生物
小细胞性贫血
TMPRSS6
转铁蛋白饱和度
表型
海西定
铁蛋白
贫血
转铁蛋白
复合杂合度
遗传学
缺铁
发育不良
基因
免疫学
血红蛋白
内科学
内分泌学
医学
生物化学
血清铁蛋白
丝氨酸蛋白酶
炎症
蛋白酶
酶
作者
Pankaj Sharma,Prateek Bhatia,Minu Singh,Reena Das,Savita Verma Attri,Niharendu Ghara,Lashkari Harsha Prasada,Amita Trehan
出处
期刊:Gene
[Elsevier]
日期:2024-02-01
卷期号:895: 147981-147981
标识
DOI:10.1016/j.gene.2023.147981
摘要
The study highlights genomic findings in a series of 13 IRIDA phenotype cases. All had microcytic hypochromic anemia with suboptimal oral iron response to two different oral iron preparations at 4-6 weeks and low-normal ferritin, low transferrin saturation, and inappropriately high hepcidin. Targeted NGS on a 26-gene iron panel revealed pathogenic TMPRSS6 variants in 5/13 (38%) cases. In addition, 2 (15%) cases revealed rare SMAD4 and TBXAS1 gene variants that can present with refractory anemia but were consistent with diagnosis of hereditary hemorrhagic telangiectasia and Ghosal hematodiaphyseal dysplasia respectively.
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