PDF(Pubmed)
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.
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.
摘要：
未经证实：β-地中海贫血是一种影响单个基因的常见遗传病，在华南地区发病率较高。我们特此,旨在提供中国人群中罕见的β-珠蛋白基因变异的临床和血液学特征。
UNASSIGNED：本研究纳入了来自三个无关中国家庭的10名受试者。进行血液学分析和地中海贫血基因测试以筛选常见的α和β-地中海贫血变体。利用Gap-聚合酶链反应（Gap-PCR）和DNA测序来检查稀有或新型地中海贫血变体。
未经证实：在β-珠蛋白基因中发现了6例携带罕见的IVS-II-806（G>C）（HBB：c.316-45G>C）变体的病例。家族1中的先证者携带三个罕见的β-珠蛋白基因突变，包括CD39（C>T），IVS-II-81(C>T)和IVS-II-806(G>C)结合a--SEA/α缺失,表现出β-地中海贫血性状。进一步的家系调查表明，家族1中先证者的基因型为-SEA/αα，βCD39（C>T），IVS-II-81(C>T)/βIVS-II-806(G>C)。同时,1号家族中携带IVS-II-806(G>C)突变的双胞胎女孩表现出正常的血液学表型.在家庭2中，先证者和他的妹妹携带IVS-II-806（G>C）突变，引起高水平的HbA2和略低的MCV和MCH。此外，携带相同突变的先证者家族3中的MCV水平也略低。
未经批准：在这项研究中，IVS-II-806（G>C）突变的临床和血液学分析首先在中国人群中进行，结果表明它可能是良性变异。
UNASSIGNED：本研究纳入了来自三个无关中国家庭的10名受试者。进行血液学分析和地中海贫血基因测试以筛选常见的α和β-地中海贫血变体。利用Gap-聚合酶链反应（Gap-PCR）和DNA测序来检查稀有或新型地中海贫血变体。
未经证实：在β-珠蛋白基因中发现了6例携带罕见的IVS-II-806（G>C）（HBB：c.316-45G>C）变体的病例。家族1中的先证者携带三个罕见的β-珠蛋白基因突变，包括CD39（C>T），IVS-II-81(C>T)和IVS-II-806(G>C)结合a--SEA/α缺失,表现出β-地中海贫血性状。进一步的家系调查表明，家族1中先证者的基因型为-SEA/αα，βCD39（C>T），IVS-II-81(C>T)/βIVS-II-806(G>C)。同时,1号家族中携带IVS-II-806(G>C)突变的双胞胎女孩表现出正常的血液学表型.在家庭2中，先证者和他的妹妹携带IVS-II-806（G>C）突变，引起高水平的HbA2和略低的MCV和MCH。此外，携带相同突变的先证者家族3中的MCV水平也略低。
未经批准：在这项研究中，IVS-II-806（G>C）突变的临床和血液学分析首先在中国人群中进行，结果表明它可能是良性变异。
