Erythrocyte Indices MCV and/or MCH as First Round Screening Followed by Hb-analysis for β-thalassemia Carrier State
BACKGROUND: Being located in the global thalassemia belt area, Indonesia is estimated harboring about 10% thalassemia carriers; however, screening program is still diversely scattered across the country. Numerous erythrocyte indices have been introduced to help identifying thalassemia carriers with...
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| Format: | Article |
| Language: | English |
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Secretariat of The Indonesian Biomedical Journal
2022-09-01
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| Series: | Indonesian Biomedical Journal |
| Online Access: | https://inabj.org/index.php/ibj/article/view/1960 |
| _version_ | 1811211100489777152 |
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| author | Edhyana Sahiratmadja Ani Melani Maskoen Lelani Reniarti Delita Prihatni |
| author_facet | Edhyana Sahiratmadja Ani Melani Maskoen Lelani Reniarti Delita Prihatni |
| author_sort | Edhyana Sahiratmadja |
| collection | DOAJ |
| description | BACKGROUND: Being located in the global thalassemia belt area, Indonesia is estimated harboring about 10% thalassemia carriers; however, screening program is still diversely scattered across the country. Numerous erythrocyte indices have been introduced to help identifying thalassemia carriers with contradictory results. Therefore, this study had compared the use of mean corpuscular volume (MCV) and/or mean corpuscular hemoglobin (MCH) values and the most erythrocyte indices used in Indonesia which were Mentzer Index (MI) and Shine & Lal Index (SLI), as a first attempt in a mass screening for β-thalassemia carrier.
METHODS: This was a retrospective study, evaluating laboratory data from family members of thalassemia major subjects. The sensitivity and specificity of MI and SLI were calculated. HbA2 >3.5% was used as a golden standard for β-thalassemia carrier and DNA examination was conducted to confirm β-globin mutation.
RESULTS: Out of 160, 28.8% of the subjects had low Hb concentration. Interestingly, 79.4% of the subjects had low MCV and/or MCH with or without low Hb concentration. In this study, specificity and sensitivity of MI were 82.2% and 83.8%, whereas of SLI were 96% and 40.5%, respectively. Low MCV and/or MCH had covered IVS1nt5 and Cd26 mutation at β-globin gene; whereas MI and SLI had missed some samples, leading to false negative of thalassemia carrier results, when using MI or SLI only.
CONCLUSION: MCV<80 fl and/or MCH<27 pg is the best first round mass screening method for β-thalassemia carrier in a limited facility area. However, Hb electrophoresis should be gradually installed regionally in various places wherever possible, as well as DNA analysis to confirm the mutation for an optimal carrier diagnosis.
KEYWORDS: HbA2, HbE, iron deficiency anemia, Mentzer Index, Shine and Lal Index |
| first_indexed | 2024-04-12T05:06:56Z |
| format | Article |
| id | doaj.art-67af7194614c4ab2ab271ac906d1194c |
| institution | Directory Open Access Journal |
| issn | 2085-3297 2355-9179 |
| language | English |
| last_indexed | 2024-04-12T05:06:56Z |
| publishDate | 2022-09-01 |
| publisher | Secretariat of The Indonesian Biomedical Journal |
| record_format | Article |
| series | Indonesian Biomedical Journal |
| spelling | doaj.art-67af7194614c4ab2ab271ac906d1194c2022-12-22T03:46:51ZengSecretariat of The Indonesian Biomedical JournalIndonesian Biomedical Journal2085-32972355-91792022-09-01143282810.18585/inabj.v14i3.1960471Erythrocyte Indices MCV and/or MCH as First Round Screening Followed by Hb-analysis for β-thalassemia Carrier StateEdhyana Sahiratmadja0Ani Melani Maskoen1Lelani Reniarti2Delita Prihatni3Department of Biomedical Sciences, Faculty of Medicine, Universitas Padjadjaran, Jl. Raya Bandung-Sumedang Km 21, Jatinangor 45363Department of Oral Biology, Faculty of Dentistry, Universitas Padjadjaran, Jl. Raya Bandung-Sumedang Km 21, Jatinangor 45363Department of Pediatrics, Dr. Hasan Sadikin General Hospital/Faculty of Medicine, Universitas Padjadjaran, Jl. Pasteur No.38, Bandung 40161Department of Clinical Pathology, Dr. Hasan Sadikin General Hospital / Faculty of Medicine, Universitas Padjadjaran, Jl. Pasteur No.38, Bandung 40161BACKGROUND: Being located in the global thalassemia belt area, Indonesia is estimated harboring about 10% thalassemia carriers; however, screening program is still diversely scattered across the country. Numerous erythrocyte indices have been introduced to help identifying thalassemia carriers with contradictory results. Therefore, this study had compared the use of mean corpuscular volume (MCV) and/or mean corpuscular hemoglobin (MCH) values and the most erythrocyte indices used in Indonesia which were Mentzer Index (MI) and Shine & Lal Index (SLI), as a first attempt in a mass screening for β-thalassemia carrier. METHODS: This was a retrospective study, evaluating laboratory data from family members of thalassemia major subjects. The sensitivity and specificity of MI and SLI were calculated. HbA2 >3.5% was used as a golden standard for β-thalassemia carrier and DNA examination was conducted to confirm β-globin mutation. RESULTS: Out of 160, 28.8% of the subjects had low Hb concentration. Interestingly, 79.4% of the subjects had low MCV and/or MCH with or without low Hb concentration. In this study, specificity and sensitivity of MI were 82.2% and 83.8%, whereas of SLI were 96% and 40.5%, respectively. Low MCV and/or MCH had covered IVS1nt5 and Cd26 mutation at β-globin gene; whereas MI and SLI had missed some samples, leading to false negative of thalassemia carrier results, when using MI or SLI only. CONCLUSION: MCV<80 fl and/or MCH<27 pg is the best first round mass screening method for β-thalassemia carrier in a limited facility area. However, Hb electrophoresis should be gradually installed regionally in various places wherever possible, as well as DNA analysis to confirm the mutation for an optimal carrier diagnosis. KEYWORDS: HbA2, HbE, iron deficiency anemia, Mentzer Index, Shine and Lal Indexhttps://inabj.org/index.php/ibj/article/view/1960 |
| spellingShingle | Edhyana Sahiratmadja Ani Melani Maskoen Lelani Reniarti Delita Prihatni Erythrocyte Indices MCV and/or MCH as First Round Screening Followed by Hb-analysis for β-thalassemia Carrier State Indonesian Biomedical Journal |
| title | Erythrocyte Indices MCV and/or MCH as First Round Screening Followed by Hb-analysis for β-thalassemia Carrier State |
| title_full | Erythrocyte Indices MCV and/or MCH as First Round Screening Followed by Hb-analysis for β-thalassemia Carrier State |
| title_fullStr | Erythrocyte Indices MCV and/or MCH as First Round Screening Followed by Hb-analysis for β-thalassemia Carrier State |
| title_full_unstemmed | Erythrocyte Indices MCV and/or MCH as First Round Screening Followed by Hb-analysis for β-thalassemia Carrier State |
| title_short | Erythrocyte Indices MCV and/or MCH as First Round Screening Followed by Hb-analysis for β-thalassemia Carrier State |
| title_sort | erythrocyte indices mcv and or mch as first round screening followed by hb analysis for β thalassemia carrier state |
| url | https://inabj.org/index.php/ibj/article/view/1960 |
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