Clinical characteristics, laboratory features and genetic profile of hemoglobin E (HBB:c.79 G > A)/β (nucleotide -28 A > G) (HBB:c.-78 A > G) -thalassemia subjects identified from community- and hospital-recruited cohorts

IF 2.1 4区 医学 Q3 HEMATOLOGY
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引用次数: 0

Abstract

Despite several existing laboratory-based studies of hemoglobin (Hb) E (HBB:c.79 G > A)/ β (nucleotide (NT) -28 A > G) (HBB:c.-78 A > G) -thalassemia, no reports have ever provided clinical severity information as well as dependency of blood transfusion. Previously, a comparative study of community- and hospital-recruited Hb E/β-thalassemia subjects was conducted in the lower northern Thailand between June 2020 and December 2021. A mobile medical team visited each community hospital on-site, collecting clinical severity parameters, and conducting Hb and DNA analyses. The control included Hb E/β-thalassemia patients undergoing transfusions. Subgroup study of adult Hb E/β (NT -28 A > G) -thalassemia subjects was subsequently conducted. Additional pediatric individuals were recruited from prenatal diagnosis databases. Twenty adult and nine pediatric subjects were enrolled; all were classified as having mild disease severity. Twenty-two individuals (75.9 %) were asymptomatic. Six adults (20.7 %) required blood transfusion. The mean Hb level of subjects without transfusion (23 [79.3 %]) was 10.77 ± 1.10 g/dL. Hb analysis revealed a distinct EFA pattern with low Hb F fraction. The positive impact of genetic modifiers could not be statistically demonstrated except rs7482144-XmnI. These findings could provide essential information for parents carrying fetuses with Hb E/β (NT -28 A > G) -thalassemia.

从社区和医院招募的队列中确定的血红蛋白 E (HBB:c.79 G > A)/β (核苷酸 -28 A > G) (HBB:c.-78 A > G) - 地中海贫血症受试者的临床特征、实验室特征和遗传特征
尽管现有几项关于血红蛋白(Hb)E(HBB:c.79 G > A)/β(核苷酸(NT)-28 A > G)(HBB:c.-78 A > G)地中海贫血症的实验室研究,但从未有报告提供临床严重程度信息以及输血依赖性。此前,一项针对社区和医院招募的 Hb E/β 地中海贫血症受试者的比较研究于 2020 年 6 月至 2021 年 12 月在泰国北部下游地区进行。一支流动医疗队到各社区医院进行现场访问,收集临床严重程度参数,并进行血红蛋白和 DNA 分析。对照组包括接受输血的 Hb E/β 地中海贫血患者。随后对成年 Hb E/β (NT -28 A > G)地中海贫血患者进行了分组研究。此外,还从产前诊断数据库中招募了其他儿童受试者。共招募了 20 名成人受试者和 9 名儿童受试者;所有受试者均被归类为病情严重程度较轻的患者。22人(75.9%)无症状。六名成人(20.7%)需要输血。没有输血的受试者(23 人 [79.3%])的平均血红蛋白水平为 10.77 ± 1.10 g/dL。血红蛋白分析显示出明显的 EFA 模式,血红蛋白 F 分数较低。除 rs7482144-XmnI 外,遗传修饰因子的积极影响在统计学上无法证实。这些发现可为怀有 Hb E/β (NT -28 A > G)-地中海贫血胎儿的父母提供重要信息。
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来源期刊
CiteScore
4.90
自引率
0.00%
发文量
42
审稿时长
14 days
期刊介绍: Blood Cells, Molecules & Diseases emphasizes not only blood cells, but also covers the molecular basis of hematologic disease and studies of the diseases themselves. This is an invaluable resource to all those interested in the study of hematology, cell biology, immunology, and human genetics.
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