Neonatal screening for α‐thalassemia by cord hemoglobin Barts: how effective is it?

Wu, Man-Yu; Xie, Xing-Mei; Li, J.; Li, D.-Z.

doi:10.1111/ijlh.12376

Cited by 7 publications

(5 citation statements)

References 23 publications

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“…The sensitivity and specificity for diagnosing α‐thalassemia were 95% and 98%, respectively, using a cutoff value of 0.2%. It should be noted that, as the amount of Hb Bart's can be roughly associated with the number of affected α genes, a high proportion of silent α‐thalassemia carriers might be missed by this screening method 20,21 . The detection limit for Hb Bart's in the Sebia Capillarys 2 Neonat Fast™ system is 0.1%, and 20.15% of ‐α 3.7 /αα, 11.11% of ‐α 4.2 /αα, and 56.25% of α WS α/αα cases were under the detection limit which might lead to misdiagnosis.…”

Section: Discussionmentioning

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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Section: Discussionmentioning

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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“…In this study, Hb Bart's was detected only in three cases (9.09%) and the majority of cases were negative. It is important to note that the absence of Hb Bart's does not exclude the presence of α-thalassemia in newborns (especially in mild α-3.7/αα interactions) and diagnosis can only be confirmed by the molecular analysis (27).…”

Section: Discussionmentioning

confidence: 99%

Prevalence and molecular characterization of alpha-thalassemia among newborns in Ardabil Province

Fathi¹,

Damandan²,

Valizadeh³

et al. 2020

Electron. physician

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Background and objective: Alpha-thalassemia is one of the most recessively congenital hemoglobin disorders in the world, and is characterized by decreased or absence of alpha globin chains production. Although it has been suggested that the frequency of alpha-thalassemia in Iran is greater than worldwide, its exact rate is unknown. Due to lack of more studies on this topic in this area, the aim of the present study was to determine prevalence and molecular characterization of alpha-thalassemia among newborns in Ardabil Province. Methods: In this cross-sectional study, one thousand newborns were referred for screening of alpha thalassemia at a pediatric unit in Ardabil province between April 2016 and March 2018. Cases with Mean Corpuscular Volume (MCV) <100 fL and Mean Corpuscular Hemoglobin (MCH) < 33 pg were referred for serum Ferritin measurement, Hb electrophoresis and then genetic analysis. Collected data were analyzed by statistical methods such as number, percent and Mean±SD in SPSS version 21. Results:The prevalence of α-thalassemia in studied newborns was 3.3% in Ardabil province. The most common mutation was the 3.7 single gene deletions that were found in 42.4% (14 cases) of newborns with α-Thalassemia. Conclusions: Results showed that, the prevalence of α-thalassemia in Ardabil province was lower than the average rate for the country and the most common mutation was -α 3.7 /αα, which was similar to other places in Iran.

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“…[46] Among them, an ovela symmetric domino g-addition/cyclization reactiono fa,b-unsaturated aldehydes 102 with bbromo-a-keto esters 103 was disclosedb yW ange tal., in 2015 (Scheme 33). [47] This process was catalyzed by ac ombination of 20 mol% of chiral N-heterocyclic carbene( NHC)c atalyst 104 with 10 mol% of Sc(OTf) 3 in toluene at room temperature in the presence of CsOAc as ab ase,l eading to the corresponding chiral unsaturated d-lactones 105 in moderate to high yields (67-88%), uniformly very high diastereoselectivity (> 90% de)a nd moderate to excellent enantioselectivities (40-98% ee). Especially,t he reactions of a,b-unsaturated aldehydes bearing various (hetero)aromatic substituents (R 1 )p rovided good to high yields( 70-88%) andu niformly high enantioselectivities (85-98% ee).…”

Section: Organo-and Other Metal Catalysismentioning

confidence: 99%

Recent Developments in Enantioselective Multicatalyzed Tandem Reactions

Pellissier

2020

Adv Synth Catal

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This review presents an update on the emerging field of enantioselective multicatalyzed tandem reactions published since the beginning of 2015. It illustrates how much the combination of different types of catalyst allows unprecedented enantioselective one‐pot reactions of many types to be achieved, allowing a direct access to a variety of very complex chiral molecules. Abbreviations: acac: acetylacetonate; Ar: aryl; Bn: benzyl; Boc: tert‐butoxycarbonyl; BPE: 1,2‐bis(2‐pyridyl)ethane; Bz: benzoyl; CAPT: chiral anion phase‐transfer; Cbz: benzyloxycarbonyl; cod: cyclooctadiene; Cy: cyclohexyl; dba: (E,E)‐dibenzylideneacetone; DBU: 1,8‐diazabicyclo[5.4.0]undec‐7‐ene; DCE: dichloroethane; de: diastereomeric excess; DIPEA: diisopropylethylamine; dme: 1,2‐dimethoxyethane; DPG: 1,3‐diphenylguanidine; dppe: 1,2‐bis(diphenylphosphino)ethane; ee: enantiomeric excess; EWG: electron‐withdrawing group; Hept: heptyl; Hex: hexyl; L: ligand; MTBE: methyl tert‐butyl ether; MOM: methoxymethyl; MS: molecular sieves; Naph: naphthyl; NHC: N‐heterocyclic carbene; Pent: pentyl; Phth: phthaloyl; pin: pinacolato; Pybox: 2,6‐bis(2‐oxazolyl)pyridine; r.t.: room temperature; TEMPO: 2,2,6,6‐tetramethylpiperidine 1‐oxyl; Tf: trifluoromethanesulfonyl; THF: tetrahydrofuran; TMP: 2,2,6,6‐tetramethylpiperidine; TMS: trimethylsilyl; Tol: tolyl; triphos: bis(diphenylphosphinoethyl)phenylphosphine; Ts: 4‐toluenesulfonyl (tosyl).

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Neonatal screening for α‐thalassemia by cord hemoglobin Barts: how effective is it?

Abstract: For newborns of one α-gene mutation, especially for 3.7-kb deletion, the method based on Hb Bart's is inadequate and is therefore not reliable for screening.

Cited by 7 publications

References 23 publications

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

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

Prevalence and molecular characterization of alpha-thalassemia among newborns in Ardabil Province

Recent Developments in Enantioselective Multicatalyzed Tandem Reactions

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