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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

Identification of the β thalassemia allele β–50 and analysis of the hematology data of carriers... 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/βN 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annals of Human Genetics Wiley

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 , Volume Early View – Sep 24, 2021

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Publisher
Wiley
Copyright
© 2021 John Wiley & Sons Ltd/University College London
ISSN
0003-4800
eISSN
1469-1809
DOI
10.1111/ahg.12446
Publisher site
See Article on Publisher Site

Abstract

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/βN 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.

Journal

Annals of Human GeneticsWiley

Published: Sep 24, 2021

Keywords: Beta++ thalassemia; HBB:c.‐100G>A; hematological analysis; Southern China; Thalassemia

References