Thalassemia in the laboratory: pearls, pitfalls, and promises

Aliyeva, Gunay; Asadov, Chingiz; Mammadova, Tahira; Gafarova, Surmaya; Abdulalimov, Eldar

doi:10.1515/cclm-2018-0647

Cited by 25 publications

(21 citation statements)

References 81 publications

(110 reference statements)

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“… 5 Red blood cell indices including mean corpuscular volume (MCV) or mean corpuscular hemoglobin (MCH) and HbA2 quantification were often utilized to find carriers. 6 Cut‐off values of hematologic parameters are used in determining whether molecular methods are needed, 7 including Gap‐PCR and RDB for known breaking point or mutations and MLPA and next‐generation sequencing for rare genotypes of thalassemia.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of intervention strategy of thalassemia for couples of childbearing ages in Centre of Southern China

Jiang

Zuo

et al. 2021

Clinical Laboratory Analysis

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Hemoglobinopathies are the most common Mendelian disorders including abnormal hemoglobin variants and thalassemia in the world. 1 α thalassemia major leads to hydrops fetalis or perinatal death. β thalassemia major and some types of abnormal hemoglobin variants such as hemoglobin S, C compound with β thalassemia minor causes severe anemia. Carrier screening and high-risk couple subjected to prenatal diagnosis are the main content of the thalassemia control plan. 2,3 Population-screening programs for hemoglobinopathies

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Section: Introductionmentioning

confidence: 99%

Evaluation of intervention strategy of thalassemia for couples of childbearing ages in Centre of Southern China

Jiang

Zuo

et al. 2021

Clinical Laboratory Analysis

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“…Newborn thalassemia screening can be achieved mainly on the separation and measurement of the hemoglobin fractions using high‐performance liquid chromatography (HPLC), capillary electrophoresis (CE), or isoelectric focusing (IEF) 7‐11 . All types of α‐thalassemia cause the formation of γ 4 (Hb Bart's) tetramers at birth, making it an ideal screening target and widely used 12,13 .…”

Section: Introductionmentioning

confidence: 99%

Application of an optimized interpretation model in capillary hemoglobin electrophoresis for newborn thalassemia screening

Zou

Huang

et al. 2021

Int J Lab Hematology

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Introduction Newborn screening is an important supplement to thalassemia control and prevention. Capillary electrophoresis (CE) technology has several advantages for thalassemia screening but with low sensitivity, especially for thalassemia carriers. This study aims to illustrate the application of an optimized interpretation model in newborn thalassemia screening by capillary hemoglobin electrophoresis. Methods Two thousand, two hundred fifty‐eight neonates selected from four regions in China were enrolled and were screened for α‐thalassemia and β‐thalassemia by capillary electrophoresis. Results were interpreted based on an optimized model integrated with multiple parameters. Molecular analysis was carried out in synchrony and used as the gold standard for the screening performance assessment. The consistency among different regions and thalassemia genotypes were also investigated. Results Among the 2258 neonates, 485 were identified to have a likely diagnosis of thalassemia, and 422 α‐thalassemia, 80 β‐thalassemia, and 21 α/β‐thalassemia cases were confirmed by molecular analysis, including 277 α‐thalassemia silent carriers, 135 α‐thalassemia trait carriers, 10 Hemoglobin H disease, and 80 β‐thalassemia trait carriers. The screening sensitivity, specificity, positive, and negative predictive value for α‐thalassemia and β‐thalassemia were 84.83%, 99.14%, 95.98%, 96.41%, and 88.75%, 98.73%, 76.34%, and 99.48%, respectively. The optimized interpretation model showed higher performance for thalassemia carriers, though some neonates with silent α‐thalassemia genotypes (‐α3.7/αα, ‐α4.2/αα, and αWSα/αα) and β‐28/βN genotype were still missed. The screening performance among different regions was comparable. Conclusions Capillary hemoglobin electrophoresis with the optimized interpretation model shows reliable performance for newborn thalassemia screening. It is applicable to large‐scale population screening.

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“…β‐Thalassemia carriers were recruited from cohorts of young males screened for obligatory military service, and from couples screened for mandatory premarital screening. Inclusion criteria for the β‐thalassemia carrier group was HbA 2 levels above generally accepted cut‐off value −3.4% (Aliyeva, Asadov, Mammadova, Gafarova, & Abdulalimov, ; Stephens et al., ; Traeger‐Synodinos et al., ). The information on the geographical origin of β‐thalassemia carriers was collected, and patients were allocated into 10 groups of geographical regions (Absheron, Ganja‐Qazakh, Shaki‐Zaqatala, Lankaran, Guba‐Khachmaz, Aran, Mountainous Shirvan, Karabakh, Nakhchivan, and West Azerbaijan).…”

Section: Methodsmentioning

confidence: 99%

Molecular and geographical heterogeneity of hemoglobinopathy mutations in Azerbaijanian populations

Aliyeva¹,

Asadov²,

Mammadova³

et al. 2019

Annals of Human Genetics

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With the carrier rate of 4%–8.6%, β‐thalassemia is one of the most prevalent hereditary disorders in Azerbaijan. Taking into consideration the high frequency of β‐thalassemia as well as the occurrences of several other hemoglobinopathies, we conducted a large genotyping study to investigate the mutational background of common hemoglobinopathies in the country. Α‐ and β‐globin genes were evaluated in the carriers of mutations identified via hematological indices and hemoglobin fractions (n = 1,757). Genotyping of β‐thalassemia carriers identified through population screening revealed 32 mutations, with codon 8 [–AA]–34.96%, IVS‐II‐1 [G > A]–16.35%, and IVS‐I‐110 [G > A]–10.12% leading the spectrum. Analysis of associations of β‐thalassemia mutations with geographical regions of the country identified the strongest association between codon 8 [–AA] and Shaki‐Zaqatala, and codon 5 [–CT] in Mountainous Shirvan regions (ri > 6.00; p < 0.05). HbS, HbD‐Punjab, and HbE were the most prevalent among our variant hemoglobin cohort, commonly inherited in compounds with β‐thalassemia than in the homozygous state. We identified nine α‐thalassemia mutations, 20.5 kb and 3.7 kb deletions together accounting for 74% of the spectrum. Point mutations of α‐thalassemia were less common among our observations and were mainly inherited in compounds with deletions. Our results allow a better understanding of the wide spectrum of mutations in Azerbaijan and highlights the high heterogeneity of hemoglobinopathies in the local population.

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Thalassemia in the laboratory: pearls, pitfalls, and promises

Cited by 25 publications

References 81 publications

Evaluation of intervention strategy of thalassemia for couples of childbearing ages in Centre of Southern China

Evaluation of intervention strategy of thalassemia for couples of childbearing ages in Centre of Southern China

Application of an optimized interpretation model in capillary hemoglobin electrophoresis for newborn thalassemia screening

Molecular and geographical heterogeneity of hemoglobinopathy mutations in Azerbaijanian populations

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