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

ABSTRACT: Most ?-thalassemia cases are caused by deletions of the structural ?-globin genes. The degree of microcytosis and hypochromia has been correlated with the number of affected ?-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 ?-thalassemia are yet to be clearly defined. Six hematologic parameters (RBC, Hb, MCV, MCH, MCHC and RDW) were evaluated in 129 cases of deletional ?-thalassemia (56 heterozygous ?? thalassemia, 36 homozygous ?? thalassemia, 29 heterozygous ?? 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 ?? allele should be discarded in individuals with microcytosis without iron deficiency and normal values of Hb A? 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 ?? allele. Finally, an accurate presumptive diagnosis of Hb H disease can be made if both RDW ? 20% and MCH < 19 pg are seen.

SUBMITTER: Velasco-Rodriguez D

PROVIDER: S-EPMC5751308 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature

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

Velasco-Rodríguez Diego D Blas Carlos C Alonso-Domínguez Juan-Manuel JM Vega Gala G Soto Carlos C García-Raso Aránzazu A Llamas-Sillero Pilar P

International journal of molecular sciences 20171213 12

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 c ...[more]

PMID: 29236053

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Project description:Alpha-thalassemia is highly prevalent in the plural society of Brazil and is a public health problem. There is limited knowledge on its accurate frequency and distribution in the Amazon region. Knowing the frequency of thalassemia and the prevalence of responsible mutations is, therefore, an important step in the understanding and control program. Hematological and molecular data, in addition to serum iron and serum ferritin, from 989 unrelated first-time blood donors from Amazonas Hemotherapy and Hematology Foundation (FHEMOAM) were collected. In this study, the subjects were screened for -? 3.7/4.2/20.5, -SEA, -FIL, and -MED deletions. Alpha-thalassemia screening was carried out between 2016 and 2017 among 714 (72.1%) male and 275 (27.9%) female donors. The aims of this analysis were to describe the distribution of various alpha-thalassemia alleles by gender, along with their genotypic interactions, and to illustrate the hematological changes associated with each phenotype. Amongst the patients, 5.35% (n?=?53) were diagnosed with deletion -? -3.7 and only one donor with ? -4.2 deletion. From the individuals with -? -3.7, 85.8% (n?=?46) were heterozygous and 14.20% (n?=?7) were homozygous. The frequency of the -? -3.7 deletion was higher in male (5.89%) than in female (4.0%). There is no significant difference in the distribution of -? -3.7 by gender (p = 0.217). The -? 20.5, -SEA, and -MED deletions were not found. All subjects were analyzed for serum iron and serum ferritin, with 1.04% being iron deficient (n?=?5) and none with very high levels of stored iron (>220?µg/dL). Alpha-thalassemia-23.7kb deletion was the most common allele detected in Manaus blood donors, which is a consistent result, once it is the most common type of ?-thalassemia found throughout the world. As expected, the mean of hematological data was significantly lower in alpha-thalassemia carriers (p < 0.001), mainly homozygous genotype. Leukocytes and platelet count did not differ significantly. Due to the small number of individuals with iron deficiency found among blood donors, the differential diagnosis between the two types of anemia was not possible, even because minor changes were found among hematological parameters with iron deficiency and ?-thalassemia. Despite this, the study showed the values of hematological parameters, especially MCV and MCH, are lower in donors with iron deficiency, especially when associated with ?-thalassemia, and therefore, it may be useful to discriminate different types of microcytic anaemia. In conclusion, we believed screening for thalassemia trait should be included as part of a standard blood testing before blood donation. It should be noted that this was the first study to perform the screening for alpha deletions in blood donors from the Manaus region, and further studies are required to look at the effects of donated thalassemic blood.

Dataset Information

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

Publications

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

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