Abstract:
:Patients with the β0/β0 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 β0/β0. 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.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Xie XM,Liu YN,Li J,Jiang F,Li DZdoi
10.1080/03630269.2019.1607373subject
Has Abstractpub_date
2019-03-01 00:00:00pages
137-139issue
2eissn
0363-0269issn
1532-432Xjournal_volume
43pub_type
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