Spectrum of β-Thalassemia and Other Hemoglobinopathies in the Saurashtra Region of Gujarat, India: Analysis of a Large Population Screening Program

Vachhani, Nishith A.; Vekariya, Daya J.; Colah, Roshan; Kashiyani, Heena N.; Nandani, Sanjeev L.

doi:10.1080/03630269.2022.2142608

Cited by 6 publications

(2 citation statements)

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“…These programs typically involve initial tests, such as measuring red blood cell indices and quantifying hemoglobin(Hb)A2 levels. Although quantifying HbA2 using techniques such as capillary electrophoresis or high-performance liquid chromatography is effective in detecting most β-thalassemia traits, identifying α-thalassemia traits remains challenging owing to limited screening tests ( Han et al, 2019 ; Mustafa et al, 2020 ; Jiang et al, 2021 ; Vachhani et al, 2022 ). In certain cases, such as individuals with borderline hypochromia, compound triplicated α-globin genes, or β-thalassemia, α 0 -thalassemia may remain undetected ( Sorour et al, 2007 ; Colaco and Nadkarni, 2021 ).…”

Section: Introductionmentioning

confidence: 99%

Routine antenatal molecular testing for α-thalassemia at a tertiary referral hospital in China: ten years of experience

Li,

Liang,

Meng

et al. 2024

Front. Genet.

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ObjectiveThis study aimed to evaluate the efficacy of α-thalassemia gene testing as a part of an antenatal intervention program over a 10-year period.MethodsAll patients underwent α-thalassemia gene testing, which included the analysis of three types of deletions and mutations. Rare α-thalassemia gene testing was performed using Sanger sequencing, multiplex ligation-dependent probe amplification, and sequencing techniques. Prenatal diagnosis was performed in high-risk couples using chorionic villus sampling or amniocentesis.ResultsFrom 2010 to 2019, among the 91,852 patients examined, α-thalassemia mutations were identified in 41.78% of patients. The most frequent α0 gene mutation was--SEA, followed by--THAI. Two rare α0-thalassemia gene mutations at --32.8 and --230, were also observed. A total of 2,235 high-risk couples were identified, of which 562 were affected, including three with the--SEA/--THAI genotype and one with the--SEA/--230 genotype. Additionally, prenatal diagnosis revealed four cases of fetal anemia and/or mild edema, along with two cases of severe fetal edema. Chromosome and gene chip results were normal. Thalassemia gene testing showed an αCSα/αCSα genotype in four patients with anemia and/or mild edema, while two patients with severe fetal edema had one--SEA/αCSα genotype and one--SEA/--GX genotype. Using the cut-off points of 74.6 fL and 24.4 pg as criteria for identifying α0-thalassemia carriers and HbH disease, the detection rate of missed diagnoses in high-risk couples is consistent with national guidelines for standards, potentially saving 10,217,700 ¥.ConclusionRoutine molecular testing for α-thalassemia in high-risk prenatal populations effectively prevented severe α-thalassemia births. Despite the high cost, the cutoff points proposed by this study suggest that implementing screening using a new parameter has the potential to reduce current expenses.

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Section: Introductionmentioning

confidence: 99%

Routine antenatal molecular testing for α-thalassemia at a tertiary referral hospital in China: ten years of experience

Li,

Liang,

Meng

et al. 2024

Front. Genet.

View full text Add to dashboard Cite

show abstract

“…These programs typically involve initial tests, such as measuring red blood cell indices and quantifying hemoglobin(Hb) A2 levels. Although quantifying HbA2 using techniques such as capillary electrophoresis or high-performance liquid chromatography is effective in detecting most β-thalassemia traits, identifying αthalassemia traits remains challenging owing to limited screening tests (Han et al, 2019;Mustafa et al, 2020;Jiang et al, 2021;Vachhani et al, 2022). In certain cases, such as individuals with borderline hypochromia, compound triplicated α-globin genes, or βthalassemia, α 0 -thalassemia may remain undetected (Sorour et al, 2007;Colaco and Nadkarni, 2021).…”

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confidence: 99%