The Impact of Region-of-Interest Selection on MRI T2* Quantification of Hepatic Iron Overload in Thalassemia Major [0.03%]
interest选择对MRI T2*定量测定血红蛋白病肝铁过载的影响
Bahareh Shahraki,Alireza Montazerabadi,Majid ValiZadeh et al.
Bahareh Shahraki et al.
Accurate quantification of hepatic iron overload is essential for managing patients with thalassemia major to prevent severe complications such as liver and cardiac failure. Magnetic resonance imaging (MRI) T2* has emerged as the noninvasiv...
Hb Yongning [β1 (NA1) Val→Leu; HBB:C.4G > C]: A Novel Hemoglobin Variant Causing Significant Interference in Common Glycated Hemoglobin Assays [0.03%]
Yongning正定血红蛋白[β1（NA1）Val→Leu；HBB：C.4G>C]：一种新型血红蛋白变异体，对常见糖化血红蛋白检测造成显著干扰
Li Liang,Yongguang Du,Lihong Zheng et al.
Li Liang et al.
We report a novel β-globin chain variant identified in a proband who is also a carrier of β-thalassemia. Glycated hemoglobin analysis revealed an elevated Hb A1c level of 20.34% using high-performance liquid chromatography (HPLC), while t...
Rare Coexistence of Hemoglobin D-Iran and Hemoglobin S in a Case from Central India [0.03%]
中央印度一例罕见的Hemoglobin D-Iran和Hemoglobin S共存案例报告
Priya Rani,Amol Moon,Umesh Dhumne et al.
Priya Rani et al.
The hemoglobin variant, Hb D-Iran (HBB:c.67G > C), is a rare structural hemoglobinopathy mainly reported from Iran and Pakistan, with only limited documentation in India. Although usually clinically silent in the heterozygous state, it may ...
Case Reports
Hemoglobin. 2025 Nov;49(6):435-438. DOI:10.1080/03630269.2025.2596205 2025
Nonsense Variant in the β-Spectrin Gene Causing Hereditary Spherocytosis Identified by Whole-Exome Sequencing in a Child [0.03%]
全外显子组测序鉴定β-光谱蛋白基因 nonsense突变导致遗传性球形红细胞增多症一例
Ai- Yang,Ti-Long Huang,Chun-Yan Song et al.
Ai- Yang et al.
Hereditary spherocytosis (HS) is an inherited disease characterized by the presence of spherical erythrocytes in the peripheral blood. Beta-spectrin (SPTB) encodes a cytoskeletal protein previously associated with spherocytosis. Mutations i...
Case Reports
Hemoglobin. 2025 Nov;49(6):439-443. DOI:10.1080/03630269.2025.2596949 2025
Identification of a Rare β-Globin Chain Hemoglobin Variant: HBB: C.24G > C (Glu7Asp) [0.03%]
一种罕见的β-球蛋白链血红蛋白变异体的鉴定:HBB:C.24G>C( Glu7Asp)
Qianmei Zhuang,Meizhen Yan,Chunqiang Liu et al.
Qianmei Zhuang et al.
We report the identification and characterization of a rare hemoglobin variant resulting from a mutation in the β-globin chain gene. The case involved a 36-year-old Han Chinese woman who was initially identified through a routine blood tes...
Identification of a Patient with Transfusion-Dependent β-Thalassemia Caused by Compound Heterozygous Mutations of HBB: C.84_85insC and Common Linked Intronic Variants in HBB [0.03%]
HBβ珠蛋白基因内含子常见联体变异与编码区插入突变引起的需要输血的β-地中海贫血一例报告
Lang Qin,Xinyu Li,Yin Wang et al.
Lang Qin et al.
Severe forms of β-thalassemia are typically autosomal recessive disorders characterized by hemolytic anemia, jaundice, and hepatosplenomegaly. More than 300 variants in the β-globin gene cluster have been reported, revealing a complex gen...
A Cross-Sectional Study on Pain and Quality of Life of Adult Patients with Transfusion-Dependent Thalassemia in a Tertiary Hospital In Malaysia [0.03%]
马来西亚一家三级医院输血依赖性地中海贫血成人患者的疼痛和生活质量的横断面研究
Phaik Hoon Tee,Tuan Mazlelaa Tuan Mahmood,Shirlyn Tan
Phaik Hoon Tee
Pain has emerged as a potential complication in thalassemia but its management has not been optimized. This study assessed the prevalence of pain and its association with QoL in adult patients with transfusion-dependent thalassemia (TDT). A...
Comparison of Sickle Solubility Test with Mass Spectrometry for Hemoglobin S Confirmation [0.03%]
用于确认血红蛋白S的镰刀溶解试验与质谱法比较研究
Aruna Rangan,Michelle Savedra,Rachel Kandler et al.
Aruna Rangan et al.
Predicting the Double Heterozygotes of HbE and α-Thalassemia-1 (Southeast Asian Type) Using RapidMiner-Generated Hematologic Algorithm [0.03%]
使用RapidMiner生成的血细胞参数算法预测HbE与海洋性贫血-1（东南亚型）双杂合子
Thanusak Tatu,Saitarn Klasamut,Hathaikan Sorntham et al.
Thanusak Tatu et al.
Double heterozygotes of HbE and α-Thalassemia-1 (Southeast Asian type) ((βA/βE, - -SEA/αα) can result in severe thalassemia conditions, such as HbE/β-thalassemia (βE/βT)) and Hb Bart's hydrops fetalis syndrome (- -SEA/- -SEA). Ident...
Genetic Analysis and Clinical Relevance of HBA1:c.305T > C (Leu > Pro): A Novel Variant Linked to α-Thalassemia [0.03%]
HBA1:c.305T > C(Leu>Pro)遗传分析及其与α-地中海贫血的临床相关性研究
Linju Zhou,Xiaoyan Huang,Wanghua Xiao et al.
Linju Zhou et al.
α-Thalassemia is a common genetic disorder marked by a reduced synthesis of α-globin chains, leading to varying degrees of anemia. In this study, we describe a novel variant, HBA1:c.305T > C (Leu > Pro), identified through next-generation...