Compound heterozygote state for <sup>G</sup>γ<sup>A</sup>γ(δβ)°‐thalassemia and hereditary persistence of fetal hemoglobin

Fucharoen, Supan; Panyasai, Sitthichai; Surapot, Satja; Fucharoen, Goonnapa; Sanchaisuriya, Kanokwan

doi:10.1002/ajh.20426

Cited by 5 publications

(2 citation statements)

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“…Only compound heterozygous for δβ 0 -thalassemia/β 0 -thalassemia is associated with severe β-thalassemia syndrome, requiring PND during pregnancy [28]. Other forms of high Hb F determinants including Hb E-δβ 0 -thalassemia, Hb E-HPFH, homozygous δβ 0 -thalassemia, δβ 0 -thalassemia/ HPFH, and HPFH/β-thalassemia are all associated with mild phenotype of thalassemia or clinically normal [5,[29][30][31][32]. As for β + -thalassemia, screening of these high Hb F determinants in the couple at risk before making a decision on PND is recommended.…”

Section: Plos Onementioning

confidence: 99%

Frequency of unnecessary prenatal diagnosis of hemoglobinopathies: A large retrospective analysis and implication to improvement of the control program

et al. 2023

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Objective To determine the frequency and etiology of unnecessary prenatal diagnosis for hemoglobinopathies during 12 years of services at a single university center in Thailand. Methods We conducted a retrospective cohort analysis of prenatal diagnosis during 2009–2021. A total of 4,932 couples at risk and 4,946 fetal specimens, including fetal blood (5.6%), amniotic fluid (92.3%), and chorionic villus samples (2.2%) were analyzed. Identification of mutations causing hemoglobinopathies was carried out by PCR-based methods. Maternal contamination was monitored by analysis of the D1S80 VNTR locus. Results Among 4,946 fetal specimens, 12 were excluded because of poor PCR amplification, maternal contamination, non-paternity, and inconsistency of the results of the fetuses and parents. Breakdown of 4,934 fetuses revealed 3,880 (78.6%) at risk for the three severe thalassemia diseases, including β-thalassemia major, Hb E-β-thalassemia, and homozygous α0-thalassemia, 58 (1.2%) at risk for other α-thalassemia diseases, 168 (3.4%) at risk for β+-thalassemia, 109 (2.2%) at risk for high Hb F determinants, 16 (0.3%) at risk for abnormal Hbs, and 294 (6.0%) with no risk of having severe hemoglobinopathies. The parents of 409 (8.3%) fetuses had inadequate data for fetal risk assessment. Overall, we encountered unnecessary prenatal diagnostic requests for 645 (13.1%) fetuses. Conclusions The frequency of unnecessary prenatal diagnosis was high. This could lead to unnecessary risk of complications associated with fetal specimen collection, psychological impacts to the pregnant women and their families, as well as laboratory expenses and workload.

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Section: Plos Onementioning

confidence: 99%

Frequency of unnecessary prenatal diagnosis of hemoglobinopathies: A large retrospective analysis and implication to improvement of the control program

et al. 2023

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“…In contrast, homozygous HPFH or compound heterozygous HPFH and β-thalassemia usually have no clinical symptom. However, these clinical phenotypes are generally overlapped which renders their differentiation in routine setting difficult unless DNA analysis is performed 5 – 7 . Since co-inheritance of these high Hb F determinants in β-thalassemia disease has an ameliorating effect on the disease severity, identification of them in routine practice is important.…”

Section: Introductionmentioning

confidence: 99%

Molecular basis of non-deletional HPFH in Thailand and identification of two novel mutations at the binding sites of CCAAT and GATA-1 transcription factors

Singha

Pansuwan

Chewasateanchai

et al. 2023

Sci Rep

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High Hb F determinants are genetic defects associated with increased expression of hemoglobin F in adult life, classified as deletional and non-deletional forms. We report the first description of non-deletional hereditary persistence of fetal hemoglobin (HFPH) in Thailand. Study was done on 388 subjects suspected of non-deletional HPFH with elevated Hb F expression. Mutations in the Gγ- and Aγ-globin genes were examined by DNA analysis and rapid diagnosis of HPFH mutations were developed by PCR-based methods. Twenty subjects with five different mutations were identified including three known mutations, − 202 Aγ (C>T) (n = 3), − 196 Aγ (C>T) (n = 3), and − 158 Aγ (C>T) (n = 12), and two novel mutations, − 117 Aγ (G>C) (n = 1) and − 530 Gγ (A>G) (n = 1). Interaction of the − 117 Aγ (G>C) and Hb E (HBB:c.79G>A) resulted in elevation of Hb F to the level of 13.5%. Two plain heterozygous subjects with − 530 Gγ (A>G) had marginally elevated Hb F with 1.9% and 3.0%, whereas the proband with homozygous − 530 Gγ (A>G) had elevated Hb F of 11.5%. Functional prediction indicated that the − 117 Aγ (G>C) and − 530 Gγ (A>G) mutations dramatically alter the binding of transcription factors to respective γ-globin gene promotors, especially the CCAAT and GATA-1 transcription factors. Diverse heterogeneity of non-deletional HFPH with both known and new mutations, and complex interactions of them with other forms of thalassemia are encountered in Thai population.

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A large cohort of deletional high hemoglobin F determinants in Thailand: A molecular revisited and identification of a novel mutation

Singha,

Tepakhan,

Yamsri

et al. 2023

Clinica Chimica Acta

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Compound heterozygote state for ^Gγ^Aγ(δβ)°‐thalassemia and hereditary persistence of fetal hemoglobin

Cited by 5 publications

References 22 publications

Frequency of unnecessary prenatal diagnosis of hemoglobinopathies: A large retrospective analysis and implication to improvement of the control program

Frequency of unnecessary prenatal diagnosis of hemoglobinopathies: A large retrospective analysis and implication to improvement of the control program

Molecular basis of non-deletional HPFH in Thailand and identification of two novel mutations at the binding sites of CCAAT and GATA-1 transcription factors

A large cohort of deletional high hemoglobin F determinants in Thailand: A molecular revisited and identification of a novel mutation

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Compound heterozygote state for GγAγ(δβ)°‐thalassemia and hereditary persistence of fetal hemoglobin

Cited by 5 publications

References 22 publications

Frequency of unnecessary prenatal diagnosis of hemoglobinopathies: A large retrospective analysis and implication to improvement of the control program

Frequency of unnecessary prenatal diagnosis of hemoglobinopathies: A large retrospective analysis and implication to improvement of the control program

Molecular basis of non-deletional HPFH in Thailand and identification of two novel mutations at the binding sites of CCAAT and GATA-1 transcription factors

A large cohort of deletional high hemoglobin F determinants in Thailand: A molecular revisited and identification of a novel mutation

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Compound heterozygote state for ^Gγ^Aγ(δβ)°‐thalassemia and hereditary persistence of fetal hemoglobin