Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 43, 2019 - Issue 2
137
Views
4
CrossRef citations to date
0
Altmetric
Short Communications

A Krüppel-Like Factor 1 Gene Mutation Ameliorates the Severity of β-Thalassemia: A Case Report

, , , &
Pages 137-139 | Received 23 Mar 2019, Accepted 24 Mar 2019, Published online: 21 May 2019
 

Abstract

Patients with the β00 type of β-thalassemia (β-thal) usually present as β-thal major (β-TM), and are transfusion-dependent. However, the clinical and hematological features of β-thal can be modulated by different modifiers, resulting in a wide range of clinical severity even in patients with the same genotypes. We report a Chinese family with twin brothers, both of whom had the same genotype of β00. One twin was diagnosed as β-TM at 4 months of age and had regularly been transfused; conversely the other twin with a KLF1 (Krüppel-like factor 1) gene mutation, behaved as β-thal intermedia (β-TI), and had never been transfused. Our findings indicate that KLF1 mutations have a role in modulating the phenotypic severity of β-thal. The exact investigation of KLF1 modifiers is necessary in areas where globin gene disorders are most prevalent. This will be helpful in genetic counseling and optimizing the guidelines for prenatal diagnosis (PND) programs.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Log in via your institution

Log in to Taylor & Francis Online

PDF download + Online access

  • 48 hours access to article PDF & online version
  • Article PDF can be downloaded
  • Article PDF can be printed
USD 65.00 Add to cart

Issue Purchase

  • 30 days online access to complete issue
  • Article PDFs can be downloaded
  • Article PDFs can be printed
USD 1,628.00 Add to cart

* Local tax will be added as applicable

Related Research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.