study FoxO3 gene expression and oxidative status in beta-thalassemia minor individuals. Methods: Sixty-three subjects (42 apparently healthy individuals and 21 with beta-thalassemia minor) were analyzed at the Universidad Nacional de Tucumán, Argentina, between September 2013 and June 2014. A complete blood count, hemoglobin electrophoresis in alkaline pH and hemoglobin A2 levels were quantified. Moreover, thiobarbituric acid reactive species, erythrocyte catalase activity and iron status were evaluated. Beta-thalassemia mutations were determined by real-time polymerase chain reaction. FoxO3 gene expression was investigated by real-time reverse transcription-polymerase chain reaction using mononuclear cells from peripheral blood. Results: Subjects were grouped as children (≤12 years), and adult women and men. The analysis of erythrocyte catalase activity/hemoglobin ratio revealed a significant difference (p-value <0.05) between healthy and beta-thalassemia minor adults, but no significant difference was observed in the thiobarbituric acid reactive species levels and FoxO3 gene expression (p-value >0.05). Thiobarbituric acid reactive species and the erythrocyte catalase activity/hemoglobin ratio were not significantly different on comparing the type of beta-thalassemia mutation (β0 or β+) present in carriers. Conclusions: The lack of systemic oxidative imbalance demonstrated by thiobarbituric acid reactive species is correlated to the observation of normal FoxO3 gene expression in mononuclear cells of peripheral blood. However, an imbalanced antioxidant state was shown by the erythrocyte catalase activity/hemoglobin ratio in beta-thalassemia minor carriers. It would be necessary to study FoxO3 gene expression in reticulocytes to elucidate the role of FoxO3 in this pathology.
Subject(s)
Humans , Male , Female , Catalase , Thiobarbituric Acid Reactive Substances , beta-Thalassemia/therapy , Oxidative Stress , Erythrocytes , Forkhead Box Protein O3ABSTRACT
Introduction: Beta thalassemia trait (BTT) must be differentiated from iron defi ciency anemia to avoid unnecessary iron therapy and for the prevention of thalassemia major by genetic counseling. In a tertiary care hospital, it is vital that the screening tool is not only sensitive but also specifi c so as to be cost effective and save time. Aim: The aim of this study was to evaluate the new Sehgal index and compare it to existing complete blood count-based indices for the best combination of sensitivity and specifi city to predict BTT. Materials and Methods: Study was done in 2 phases - Phase 1: A retrospective analysis of 1022 consecutive high-performance liquid chromatography (HPLC) cases from July 2008 to June 2011. Phase 2: A prospective analysis of 973 consecutive HPLC cases from July 1, 2011 to June 10, 2013 was done to confi rm the results of Phase 1 and the applicability of the new Sehgal index. Results: Prevalence of BTT was 28.8% (294/1022) and 25.39% (247/973) in Phase 1 and Phase 2, respectively. Receiver operating characteristic-area under the curve and Youden index was highest for new Sehgal index, followed by Mentzers index <14. The prospective study shows results similar to those in Phase 1 confi rming the superiority of the above two indices. Conclusion: Sehgal index and Mentzers index <14 showed the best combination of sensitivity and specifi city in predicting BTT. The best indices or combination can be used as a “validated fl ag rule” in the analyzer middleware program in a hospital for identifying suspected cases of BTT.
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Variations in the phenotypic expression of heterozygous beta thalassemia reflect the formation of different populations. To better understand the profile of heterozygous beta-thalassemia of the Brazilian population, we aimed at establishing parameters to direct the diagnosis of carriers and calculate the frequency from information stored in an electronic database. Using a Data Mining tool, we evaluated information on 10,960 blood samples deposited in a relational database. Over the years, improved diagnostic technology has facilitated the elucidation of suspected beta thalassemia heterozygote cases with an average frequency of 3.5 percent of referred cases. We also found that the Brazilian beta thalassemia trait has classic increases of Hb A2 and Hb F (60 percent), mainly caused by mutations in beta zero thalassemia, especially in the southeast of the country.