Identification of the β thalassemia allele β–50 and analysis of the hematology data of carriers in a southern Chinese population,Annals of Human Genetics

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Identification of the β thalassemia allele β–50 and analysis of the hematology data of carriers in a southern Chinese population
Annals of Human Genetics ( IF 1.9 ) Pub Date : 2021-09-24 , DOI: 10.1111/ahg.12446
Ju Long _{1,

2} , Enqi Liu ₁

Affiliation

During a routine test, we identified a 38-year-old man who had a positive hematology screening result but was negative for hot spot variants of his thalassemia gene. Further analysis identified β^–50 (HBB: c.-100G>A). It was first suggested that β^–50 was a β⁺-thal allele, and some research groups suggested this allele was a silent β-thal allele. To fully understand the hematological phenotype of the β^–50 allele, we screened for individuals carrying β^–50 in the general population and performed hematology analysis on these carriers. A real-time PCR detection system was designed to verify samples carrying β^–50. Twenty-one thousand samples and 43 pedigree samples were screened, and 86 β^–50 carriers were detected. We performed hematological analysis on 65 individuals older than 3 years who had normal serum ferritin and analyzed the data. A total of 34.62% of the β^–50/β^N individuals had mean cellular volume (MCV) or mean cellular hemoglobin (MCH) values slightly lower than the positive cutoff value of screening; the β^–50 carriers’ Hb A₂ value was slightly elevated. According to the test results, β^–50 carriers have slight changes in hematology parameters, including slight decreases in MCV and MCH and slight increases in Hb A₂; however, these effects do not reach the degree of traditional β⁺ alleles. Females with genotype β^–50/β⁰ show a degree of decline in hematological indicators during pregnancy. Therefore, we should describe β^–50 as a β⁺⁺ thalassemia allele, and identification of β^–50 can explain slight changes in hematological indicators in some carriers.

更新日期：2021-09-24

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