Incidence of β-thalassemia carrier on 1495 couples in preconceptional period

Dell'Edera, Domenico; Epifania, Annunziata Anna; Malvasi, Antonio; Pacella, Elena; Tinelli, Andrea; Capalbo, Antonio; Lioi, Maria Brigida; Renzo, Gian Carlo Di

doi:10.3109/14767058.2012.735998

Cited by 5 publications

(5 citation statements)

References 8 publications

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“…β-Thalassaemia is an inherited anaemia resulting from genome variants in β-globin chains. This disease is most prevalent in Africa, 1 Asia, 2 Mediterranean 3 and the Middle East. 4 Quantification of haemoglobin alpha 2 (HbA 2 ) percentage by capillary electrophoresis and routine haematology testing are the existing methods for screening thalassaemia and haemoglobinopathies.…”

Section: Introductionmentioning

confidence: 99%

Haematological and electrophoretic characterisation of β-thalassaemia in Yunnan province of Southwestern China

Zhang

Mao

et al. 2017

BMJ Open

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Objectivesβ-Thalassaemia is widely found in Southwestern China. Characterisation of β-thalassaemia can improve screening and prenatal diagnosis for at-risk populations.DesignA retrospective study.MethodsIn this study, the levels of haemoglobin alpha 2 (HbA2) and haemoglobin alpha (HbA) were analysed by gender for a total of 15 067 subjects screened by capillary electrophoresis. The cut-off value with the highest accuracy was established to identify β-thalassaemia in 723 patients suspected to have this disease. Haematological and electrophoretic characterisation of eight common types of β-thalassaemia were analysed in 486 β-thalassaemia subjects.ResultsHbA levels were significantly higher in men than in women, but there was no significant difference on HbA2 levels. A new cut-off value for the diagnosis of β-thalassaemia (HbA2≥4.0%) with the highest accuracy was proposed for the studied populations. Haemoglobin (Hb) was significantly higher in men compared with women (p<0.05), whereas no statistically significant differences were found for mean cell volume (MCV), mean cell haemoglobin (MCH), HbA and HbA2. The haemoglobin E (HbE) group showed comparatively higher values for haematological indices (Hb, MCV and MCH) than the other genotypes in heterozygous β-thalassaemia groups (p<0.05), and −28 (A>G) (HBB (β-globin):c.−78A>C) had signiﬁcantly higher HbA2 values compared with other β-thalassaemia.ConclusionsEthnic groups have diversified β-globin gene mutations and considerable haematological variations. Our study will lay the foundation for screening programmes and clinical management of thalassaemia in Southwestern China.

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Section: Introductionmentioning

confidence: 99%

Haematological and electrophoretic characterisation of β-thalassaemia in Yunnan province of Southwestern China

Zhang

Mao

et al. 2017

BMJ Open

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“…Of 37 studies regarding factors affecting RBC indices, 67.6% (n=25) identified silent or mild β-thalassemia carriers with normal or marginal MCV and/or MCH. Of 25 studies, 6 (24%) originated from Italy, 6 , 22-26 5 (20%) from India, 14 , 27-30 4 (16%) from China, 31-34 2 (8%) each from Thailand, 35 , 36 Iran 37 , 38 and Pakistan, 39 , 40 one (4%) each from Turkey, 41 Bahrain, 42 Malaysia, 43 and Spain. 44 Silent or mild β-thalassemia mutations reported from different countries are listed in Table 1 .…”

Section: Resultsmentioning

confidence: 99%

Unresolved laboratory issues of the heterozygous state of β-thalassemia: a literature review

Thilakarathne,

Jayaweera,

Premawardhena

2023

haematol

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Although considered a mild clinical condition, many laboratory issues of the carrier state of beta-thalassaemia remain unresolved. Accurate laboratory screening of beta-thalassaemia traits is crucial for preventing the birth of a beta-thalassaemia major child. Identification of carriers in the laboratory is affected by factors that influence red cell indices and HbA2 quantification. Silent mutations and co-inheriting genetic and non-genetic factors affect red cell indices which decreases the effectiveness of the conventional approach. Similarly, the type of beta mutation, co-inheriting genetic and non-genetic factors, and technical aspects, including the analytical method used and variations in the HbA2 cutoff values, affect the HbA2 results leading to further confusion. However, the combination of MCV, MCH and haemoglobin analysis increases the diagnostic accuracy. Diagnostic problems arising from non-genetic factors can be eliminated by carefully screening the patient’s clinical history. Still, issues due to certain genetic factors, such as Krüppel-like factor 1 gene mutations and alpha triplication remain unresolved. Each laboratory should determine the populationspecific reference ranges and be wary of machine-related variations of HbA2 levels, the prevalence of silent mutations in the community.

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“…This paper aimed to highlight how the study based on biochemical data alone, in some cases, is not reliable to correctly highlight the related genetic defect. This could lead to an incorrect clinical assessment resulting in an inaccurate prognosis [1,2].…”

Section: Introductionmentioning

confidence: 99%

Biochemical Investigation Limits in Recognizing Some Abnormal Hemoglobin Types: Hemoglobins O Arab And S

Dell'Edera¹,

Mangia²,

Dell’Edera³

et al. 2022

J Clin Biomed Res

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Hemoglobinopathies are a major health problem worldwide. These disorders are characterized by a variable clinical and hematological situation related to a phenotypic heterogeneity. Moreover, in order to have an exact correlation between the biochemical picture and the genetic defect associated with it, it is useful and often indispensable the molecular study of alpha and beta globin genes. The present case report concerns a pregnant woman of Moroccan ethnicity who came to our observation to undergo combined first-trimester testing useful for screening of major chromosomal aneuploidies. Study of hemoglobins A, A2, and F by High performance liquid chromatography (HPLC) revealed the presence of a proportion of abnormal hemoglobin associated with hemoglobin S. Molecular investigation of globin genes excluded that the biochemical variant in question was related to hemoglobin S. In fact, molecular investigation of beta globin genes, found that the observed variant was due to the presence of a genetic defect leading to hemoglobin O Arab synthesis. Evidence suggests that molecular analysis of globin genes provides the most effective and correct way to correlate the detected biochemical picture with its associated genetic defect. The only biochemical study in the presented case determines an incorrect clinical evaluation with consequent inaccurate prognosis. The mutation detected in this work can be identified using a simple and inexpensive kit. This would generate, in economic terms, significant savings associated with a correct diagnosis

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Incidence of β-thalassemia carrier on 1495 couples in preconceptional period

Cited by 5 publications

References 8 publications

Haematological and electrophoretic characterisation of β-thalassaemia in Yunnan province of Southwestern China

Haematological and electrophoretic characterisation of β-thalassaemia in Yunnan province of Southwestern China

Unresolved laboratory issues of the heterozygous state of β-thalassemia: a literature review

Biochemical Investigation Limits in Recognizing Some Abnormal Hemoglobin Types: Hemoglobins O Arab And S

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