Characterization and identification of Prachinburi β⁰‐thalassemia: A novel‐60 kb deletion in beta globin gene related to high levels of Hb F in heterozygous state

Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China

“…When encountering rare thalassemia mutations in clinical applications, more methods are needed, such as Sanger sequencing of the entire globin gene, MLPA, specific primer Gap-PCR, and even next-generation sequencing (NGS), to verify the precise breakpoint. 27 , 30 , 31 In our study, two different company kits, Yaneng and Yishengtang, were used to detect conventional thalassemia, and there was no difference in the results, indicating that both of them can meet the needs of clinical practice. It was found that the hematology results of some patients with thalassemia silent had no different from those of normal people, so traditional testing schemes are likely to cause missed diagnoses.…”

Rapid molecular diagnostics of large deletional β0-thalassemia (3.5 kb and 45 kb) using colorimetric LAMP in various thalassemia genotypes

“…Hb analysis of these subjects revealed HbA2 > 3.5% with A2A or A2FA type. The heterozygous β-thalassemia group had 13 different genotypes, including (β N /β À28 ; n ¼ 2) (β N /β 8/9 ; n ¼ 1), (β N /β 17 ; n ¼ 14), (β N /β 19 ; n ¼ 4), (β N /β IVSI#1 ; n ¼ 5), (β N /β IVSI#5 ; n ¼ 2), (β N /β 35 ; n ¼ 1), (β N /β 41/42 ; n ¼ 21), (β N /β 71/72 ; n ¼ 1), (β N /β IVSII#654 ; n ¼ 4), (β N /β 3.5kb ; n ¼ 68), (β N /β 45kb ; n ¼ 18), and (β N /β 60kb ; n ¼ 1). In the third group, 17 samples with heterozygous Hb E (Hb type: EA; Hb E levels of 24.2 AE 5.9) had variable MCV and MCH, whereas DCIP was positive.…”

“…According to Table 1 , Hb analysis showed that the expression levels of HbA2 and HbF in heterozygous large deletional β 0 -thalassemia were higher than those in other β 0 -thalassemia mutations. The high expression of HbA2 and HbF in both types of large deletional β 0 -thalassemia could be described based on the deletion, which shifts the enhancer to nearly its globin genes [ 19 ]. The investigation of 3.5-kb and 45-kb deletion in samples with high Hb A₂ (more than 6%) should be done first, and followed by AS-PCR or sequencing for other mutations.…”