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      Utility of screening tools to differentiate beta thalassemia trait and iron-deficiency anemia - do they serve a purpose in blood donors?

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          Abstract

          Background

          The aim of this study was to estimate the prevalence of the beta thalassemia trait (BTT) and differentiate it from iron-deficiency anemia (IDA) among blood donors.

          Methods

          A total of 1,000 samples from blood donors were subjected to complete hemogram with red blood cell indices. Further, Mentzer index (MI) was calculated for samples with mean corpuscular volume (MCV) below 80 fL and mean corpuscular hemoglobin (MCH) below 27 pg. Samples with Mentzer index <12 were subjected to naked-eye single-tube red cell osmotic fragility test (NESTROFT) followed by hemoglobin electrophoresis in positive cases. Serum ferritin was assessed in NESTROFT-negative cases.

          Results

          The prevalence of BTT among blood donors was 3.7% and that of microcytosis among donors was 8.6%. The prevalence of BTT among microcytic donors was 41.8% while that among those with IDA was 11.6%. A value of MI <13 was highly sensitive in the diagnosis of BTT. MI >13 was found to have both high specificity and high sensitivity for diagnosing IDA.

          Conclusion

          A moderately high prevalence of BTT was observed among blood donors. Presently, no screening program is mandatory for screening of BTT among blood donors. Indices like MCV, MCH, and Mentzer Index were thus found to be effective to screen for BTT and IDA among blood donors, and NESTROFT was a cost-effective mass screening method to differentiate BTT and IDA.

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          Prevalence of β-thalassemia and other haemoglobinopathies in six cities in India: a multicentre study.

          D. Mohanty, R. Colah, A Gorakshakar … (2013)
          The population of India is extremely diverse comprising of more than 3,000 ethnic groups who still follow endogamy. Haemoglobinopathies are the commonest hereditary disorders in India and pose a major health problem. The data on the prevalence of β-thalassemias and other haemoglobinopathies in different caste/ethnic groups of India is scarce. Therefore the present multicentre study was undertaken in six cities of six states of India (Maharashtra, Gujarat, West Bengal, Assam, Karnataka and Punjab) to determine the prevalence of haemoglobinopathies in different caste/ethnic groups using uniform methodology. Fifty-six thousand seven hundred eighty individuals (college students and pregnant women) from different caste/ethnic groups were screened. RBC indices were measured on an automated haematology counter while the percentage of HbA(2), HbF and other abnormal Hb variants were estimated by HPLC on the Variant Hemoglobin Testing System. The overall prevalence of β-thalassemia trait was 2.78 % and varied from 1.48 to 3.64 % in different states, while the prevalence of β-thalassemia trait in 59 ethnic groups varied from 0 to 9.3 %. HbE trait was mainly seen in Dibrugarh in Assam (23.9 %) and Kolkata in West Bengal (3.92 %). In six ethnic groups from Assam, the prevalence of HbE trait varied from 41.1 to 66.7 %. Few subjects with δβ-thalassemia, HPFH, HbS trait, HbD trait, HbE homozygous and HbE β-thalassemia as well as HbS homozygous and HbS-β-thalassemia (<1 %) were also identified. This is the first large multicentre study covering cities from different regions of the country for screening for β-thalassemia carriers and other haemoglobinopathies where uniform protocols and methodology was followed and quality control ensured by the co-ordinating centre. This study also shows that establishment of centres for screening for β-thalassemia and other haemoglobinopathies is possible in medical colleges. Creating awareness, screening and counselling can be done at these centres. This experience will help to formulate a national thalassemia control programme in India.
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            The population genetics of the haemoglobinopathies.

            Andrew J Clegg, Harry J. Flint, Rosalie Boyce … (1998)
            The haemoglobinopathies are the commonest single-gene disorders known, almost certainly because of the protection they provide against malaria, as attested by a number of observations. The geographical distributions of malaria and haemoglobinopathies largely overlap, and microepidemiological surveys confirm the close relationship between them. For two of the commonest disorders, haemoglobin S and alpha(+)-thalassaemia, there is also good clinical evidence for protection against malaria morbidity. However, not all the evidence appears to support this view. In some parts of the world malaria and haemoglobinopathies are not, and never have been, coexistent. It is also difficult to explain why the majority of haemoglobinopathies appear to be recent mutations and are regionally specific. Here we argue that these apparent inconsistencies in the malaria hypothesis are the result of processes such as genetic drift and migration and of demographic changes that have occurred during the past 10,000 years. When these factors are taken into account, selection by malaria remains the force responsible for the prevalence of the haemoglobinopathies.
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              Changing patterns of thalassemia worldwide.

              E P Vichinsky (2004)
              Thalassemia is a growing global public health problem with an estimated 900,000 births of clinically significant thalassemia disorders expected to occur in the next 20 years. This growth will occur in disorders previously uncommon in many parts of the world. In particular, hemoglobin (Hb) E-beta-thalassemia and Hb H disease account for much of the projected increases in thalassemia. Worldwide, Hb E-beta-thalassemia is one of the most frequent hemoglobinopathies. The incidence of Hb E approaches 60% of the populations in many regions of Southeast Asia. In coastal regions of North America, its prevalence is rapidly growing. The severity of Hb E-beta-thalassemia ranges from a complete lack of symptoms to transfusion dependence. alpha-Thalassemia diseases, often considered benign, are now recognized to be more severe than originally reported. Hb H, Hb H-Constant Spring (CS), and homozygous alpha-thalassemia affect at least a million people worldwide. California considers Hb H disease a public health problem and has initiated a neonatal screening program for Hb H and particularly Hb H-CS. Homozygous alpha-thalassemia, usually fatal, is also being more commonly detected. Several regions have initiated universal prenatal screening programs to address homozygous alpha-thalassemia. In summary, the prognosis for thalassemia disorders is improving, but prenatal diagnosis and neonatal screenings are needed. Comprehensive services that address language and social barriers as well as access to Hb F-enhancing agents and transfusions are needed.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Blood Res
                Journal ID (iso-abbrev): Blood Res
                Title: Blood research
                Publisher: Korean Society of Hematology; Korean Society of Blood and Marrow Transplantation; Korean Society of Pediatric Hematology-Oncology; Korean Society on Thrombosis and Hemostasis
                ISSN (Print): 2287-979X
                ISSN (Electronic): 2288-0011
                Publication date (Print): 30 September 2020
                Publication date (Electronic): 30 September 2020
                Volume: 55
                Issue: 3
                Pages: 169-174
                Affiliations
                [1 ]Department of Transfusion Medicine, All India Institute of Medical Sciences, New Delhi, India
                [2 ]Department of Transfusion Medicine, Government Medical College and Hospital, Chandigarh, India
                [3 ]Department of Pathology, Government Medical College and Hospital, Chandigarh, India
                Author notes
                Correspondence to, Paramjit Kaur, M.D., Department of Transfusion Medicine, Government Medical College, Sector 32, Chandigarh 160030, India, E-mail: paramjit.gp71@ 123456yahoo.com
                Article
                Publisher ID: BR-55-169
                DOI: 10.5045/br.2020.2020219
                PMC ID: 7536563
                PubMed ID: 32989178
                SO-VID: 46493c90-10bf-4de1-8534-13239e3b17f2
                Copyright © © 2020 Korean Society of Hematology
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 26 August 2020
                Date revision received : 4 September 2020
                Date accepted : 15 September 2020
                Categories
                Subject: Original Article

                Keywords: beta thalassemia trait,blood donors,mentzer index,nestroft,iron deficiency anemia
                Data availability:
                Keywords: beta thalassemia trait, blood donors, mentzer index, nestroft, iron deficiency anemia

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