A novel mutation, HBB: c.393T>G on the HBB gene, was detected in two hypochromic microcytic anemia patients from Yulin, in the Guangxi Province of ......
We report a novel mutation on the beta-globin gene, Hb Hezhou [beta 64(E8)Gly -> Ser; HBB: c.193G>A] that was detected in two unrelated Chinese ......
alpha-Thalassemia (alpha-thal) is one of the most common genetic diseases in Southern China. Although more than 300 alpha-thal mutations have been rep......
Hb A(2) levels are usually high in carriers of beta-thalassemia (beta-thal). These levels also provide a sensitive marker for the identification of he......
We report a rare mutation, HBA2: c.184A>T on the alpha 2-globin gene, detected in a Chinese proband who presented with Hb H disease and a mild anem......
期刊： HEMOGLOBIN, ; ()
We describe a new alpha-globin chain variant in a Chinese subject. This novel variant, with a Val -> Met substitution at codon 93 of the alpha-glob......
期刊： HEMOGLOBIN, ; ()
We detected a novel frameshift variant (HBA1: c.263delA) and - -(SEA) (Southeast Asian), deletion in a 28-year-old Chinese woman with alpha-thalassemi......
期刊： HEMOGLOBIN, ; ()
In this study, we report two novel thalassemia variants detected in Chinese individuals using targeted NGS technology. We detected a novel frameshift ......
期刊： HEMOGLOBIN, ; ()
Anemia is common in patients with systemic lupus erythematosus (SLE). The association between thalassemia and SLE is rare. In this study, we report th......
A female of Chinese origin carried the codon 43 (G>T) (HBB: c.130G > T) and codons 71/72 (+A) (HBB: c.216_217insA) mutations of the beta-globin ......
Although mutations causing alpha-thalassemia (alpha-thal) are mainly larger deletions involving one or both of the duplicated alpha-globin genes, poin......
We report a novel variant found in a female from Guilin municipality in the Guangxi Zhuang Autonomous Region of the People's Republic of China. This v......
As a type of congenital microcytic hypochromic anemia, thalassemia trait is often confused with other conditions, such as congenital sideroblastic ane......
In this study, we report on a compound heterozygote for variants in the key erythroid transcription factor Kruppel-like factor 1 (KLF1) gene in a pati......
Here we report a 67-year-old Chinese male carrying an unstable novel hemoglobin (Hb) variant in compound heterozygosity with the - -(SEA) (Southeast A......
