Molecular identification of hereditary persistence of fetal hemoglobin type 2 (HPFH type 2) in patients from Brazil

1995 ◽  
Vol 70 (3) ◽  
pp. 159-161 ◽  
Author(s):  
M. S. Gonçalves ◽  
S. Fahel ◽  
M. S. Figueiredo ◽  
E. J. Kimura ◽  
F. Nechtman ◽  
...  
Keyword(s):  
Molecular Identification ◽  
Fetal Hemoglobin ◽  
Hemoglobin Type ◽  
Hereditary Persistence

Molecular identification of hereditary persistence of fetal hemoglobin type 2 (HPFH type 2) in patients from Brazil

1995 ◽  
Vol 70 (3) ◽  
pp. 159-161
Author(s):  
M. S. Gon�alves ◽  
S. Fahel ◽  
M. S. Figueiredo ◽  
E. J. Kimura ◽  
F. Nechtman ◽  
...  
Keyword(s):  
Molecular Identification ◽  
Fetal Hemoglobin ◽  
Hemoglobin Type ◽  
Hereditary Persistence

scholarly journals Featured Article: Modulation of fetal hemoglobin in hereditary persistence of fetal hemoglobin deletion type-2, compared to Sicilian δβ-thalassemia, by BCL11A and SOX6-targeting microRNAs

2016 ◽  
Vol 242 (3) ◽  
pp. 267-274 ◽  
Author(s):  
Thais A Fornari ◽  
Carolina Lanaro ◽  
Dulcinéia M Albuquerque ◽  
Regiane Ferreira ◽  
Fernando F Costa
Keyword(s):  
Cell Function ◽  
Quantitative Polymerase Chain Reaction ◽  
Globin Gene ◽  
Fetal Hemoglobin ◽  
Regulation Of Transcription ◽  
Phenotypic Differences ◽  
Large Deletions ◽  
Globin Chains ◽  
Hereditary Persistence

Hereditary persistence of fetal hemoglobin deletion type-2 (HPFH-2) and Sicilian-δβ-thalassemia are conditions described as large deletions of the human β-like globin cluster, with absent β-globin chains and a compensatory variable increase in γ-globin. HPFH, in general, may be distinguished from DB-Thalassemia by higher fetal hemoglobin (HbF) levels, absence of anemia and hypochromic and microcytic erythrocytes. MicroRNAs (miRNAs) regulate a range of cellular processes including erythropoiesis and regulation of transcription factors such as the BCL11A and SOX6 genes, which are related to the regulation of γ-globin expression. In this report, a possible association among the overexpression of miRNAs and the expression of the γ-globin gene was analyzed in these two conditions. Forty-nine differentially expressed miRNAs were identified by microarrays in CD34+-derived erythroid cells of two subjects heterozygous for Sicilian-δβ-thalassemia, 2 for HPFH-2 and 3 for controls after 13 days of culture. Some of these miRNAs may participate in γ-globin gene regulation and red blood cell function. The BCL11A gene was found to be potentially targeted by 12 miRNAs that were up-regulated in HPFH-2 or in DB-Thal. A down-regulation of BCL11A gene expression in HPFH-2 was verified by quantitative polymerase chain reaction. These data suggest an important action for miRNA that may partially explain the phenotypic differences between HPFH-2 and Sicilian δβ-thalassemia and the increased expression of γ-globin in these conditions.

scholarly journals CORRESPONDENCE

Blood ◽  
1963 ◽  
Vol 22 (4) ◽  
pp. 506-506
Keyword(s):  
Fetal Hemoglobin ◽  
Adequate Explanation ◽  
Hand Column ◽  
Right Hand ◽  
On Line ◽  
Hereditary Persistence ◽  
The Right

Abstract A portion of Dr. C. Lockard Conley’s letter in the August issue of BLOOD appeared garbled due to omission of some type. On page 235, the sentence beginning on line 22 of the right-hand column, and the following sentence, should have read as follows: A similar mechanism may be involved in hereditary persistence of fetal hemoglobin. An overlapping deletion involving contiguous loci provides a simple and adequate explanation for the occurrence of this anomaly.

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