携带KLF1突变的α地中海贫血携带者中HbA2和HbF的变化。

Changes in HbA2 and HbF in alpha thalassemia carriers with KLF1 mutation.

作者信息

Satta Stefania, Paglietti Maria Elisabetta, Sollaino Maria Carla, Barella Susanna, Moi Paolo, Desogus Maria Franca, Demartis Franca Rosa, Manunza Laura, Origa Raffaella

机构信息

Dipartimento di Scienze Mediche e Sanità Pubblica, Università degli Studi di Cagliari, Ospedale Microcitemico, Cagliari, Italy; Ospedale Microcitemico "A.Cao" - A.O. Brotzu, Cagliari, Italy.

Dipartimento di Scienze Mediche e Sanità Pubblica, Università degli Studi di Cagliari, Ospedale Microcitemico, Cagliari, Italy.

出版信息

Blood Cells Mol Dis. 2017 May;64:30-32. doi: 10.1016/j.bcmd.2017.03.007. Epub 2017 Mar 18.

DOI:10.1016/j.bcmd.2017.03.007

PMID:28342932

Abstract

α-thalassemia carriers are common in Mediterranean regions, particularly in the Sardinian population. Their haematological phenotype is characterized by reduced MCV and/or MCH with normal or slightly reduced HbA2 levels and normal HbF. Krüppel-like factor 1 (KLF1) is a pleiotropic erythroid transcription factor that is essential for haematopoiesis. Mutations in the KLF1 gene trigger a series of benign human red blood phenotypes, such as an increase in HbA2 and HBF. Recently, it has been found that KLF1 mutations were a frequent cause of borderline HbA2 levels in a group of Sardinian subjects. Here, we found that KLF1 mutations modulate the phenotype in a cohort of α-thalassemia carriers.

摘要

α地中海贫血携带者在地中海地区很常见，尤其是在撒丁岛人群中。他们的血液学表型特征是平均红细胞体积（MCV）和/或平均红细胞血红蛋白含量（MCH）降低，血红蛋白A2（HbA2）水平正常或略有降低，胎儿血红蛋白（HbF）正常。Krüppel样因子1（KLF1）是一种多效性红系转录因子，对造血至关重要。KLF1基因突变会引发一系列良性人类红细胞表型，如HbA2和HbF增加。最近，人们发现KLF1突变是一组撒丁岛受试者中HbA2水平临界的常见原因。在此，我们发现KLF1突变可调节α地中海贫血携带者队列中的表型。