{Reference Type}: Journal Article
{Title}: A First Clinical and Molecular Study of Rare IVS-II-806 (G > C) (HBB:c.316-45G > C) Variant in the β-globin Gene: A Possibly Benign Variant.
{Author}: Zhuang J;Luo Q;Zeng S;Chen Y;Lin S;Wang Y;Jiang Y;
{Journal}: Indian J Hematol Blood Transfus
{Volume}: 39
{Issue}: 1
{Year}: Jan 2023
{Factor}: 0.915
{DOI}: 10.1007/s12288-022-01555-9
{Abstract}: UNASSIGNED: β-thalassemia is a common genetic disease affecting a single gene, disease with a high incidence in South China. We hereby, aim to provide the clinical and hematological features of a rare β-globin gene variant in the Chinese population.
UNASSIGNED: Ten subjects from three unrelated Chinese families were enrolled in this study. Hematological analysis and thalassemia gene testing were preformed to screen for common α and β-thalassemia variants. Gap-polymerase chain reaction (Gap-PCR) and DNA sequencing were utilized to examine the rare or novel thalassemia variants.
UNASSIGNED: Six cases were identified carrying the rare IVS-II-806 (G > C) (HBB:c.316-45G > C) variant in the β-globin gene. The proband in family 1 carry three rare β-globin gene mutations including CD39 (C > T), IVS-II-81 (C > T) and IVS-II-806 (G > C) combined with a --SEA/αα deletion, exhibiting the β-thalassemia trait. Further pedigree investigation indicated that the genotype of the proband in family 1 was --SEA/αα, βCD39 (C>T), IVS-II-81(C>T)/βIVS-II-806(G>C). Meanwhile, the twin girls in family 1 carrying the IVS-II-806 (G > C) mutation demonstrated a normal hematological phenotype. In family 2, the proband and his sister carry the IVS-II-806 (G > C) mutation, eliciting high levels of Hb A2 and slightly low levels of MCV and MCH. Moreover, the proband in family 3 carrying the same mutation exhibited a slightly low MCV level as well.
UNASSIGNED: In this study, clinical and hematological analysis of the IVS-II-806 (G > C) mutation was first conducted within the Chinese population, with results indicating that it may be a benign variant.