AI Article Synopsis

  • The study focuses on the α-globin fusion gene, crucial for thalassemia screening, which can lead to severe conditions when paired with α-thalassemia.
  • Researchers analyzed blood samples suspected of containing this gene in southern China, confirming 266 cases from 2017 to 2023, primarily in Hainan province and Guangzhou.
  • Findings indicate that while carriers of the fusion gene may not show symptoms, individuals with the α-globin fusion gene (αα)/ experience anemia, highlighting its prevalence in the Li minority and the need for genetic counseling.

Article Abstract

Objective: The α-globin fusion gene between the and genes, is clinically important in thalassemia screening because this fusion gene can cause severe hemoglobin (Hb) H disease when combined with α -thalassemia (α -thal). In this study, we evaluate the red blood cell parameters of α-thalassemia fusion gene in southern China.

Method: Study samples suspected of α-thalassemia fusion gene were collected and confirmed by PCR-sequencing from one medical lab center in southern China. Their genotypes and phenotypes were analyzed.

Results: A total of 266 cases of α-thalassemia fusion gene were confirmed in our lab from 2017 to 2023, most of them were from Hainan province (169 cases) and Huadu district of Guangzhou (21 cases), the nationality of 143 cases from Hainan was identified, with 71.3% (102/143) being from the Li minority. The Hb, MCV, MCH for αα/(αα) in adult males were 143.5±11.83g/L, 81.51±4.39 fl, and 26.26±1.29 pg, respectively; and in females, they were 126.69±12.89 g/L, 80.10±4.05 fl, 25.8±2.04 pg, respectively. All 12 cases (αα) / -- showed anemia with decreased Hb, MCV and MCH.

Conclusion: The carriers of α-globin fusion gene heterozygotes are clinically silent and exhibit an α phenotype. Individuals with (αα)/ show apparent anemia. This α-globin fusion gene is relatively common in southern China, specifically among the Li minority of Hainan province. Therefore, it should be taken into account for genetic counseling purposes.

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http://dx.doi.org/10.1080/16078454.2024.2399361DOI Listing

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