Hematological phenotypes in children according to the α-globin genotypes

Origa, Raffaella; Barella, Susanna; Paglietti, Maria Elisabetta; Anni, Franco; Danjou, Fabrice; Denotti, Anna Rita; Desogus, Maria Franca; Loi, Daniela; Orecchia, Valeria; Sollaino, Maria Carla; Moi, Paolo

doi:10.1016/j.bcmd.2017.10.003

Cited by 4 publications

(10 citation statements)

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“…This is in line with a recent Italian study by Origa et al. [ 13 ] including 453 children where a significant overlap in MCV, MCH, and hemoglobin was seen between α + thalassemia heterozygous children and normal subjects and α‐thalassemia children with only two functional α‐globin genes, respectively. Yet, in contrast to our study, Origa et al.…”

Section: Discussionsupporting

confidence: 92%

“…However, when partitioned by number of functional α-genes in our Aside from the improved cost-efficiency of α-thalassemia genotyping in children when applying age-matched cut-offs, the risk of overlooking α-thalassemia in newborns is also decreased. It is wellestablished that the normal levels of MCV and MCH are higher in newborns compared to adults [13,23], meaning some newborns could be misclassified if their MCV/MCH level were above the lower limit for adults, but below the lower limit for newborns. ).…”

Section: Discussionmentioning

confidence: 99%

“…In these screening programs, mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) values are used to guide genetic evaluation, as α‐thalassemia carriers often present with microcytosis and are hypochromic; even though, α + thalassemia heterozygotes may be hematologically silent [ 10 ]. Based on the normal ranges for MCV and MCH in adults, cut‐off levels of MCV < 78–80 fl and/or MCH < 27 pg/ < 1.68 fmol are widely used internationally when determining which patients to genotype [ 10 , 11 , 12 , 13 ].…”

Section: Introductionmentioning

confidence: 99%

“…Hypocromia and microcytosis are typical biochemical findings in both iron deficiency anemia and α‐thalassemia, and therefore, α‐thalassemia genotyping in children with relevant biochemical findings and/or clinical symptoms is essential from a differential diagnostic point of view [ 14 ]. However, less information is available on the hematological parameters in children with α‐thalassemia [ 13 , 15 , 16 ] compared with adults. As a consequence, there seems to be a tendency to use the same cut‐offs for MCV and MCH for children as in adults when deciding which patients to genotype for α‐thalassemia [ 7 , 17 , 18 ], even though, it is well known that the normal ranges for these hematological parameters are lower in children.…”

Section: Introductionmentioning

confidence: 99%

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Impact of age‐dependent red blood cell parameters on α‐globin gene genotyping in children

Nissen

Narvestad‐Bøttger

Kristensen

et al. 2022

eJHaem

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When screening for α‐thalassemia in children, adult cut‐offs for mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) are generally applied to guide genetic evaluation. However, the normal ranges for MCV and MCH are lower in children than in adults, so we hypothesized that using age‐matched cut‐offs could lead to a more rational diagnostic strategy. The aim of this study was to evaluate if age‐matched cut‐offs could be applied advantageously. Data on children referred to a hemoglobin fractionation at the Department of Clinical Biochemistry, Aarhus University Hospital between 2016–2021 were identified in the laboratory information system. α‐globin gene (HBA1/HBA2) genotyping was performed using multiplex gap‐polymerase chain reaction. A total of 387 children were identified. HBA1/HBA2‐genotyping was performed in 207 children (53%), and α‐thalassemia was diagnosed in 47 children (23%) with −α3.7/αα being the predominant genotype (13%). We found that 23 children had MCV and MCH levels in the normal age‐matched range, and two of these children (9%) were α+ thalassemia carriers with three functional α‐globin genes. Using age‐specific cut‐off levels resulted in a reduction of 23 (11%) genotypes performed. In conclusion, applying age‐matched cut‐offs for MCV and MCH when screening children for α‐thalassemia lead to 11% fewer genotypes performed while 9% carriers of α+ thalassemia (of the medically innocuous genotype −α3.7/αα) would have been overlooked.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Impact of age‐dependent red blood cell parameters on α‐globin gene genotyping in children

Nissen

Narvestad‐Bøttger

Kristensen

et al. 2022

eJHaem

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“…The correlation between clinical phenotypes, hematological parameters, α-globin genotypes, and laboratory biomarkers in different populations had been studied. 4 – 6…”

Section: Introductionmentioning

confidence: 99%

Clinical and molecular genetic features of Hb H and AE Bart’s diseases in central Thai children

Traivaree

Boonyawat

Monsereenusorn

et al. 2018

TACG

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Backgroundα-Thalassemia, one of the major thalassemia types in Thailand, is caused by either deletion or non-deletional mutation of one or both α-globin genes. Inactivation of three α-globin genes causes hemoglobin H (Hb H) disease, and the combination of Hb H disease with heterozygous hemoglobin E (Hb E) results in AE Bart’s disease.ObjectiveThis study aimed to characterize the clinical and hematological manifestations of 76 pediatric patients with Hb H and AE Bart’s diseases treated at Phramongkutklao Hospital, a tertiary care center for thalassemia patients in central Thailand.Patients and methodsSeventy-six unrelated pediatric patients, 58 patients with Hb H disease and 18 patients with AE Bart’s disease, were enrolled in this study. Their clinical presentations, transfusion requirement, laboratory findings, and mutation analysis were retrospectively reviewed and analyzed.ResultsA total of 76 pediatric patients with Hb H and AE Bart’s diseases who mainly lived in central Thailand were included in this study. The clinical severities of patients with non-deletional mutations were more severe than those with deletional mutations. Eighty-six percent of patients with non-deletional AE Bart’s disease required more blood transfusion compared to 12.5% of patients with deletional AE Bart’s disease. Non-deletional AE Bart’s disease also had a history of urgent blood transfusion with the average of 6±0.9 times compared to 1±0.3 times in patients with deletional Hb H disease. The difference was statistically significant.ConclusionThis study revealed the differences in clinical spectrum between patients with Hb H disease and those with AE Bart’s disease in central Thailand. The differentiation of α-thalassemia is essential for appropriate management of patients. The molecular diagnosis is useful for diagnostic confirmation and genotype–phenotype correlation.

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Management of the aging beta-thalassemia transfusion-dependent population – The Italian experience

et al. 2019

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Hematological phenotypes in children according to the α-globin genotypes

Cited by 4 publications

References 11 publications

Impact of age‐dependent red blood cell parameters on α‐globin gene genotyping in children

Impact of age‐dependent red blood cell parameters on α‐globin gene genotyping in children

Clinical and molecular genetic features of Hb H and AE Bart’s diseases in central Thai children

Management of the aging beta-thalassemia transfusion-dependent population – The Italian experience

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Hematological phenotypes in children according to the α-globin genotypes

Cited by 4 publications

References 11 publications

Impact of age‐dependent red blood cell parameters on α‐globin gene genotyping in children

Impact of age‐dependent red blood cell parameters on α‐globin gene genotyping in children

Clinical and molecular genetic features of Hb H and AE Bart&rsquo;s diseases in central Thai children

Management of the aging beta-thalassemia transfusion-dependent population – The Italian experience

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Product

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Clinical and molecular genetic features of Hb H and AE Bart’s diseases in central Thai children