Hb Bart's in Cord Blood: An Accurate Indicator of α-Thalassemia

Rugless, Michelle; Fisher, Chris; Stephens, A. D.; Amos, R.; Mohammed, Tanwir; Old, John

doi:10.1080/03630260500454550

Cited by 32 publications

(20 citation statements)

References 7 publications

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“…All umbilical cord blood samples were subjected to preliminary screening for a-thal by determining the concentration of Hb Bart's. The newborns were considered as a-thal if their Hb Bart's level was above 1.5% (8). The blood samples of the second group of individuals with hypochromic microcytic anemia combined with a Hb A 2 level of less than 2.5% were selected for a-thal mutation analysis.…”

Section: Methods and Methodsmentioning

confidence: 99%

The Prevalence and Spectrum of α-Thalassemia in Guizhou Province of South China

et al. 2015

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α-Thalassemia (α-thal) is one of the most prevalent genetic diseases in the world and is especially frequent in tropical and subtropical regions, including South China. The aim of this study was to investigate the prevalence and spectrum of α-thal in Guizhou Province as this information was unknown. A total of 40 α-thal carriers were determined in 1219 newborn umbilical cord blood samples by hemoglobin (Hb) electrophoresis combined with DNA analysis, which revealed that the carrier rate of α-thal in Guizhou Province was 3.28%. One thousand and forty-five individuals referred to our hospital were tested for α-thal mutations. Two hundred and twenty-four cases were determined as α-thal carriers or patients. A total of 11 genotypes and five different α-thal mutations were identified in these 224 cases. Of these mutations, more than 96.0% were deletions, including - -(SEA) (65.89%), -α(3.7) (rightward) (22.87%) and -α(4.2) (leftward) (7.74%). The other two nondeletional mutations, Hb Constant Spring (Hb CS, α(CS)α, HBA2: c.427T > C) and Hb Quong Sze [Hb QS, α(QS)α, HBA2: c.377T > C (or HBA1)] account for 2.71% and 0.78%, respectively. The results of this study will be useful in genetic counseling and prenatal diagnosis (PND) of α-thal in Guizhou Province.

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Section: Methods and Methodsmentioning

confidence: 99%

The Prevalence and Spectrum of α-Thalassemia in Guizhou Province of South China

et al. 2015

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“…Such abnormalities include heterozygosity for haemoglobins S, C, D-Punjab, O-Arab, Lepore and, if fresh blood rather than a dried blood spot is used, α 0 thalassaemia 20. Detection of any of these in a neonate gives information that is likely to be relevant to future pregnancies in the mother.…”

Section: Detection Of Abnormalities Other Than Sickle Cell Diseasementioning

confidence: 99%

Neonatal/newborn haemoglobinopathy screening in Europe and Africa

Bain

2008

J Clin Pathol

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Neonatal/newborn haemoglobinopathy screening is being performed in an increasing number of European countries since changing patterns of immigration have led to significant numbers of neonates at risk of sickle cell disease. The purpose of screening is to improve management of sickle cell disease through early parental education and the institution of prophylaxis against infection. Some haemoglobinopathy screening programmes are stand-alone, while others are integrated into a neonatal screening programme for metabolic disorders. Despite the logistic problems and economic constraints, neonatal haemoglobinopathy screening is also being gradually introduced in a number of African countries.

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“…The screening test is based on the detection of Hb Bart's that is only possible within the newborn period, before γ-globin production switches to β-globin (2).The presence of Hb Bart's in newborns indicates that one or more of the four genes that produce α-globin chains are dysfunctional. The amount of Hb Bart's in the blood sample correlates with the number of α-globin genes that have been lost (3)(4)(5)(6). However, as shown in this study, Hb variants with a similar mobility to that of Hb Bart's could compromise the cord blood screening.…”

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confidence: 61%