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Article

Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia

1
Servicio de Hematología, Hospital Universitario, Fundación Jiménez Díaz, IIS-FJD, Universidad Autónoma de Madrid, 28029 Madrid, Spain
2
Servicio de Hematología, Hospitales Quirón Públicos, IIS-FJD, Universidad Autónoma de Madrid, 28029 Madrid, Spain
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2017, 18(12), 2707; https://doi.org/10.3390/ijms18122707
Received: 19 September 2017 / Revised: 2 December 2017 / Accepted: 9 December 2017 / Published: 13 December 2017
(This article belongs to the Special Issue Thalassemia in 2017)
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. View Full-Text
Keywords: alpha; thalassemia; deletional; cut-off; number of genes; microcytic anemia; differential diagnosis alpha; thalassemia; deletional; cut-off; number of genes; microcytic anemia; differential diagnosis
MDPI and ACS Style

Velasco-Rodríguez, D.; Blas, C.; Alonso-Domínguez, J.-M.; Vega, G.; Soto, C.; García-Raso, A.; Llamas-Sillero, P. Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia. Int. J. Mol. Sci. 2017, 18, 2707. https://doi.org/10.3390/ijms18122707

AMA Style

Velasco-Rodríguez D, Blas C, Alonso-Domínguez J-M, Vega G, Soto C, García-Raso A, Llamas-Sillero P. 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. 2017; 18(12):2707. https://doi.org/10.3390/ijms18122707

Chicago/Turabian Style

Velasco-Rodríguez, Diego, Carlos Blas, Juan-Manuel Alonso-Domínguez, Gala Vega, Carlos Soto, Aránzazu García-Raso, and Pilar Llamas-Sillero. 2017. "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 18, no. 12: 2707. https://doi.org/10.3390/ijms18122707

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