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Hereditary persistence of fetal hemoglobin thalassemia

Known as: HPFH 
National Institutes of Health

Related topics

Related topics

2 relations
HPFH2 gene

Broader (1)

Thalassemia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
Prevalence of β-thalassemia and other haemoglobinopathies in six cities in India: a multicentre study
The population of India is extremely diverse comprising of more than 3,000 ethnic groups who still follow endogamy… 
Highly Cited
2005
Highly Cited
2005
The Corfu δβ thalassemia deletion disrupts γ-globin gene silencing and reveals post-transcriptional regulation of HbF expression Running title: Corfu δβ thalassemia and β-globin regulation
The 7.2 kilobase (kb) Corfu δβ thalassemia mutation is the smallest known deletion encompassing a region upstream of the human… 
Highly Cited
2001
Highly Cited
2001
Diagnosis of hemoglobinopathies: electrophoresis vs. HPLC.
  • C. OuC. Rognerud
  • Clinica chimica acta; international journal of…
  • 2001
  • Corpus ID: 44277492
Review
1993
Review
1993
Increased HbF in adult life.
Considerable advances have been made recently in our understanding of globin gene expression, its developmental regulation and… 
Highly Cited
1990
Highly Cited
1990
Structure and evolution of a human erythroid transcription factor
VERTEBRATE erythroid cells contain a tissue-specific transcription factor referred to as Eryf 1 (ref. 1), GF-1 (ref. 2) or NF-E1… 
1989
1989
Increased Sp1 binding mediates erythroid-specific overexpression of a mutated (HPFH) gamma-globulin promoter.
The -198 T----C mutation in the promoter of the A gamma-globin gene increases 20-30 fold the expression of this gene in adult… 
Highly Cited
1988
Highly Cited
1988
The effects of HPFH mutations in the human gamma-globin promoter on binding of ubiquitous and erythroid specific nuclear factors.
Genetic evidence indicates that single point mutations in the gamma-globin promoter may be the cause of high expression of the… 
Highly Cited
1987
Highly Cited
1987
Association of thalassaemia intermedia with a beta‐globin gene haplotype
We have identified 14 Asian patients with homozygous β° thalassaemia who had a mild clinical disorder related to an augmented… 
Review
1979
Review
1979
Sickle cell anemia as a syndrome: A review of diagnostic features
Sickle cell (SS) disease is a complex of various genetic conditions. In some, homozygosity for the βS gene may be present alone… 
Highly Cited
1975
Highly Cited
1975
Minor hemoglobins in sickle cell anemia, beta-thalassemia, and related conditions: a study of red cell fractions isolated by density gradient centrifugation.
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