Prenatal diagnosis of thalassemia in 695 pedigrees from southeastern China: a 10‐year follow‐up study. Issue 10 (4th September 2021)

• Record Type: Journal Article
• Authors: Huang, Hailong; Chen, Meihuan; Chen, Lingji; Zhang, Min; Wang, Yan; Lin, Na; Xu, Liangpu
• Is Part Of: Journal of clinical laboratory analysis. Volume 35:Issue 10(2021)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2021-09-04
• Subjects: follow‐up study -- prenatal diagnosis -- Southeastern China -- thalassemia -- α‐thalassaemia -- β‐thalassemia; Diagnosis, Laboratory -- Periodicals; Medical laboratory technology -- Periodicals; 616
• DOI: 10.1002/jcla.23982
• Languages: English
• ISSNs: 0887-8013

Abstract

Abstract: Thalassaemia is highly prevalent in southeastern China. This 10‐year follow‐up study aimed to characterize the genotype and karyotype of thalassaemia in fetal samples derived from thalassemia carriers in Fujian province, southeastern China. A total of 476 prenatal samples from 472 couples carrying α‐thalassaemia traits and 224 samples from 223 couples carrying β‐thalassaemia traits were collected for STR analysis, detection of thalassemia genotypes and karyotyping. The common deletional α‐thalassemias and rare thalassemia genotypes were detected using Gap‐PCR assay, and the common β ‐ globin gene mutations were detected using PCR‐RDB assay. We detected 43.49% prevalence of α‐thalassaemia minor, 26.05% prevalence of α‐thalassaemia intermediate and major and 1.89% prevalence of rare form among the 476 prenatal samples from couples with α‐thalassaemia, and 85 fetuses with β‐thalassemia heterozygote, 16 with homozygote and 21 with double heterozygote, and a rare β IVS−2−654(C→T) /Chinese Gγ ( A γδβ) 0 genotype among the 224 prenatal samples from couples with β‐thalassemia. Karyotyping showed 7 fetuses with abnormal karyotypes. Totally 153 pregnancies were terminated, and genetic diagnosis of thalassemia using fetal umbilical cord blood following induction of labor showed consistent results with prenatal diagnosis. No thalassemia phenotypes were identified in normal infants half a year after birth, and the infants with α‐thalassemia and β‐thalassemia minor had no or mild anemia symptoms, but normal development, while 15 babies with hemoglobin H disease presented moderate anemia symptoms. Our data suggest the pregestational screening of thalassemia, notably compound and rare forms of thalassemia, for couples carrying thalassemia traits. Abstract : Phenotypes of α‐thalassemia and β‐thalassemia detected in prenatal chorionic villus, amniotic fluid, and umbilical cord blood samples from thalassemia carriers in Fujian province, southeastern China from 2009 to 2018. A, α‐thalassemia; B, β‐thalassemia.