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; Vega, Gala; Soto, Carlos; García-Raso, Aránzazu; Llamas-Sillero, Pilar

doi:10.20944/preprints201709.0100.v1

Cited by 6 publications

(8 citation statements)

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“…However, in our experience, we have observed that MCV values are usually less in alpha‐thalassemia 1 trait than that in beta‐thalassemia trait and the two entities may need different optimal cutoffs. Our observation is supported by the finding reported by Velasco‐Rodríguez et al who found that the best cutoff of MCV for alpha‐thalassemia 1 trait was ≤70.80 fL. However, the number of the cases in their study was relatively small.…”

Section: Introductionsupporting

confidence: 91%

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Optimal cutoff of mean corpuscular volume (MCV) for screening of alpha‐thalassemia 1 trait

Nunchai

Sirichotiyakul

Tongsong

2020

J of Obstet and Gynaecol

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Aim: To identify the optimal cutoff of mean corpuscular volume (MCV) for screening of alpha-thalassemia 1 trait. Methods: The database of pregnant women who attended antenatal care clinic at Department of Obstetrics and Gynecology, Chiang Mai University during January 1st, 2015 to December 31st, 2017 was accessed and reviewed. A total of 1264 cases who had MCV ≤80 fL and met the inclusion criteria were enrolled to the study. Cases with hemoglobin level ≤10.0 gm/dL, iron deficiency anemia, chronic medical diseases and other types of thalassemia trait except alpha-thalassemia 1 trait were excluded. Results: After exclusion, 438 cases were available for analysis. Of them, 139 were alpha-thalassemia 1 trait. Based on the receiver operating characteristic curves, the best cutoff value of MCV for screening of alphathalassemia 1 trait was ≤76.15 fL, giving 100% sensitivity, and 60.9% specificity with the area under curve of 0.925. Compared to the conventional cutoff (≤80 fL), the new cutoff gave much less false positive tests (117 vs 299 cases), whereas capability to detect alpha-thalassemia 1 trait was the same. Conclusion: With the new MCV cutoff (≤76.15 fL) as a secondary cutoff for screening alpha-thalassemia 1 carrier, a substantial number of positive cases requiring DNA analysis could be avoided without compromising the detection efficacy.

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Section: Introductionsupporting

confidence: 91%

“…Velasco‐Rodríguez et al tried to differentiate different subtypes of alpha‐thalassemia. They found that mean MCV for alpha‐thalassemia 1 trait were 67.34 ± 3.88 fL and suggested MCV ≤70.80 fL to be the cutoff value for alpha‐thalassemia 1 trait which provided a sensitivity and a specificity of 85.9% and 86.25%, respectively.…”

Section: Discussionmentioning

confidence: 99%

Optimal cutoff of mean corpuscular volume (MCV) for screening of alpha‐thalassemia 1 trait

Nunchai

Sirichotiyakul

Tongsong

2020

J of Obstet and Gynaecol

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“…Another interesting finding was the tendency of red cell volume distribution width (RDW) elevation proportionally to the loss of the alpha genes, corroborating with other studies in the literature. e thalassemia patients have smaller and more homogeneous erythrocytes (mainly microcytic), which leads us to correlate high RDW in iron deficiency than in thalassemia [34][35][36].…”

Section: Resultsmentioning

confidence: 99%

Deletional Alpha-Thalassemia Alleles in Amazon Blood Donors

Anselmo

Ferreira

Mota

et al. 2020

Advances in Hematology

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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 −α3.7/4.2/20.5, −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 –α−3.7 and only one donor with α−4.2 deletion. From the individuals with –α−3.7, 85.8% (n = 46) were heterozygous and 14.20% (n = 7) were homozygous. The frequency of the –α−3.7 deletion was higher in male (5.89%) than in female (4.0%). There is no significant difference in the distribution of –α−3.7 by gender (p=0.217). The –α20.5, −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 α-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 α-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 α-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.

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“…The same results suggest iron deficiency anemia, which was likely to indicate thalassemia in ethnic populated regions of countries at risk (20). In the literature, specifically, MCH, MCV, and RDW parameters were used in the differentiation of HMPs (21)(22)(23)(24). In our study, MCV, MCH, and RDW were significantly different in the groups with HMP in both genders than the control group.…”

Section: Discussionmentioning

confidence: 94%

A Different Look at Premarital Hemoglobinopathy Screening in Primary Care

Güzel

Çelikkol

Mekık³

2021

Konuralp Tıp Dergisi

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Objective: Despite the high prevalence of hemoglobinopathies (HBP), the most common single-gene disorders in Turkey, data in some regions are lacking. We aimed to evaluate the effectiveness of the hemoglobinopathy premarital screening program (PMS) and to investigate the contribution of efficient use of complete blood count (CBC) parameters on cost-effectivity. Methods: HMP diagnosed 49171 subjects in 4 years and CBC of subjects with HMP in a year were evaluated retrospectively. Results: The total incidence rate of HBP was 3.41%, β-thalassemia trait (β-TT) was 1.98%, HMP incidence in the PMS group was 2.43%, β-TT was 1.08%. Moreover, HbF, HbD, HbC, HbS, HbE and HbJ were detected with the incidences of 0.49%, 0.14%, 0.05%, 0.04%, 0.007% and 0.009%, respectively. RDW/MCH ratio compared to other indices was the most successful for both sexes in diagnostic efficiency of HBP (AUC: male:0.922female:0.961) and β-TT (AUC: male;0.928 -female:0.961). Conclusions: PMS was found to be an effective application program in HMP screening. RDW/MCH ratio was the most useful and easy parameter in detecting HBP and β-TT in PMS and in terms of reducing unnecessary test requests and cost-effectiveness in public health screenings.

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

Cited by 6 publications

References 0 publications

Optimal cutoff of mean corpuscular volume (MCV) for screening of alpha‐thalassemia 1 trait

Optimal cutoff of mean corpuscular volume (MCV) for screening of alpha‐thalassemia 1 trait

Deletional Alpha-Thalassemia Alleles in Amazon Blood Donors

A Different Look at Premarital Hemoglobinopathy Screening in Primary Care

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