Prenatal diagnosis of a rare β‐thalassemia gene －90 (C>T) (HBB: c.‐140 C>T) mutation associated with deletional Hb H disease (‐‐SEA/‐α 4.2)
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1472
Abstract: Hemoglobin H (Hb H) disease can be caused by compound heterozygosity for two different mutations or from homozygotes for mutations, and conventional genetic methods may lead to misdiagnosis when Hb H disease is combined with… read more here.
Keywords: rare thalassemia; diagnosis rare; thalassemia gene; disease ... See more keywords
The population incidence of thalassemia gene variants in Baise, Guangxi, P. R. China, based on random samples
Sign Up to like & getrecommendations! Published in 2022 at "Hematology"
DOI: 10.1080/16078454.2022.2119736
Abstract: ABSTRACT Objective Thalassemia is a monogenic genetic disorder with a high prevalence in populations in the southern region of China. The thalassemia gene prevalence rate in the Baise population in China is high, and several… read more here.
Keywords: thalassemia gene; gene variants; thalassemia; detection ... See more keywords