A Case of Hereditary Spherocytosis Caused by a Novel Homozygous Mutation in the SPTB Gene Misdiagnosed as β-Thalassemia Intermedia Due to a KLF1 Gene Mutation
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DOI: 10.1080/03630269.2019.1620764
Abstract: Abstract We report a rare case of hereditary spherocytosis (HS) and hereditary persistence of fetal hemoglobin (Hb) (HPFH) complicated with a β-thalassemia (β-thal) trait and a Krüppel-like factor 1 (KLF1) gene mutation misdiagnosed as β-thal… read more here.
Keywords: klf1 gene; case hereditary; hereditary spherocytosis; gene mutation ... See more keywords
A KLF1 gene mutation causes β‐thalassemia minor in a Chinese family
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DOI: 10.1111/ijlh.12788
Abstract: Sir, Krüppellike factor 1 (KLF1) is an erythroidspecific transcription factor that plays important roles in globin gene switching, erythroid lineage commitment, and erythrocyte maturation.1 Not surprisingly, the downstream effects of KLF1 mutations can result in… read more here.
Keywords: klf1 gene; family; mutation causes; gene mutation ... See more keywords
Alterations on high HbF levels may be associated with KLF1 gene mutations.
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DOI: 10.14715/klf1;
Abstract: The KLF1 gene synthesizes a transcription factor in the zinc finger structure that regulates the transcription of β-, γ-globin, and Foxm1 genes. This factor plays an important role in the erythropoiesis mechanism by modifying the… read more here.
Keywords: high hbf; hbf; globin gene; klf1 gene ... See more keywords