Erythroid phenotypes associated with KLF1 mutations
نویسندگان
چکیده
منابع مشابه
Erythroid phenotypes associated with KLF1 mutations.
Department of Applied Biomedical Science, Faculty of Health Sciences, University of Malta; Laboratory of Molecular Genetics, Department of Physiology & Biochemistry, University of Malta, Malta; University of Patras, Department of Pharmacy, University Campus, Patras, Greece; Thalassaemia Clinic, Section of Pathology, Mater Dei Hospital, Msida, Malta; Erasmus MC, Department of Cell Biology; Nethe...
متن کاملTen novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults.
We investigated whether mutations in the KLF1 gene are associated with increased Hb F levels in ethnically diverse patients referred to our laboratory for hemoglobinopathy investigation. Functionally effective KLF1 mutations were identified in 11 out of 131 adult samples with an elevated Hb F level (1.5-25.0%). Eleven different mutations were identified, 9 of which were previously unreported. K...
متن کاملKLF1 gene mutations cause borderline HbA(2).
Increased hemoglobin A(2) (HbA(2); ie, levels > 3.9%) is the most important feature of β-thalassemia carriers. However, it is not uncommon to find persons with borderline HbA(2) (levels, 3.3%-3.8%), who pose a relevant screening problem. Several genotypes have been associated with borderline HbA(2), but sometimes the reasons for this unusual phenotype are unknown. In this paper, we report, for ...
متن کاملCompound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin.
The persistence of high fetal hemoglobin level in adults may ameliorate the clinical phenotype of beta-thalassemia and sickle cell anemia. Several genetic variants responsible for hereditary persistence of fetal hemoglobin, linked and not linked to the beta globin gene cluster, have been identified in patients and in normal individuals. Monoallelic loss of KLF1, a gene with a key role in erythr...
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knowledge of lidocaine and physiology of the human iris, we can only speculate on its mechanism of action and the differences between the subsets observed in our study. Dr. Sodhi has suggested several mechanisms based on a literature review. They are interesting proposals, but to what extent those mechanisms are responsible for the differing effect of lidocaine on pigmented irides, we cannot sa...
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ژورنال
عنوان ژورنال: Haematologica
سال: 2011
ISSN: 0390-6078,1592-8721
DOI: 10.3324/haematol.2011.043265