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...
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doaj-2a521b53461745f28e1a7df18bdb541b2020-11-25T01:02:25ZengMDPI AGInternational Journal of Molecular Sciences1422-00672017-12-011812270710.3390/ijms18122707ijms18122707Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha ThalassemiaDiego Velasco-Rodríguez0Carlos Blas1Juan-Manuel Alonso-Domínguez2Gala Vega3Carlos Soto4Aránzazu García-Raso5Pilar Llamas-Sillero6Servicio de Hematología, Hospital Universitario, Fundación Jiménez Díaz, IIS-FJD, Universidad Autónoma de Madrid, 28029 Madrid, SpainServicio de Hematología, Hospital Universitario, Fundación Jiménez Díaz, IIS-FJD, Universidad Autónoma de Madrid, 28029 Madrid, SpainServicio de Hematología, Hospital Universitario, Fundación Jiménez Díaz, IIS-FJD, Universidad Autónoma de Madrid, 28029 Madrid, SpainServicio de Hematología, Hospital Universitario, Fundación Jiménez Díaz, IIS-FJD, Universidad Autónoma de Madrid, 28029 Madrid, SpainServicio de Hematología, Hospital Universitario, Fundación Jiménez Díaz, IIS-FJD, Universidad Autónoma de Madrid, 28029 Madrid, SpainServicio de Hematología, Hospital Universitario, Fundación Jiménez Díaz, IIS-FJD, Universidad Autónoma de Madrid, 28029 Madrid, SpainServicio de Hematología, Hospitales Quirón Públicos, IIS-FJD, Universidad Autónoma de Madrid, 28029 Madrid, SpainMost 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 α0 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 α0 allele should be discarded in individuals with microcytosis without iron deficiency and normal values of Hb A2 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 α0 allele. Finally, an accurate presumptive diagnosis of Hb H disease can be made if both RDW ≥ 20% and MCH < 19 pg are seen.https://www.mdpi.com/1422-0067/18/12/2707alphathalassemiadeletionalcut-offnumber of genesmicrocytic anemiadifferential diagnosis |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Diego Velasco-Rodríguez Carlos Blas Juan-Manuel Alonso-Domínguez Gala Vega Carlos Soto Aránzazu García-Raso Pilar Llamas-Sillero |
spellingShingle |
Diego Velasco-Rodríguez Carlos Blas Juan-Manuel Alonso-Domínguez Gala Vega Carlos Soto Aránzazu García-Raso Pilar Llamas-Sillero Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia International Journal of Molecular Sciences alpha thalassemia deletional cut-off number of genes microcytic anemia differential diagnosis |
author_facet |
Diego Velasco-Rodríguez Carlos Blas Juan-Manuel Alonso-Domínguez Gala Vega Carlos Soto Aránzazu García-Raso Pilar Llamas-Sillero |
author_sort |
Diego Velasco-Rodríguez |
title |
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_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_sort |
cut-off values of hematologic parameters to predict the number of alpha genes deleted in subjects with deletional alpha thalassemia |
publisher |
MDPI AG |
series |
International Journal of Molecular Sciences |
issn |
1422-0067 |
publishDate |
2017-12-01 |
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 α0 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 α0 allele should be discarded in individuals with microcytosis without iron deficiency and normal values of Hb A2 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 α0 allele. Finally, an accurate presumptive diagnosis of Hb H disease can be made if both RDW ≥ 20% and MCH < 19 pg are seen. |
topic |
alpha thalassemia deletional cut-off number of genes microcytic anemia differential diagnosis |
url |
https://www.mdpi.com/1422-0067/18/12/2707 |
work_keys_str_mv |
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