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Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia
Most α-thalassemia cases are caused by deletions of the structural α-globin genes. The degree of microcytosis and hypochromia has been correlated with the number of affected α-globin genes, suggesting a promising role of hematologic parameters as predictive diagnostic tools. However, cut-off points...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5751308/ https://www.ncbi.nlm.nih.gov/pubmed/29236053 http://dx.doi.org/10.3390/ijms18122707 |
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author | Velasco-Rodríguez, Diego Blas, Carlos Alonso-Domínguez, Juan-Manuel Vega, Gala Soto, Carlos García-Raso, Aránzazu Llamas-Sillero, Pilar |
author_facet | Velasco-Rodríguez, Diego Blas, Carlos Alonso-Domínguez, Juan-Manuel Vega, Gala Soto, Carlos García-Raso, Aránzazu Llamas-Sillero, Pilar |
author_sort | Velasco-Rodríguez, Diego |
collection | PubMed |
description | Most α-thalassemia cases are caused by deletions of the structural α-globin genes. The degree of microcytosis and hypochromia has been correlated with the number of affected α-globin genes, suggesting a promising role of hematologic parameters as predictive diagnostic tools. However, cut-off points for these parameters to discriminate between the different subtypes of α-thalassemia are yet to be clearly defined. Six hematologic parameters (RBC, Hb, MCV, MCH, MCHC and RDW) were evaluated in 129 cases of deletional α-thalassemia (56 heterozygous α(+) thalassemia, 36 homozygous α(+) thalassemia, 29 heterozygous α(0) thalassemia and 8 cases of Hb H disease). A good correlation between the number of deleted alpha genes and MCV (r = −0.672, p < 0.001), MCH (r = −0.788, p < 0.001) and RDW (r = 0.633, p < 0.001) was observed. The presence of an α(0) allele should be discarded in individuals with microcytosis without iron deficiency and normal values of Hb A(2) and Hb F with MCH < 23.40 pg. Furthermore, MCH < 21.90 pg and/or MCV < 70.80 fL are strongly suggestive of the presence of one α(0) allele. Finally, an accurate presumptive diagnosis of Hb H disease can be made if both RDW ≥ 20% and MCH < 19 pg are seen. |
format | Online Article Text |
id | pubmed-5751308 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-57513082018-01-08 Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia Velasco-Rodríguez, Diego Blas, Carlos Alonso-Domínguez, Juan-Manuel Vega, Gala Soto, Carlos García-Raso, Aránzazu Llamas-Sillero, Pilar Int J Mol Sci Article Most α-thalassemia cases are caused by deletions of the structural α-globin genes. The degree of microcytosis and hypochromia has been correlated with the number of affected α-globin genes, suggesting a promising role of hematologic parameters as predictive diagnostic tools. However, cut-off points for these parameters to discriminate between the different subtypes of α-thalassemia are yet to be clearly defined. Six hematologic parameters (RBC, Hb, MCV, MCH, MCHC and RDW) were evaluated in 129 cases of deletional α-thalassemia (56 heterozygous α(+) thalassemia, 36 homozygous α(+) thalassemia, 29 heterozygous α(0) thalassemia and 8 cases of Hb H disease). A good correlation between the number of deleted alpha genes and MCV (r = −0.672, p < 0.001), MCH (r = −0.788, p < 0.001) and RDW (r = 0.633, p < 0.001) was observed. The presence of an α(0) allele should be discarded in individuals with microcytosis without iron deficiency and normal values of Hb A(2) and Hb F with MCH < 23.40 pg. Furthermore, MCH < 21.90 pg and/or MCV < 70.80 fL are strongly suggestive of the presence of one α(0) allele. Finally, an accurate presumptive diagnosis of Hb H disease can be made if both RDW ≥ 20% and MCH < 19 pg are seen. MDPI 2017-12-13 /pmc/articles/PMC5751308/ /pubmed/29236053 http://dx.doi.org/10.3390/ijms18122707 Text en © 2017 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Velasco-Rodríguez, Diego Blas, Carlos Alonso-Domínguez, Juan-Manuel Vega, Gala Soto, Carlos García-Raso, Aránzazu Llamas-Sillero, Pilar Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia |
title | Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia |
title_full | Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia |
title_fullStr | Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia |
title_full_unstemmed | Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia |
title_short | Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia |
title_sort | cut-off values of hematologic parameters to predict the number of alpha genes deleted in subjects with deletional alpha thalassemia |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5751308/ https://www.ncbi.nlm.nih.gov/pubmed/29236053 http://dx.doi.org/10.3390/ijms18122707 |
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