Journal
HEMOGLOBIN
Volume 47, Issue 4, Pages 172-179Publisher
TAYLOR & FRANCIS LTD
DOI: 10.1080/03630269.2023.2263365
Keywords
Thalassemia; iron deficiency anemia; pregnancy; next-generation sequencing; HBA1
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This study reported the identification and functional analysis of two rare alpha-thalassemia silent carriers with novel HBA1 mutations. The research highlighted the importance of gestational thalassemia screening and increased our understanding of the relationship between genotype and phenotype of alpha-thalassemia.
We reported the identification of two rare alpha-thalassemia silent carriers with novel HBA1 mutations of CD 39 -C [Thr > Pro] (HBA1: c.114del; p.Thr39Profs*11) and CD 109 ACC > CCC [Thr > Pro] (HBA1: c.325A > C; p. Thr109Pro), respectively. The two probands were pregnant women diagnosed with mild hypochromic anemia or microcytic hypochromic anemia by routine blood tests. They started iron therapy before taking differential diagnosis from iron deficiency anemia. After wait and watch approach, they both accepted thalassemia genetic screening, which identified CD 39 -C [Thr > Pro] and CD 109 ACC > CCC [Thr > Pro], respectively. Due to inappropriate iron therapy, worse anemia and iron overload were noticed in the first proband, but no obvious side effect was found in both probands. Functional analysis showed that, relative to the wild type, CD 39 -C [Thr > Pro] considerably reduced the expression of the HBA1 protein while CD 109 ACC > CCC [Thr > Pro] only had a minor impact. Our study highlighted the importance of gestational thalassemia screening based on next-generation sequencing for identifying novel rare thalassemia variants and increased our understanding about the relationship between genotype and phenotype of alpha-thalassemia.
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