Hämoglobin F- und Hämoglobin A&lt;sub&gt;2&lt;/sub&gt;-Vermehrung bei der Schweizer Bevölkerung

Marti, H.R.; Bütler, R.

doi:10.1159/000206642

Cited by 26 publications

(9 citation statements)

References 3 publications

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“…In the early 1960s, R.H. Marti and colleagues (Marti, 1963; Marti & Butler, 1961) reported what initially appeared first to be a new form of HPFH. A small group of healthy 19‐year old recruits to the Swiss army had abnormally high HbF levels linked with the presence of distinct, HbF‐carrying red blood cells in the peripheral blood, which was heritable (Fig 1A).…”

Section: Hereditary Persistence Of Foetal Haemoglobinmentioning

confidence: 99%

Discovering the genetics underlying foetal haemoglobin production in adults

Thein¹,

Menzel²

2009

Br J Haematol

179

139

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Summary Sickle cell disease (SCD) and β thalassaemia, caused by lesions that affect the HBB (β globin gene), form the most common human genetic disorders world‐wide, and represent a major public health problem. Inter‐individual variation in foetal haemoglobin (HbF) expression is a known and heritable disease modifier; high HbF levels are correlated with reduced morbidity and mortality in both diseases. This review traces our progress in the understanding of the persistence of HbF in adults as a quantitative trait and the genetic approaches used in teasing out the loci contributing to its variability in normal populations and in patients with haemoglobinopathies. Three major loci – Xmn1‐HBG2 single nucleotide polymorphism, HBS1L‐MYB intergenic region on chromosome 6q, and BCL11A– contribute 20–50% of the trait variance in patients with sickle cell anaemia and healthy European Caucasians. It is likely that the remaining trait variance is due to numerous other loci, many contributing modest effects. Identification of the three major loci has not yet been translated into new therapeutic approaches for HbF reactivation but an immediate application would be an improved prediction of one’s ability to produce HbF, which in turn, may improve prediction of disease severity.

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Section: Hereditary Persistence Of Foetal Haemoglobinmentioning

confidence: 99%

Discovering the genetics underlying foetal haemoglobin production in adults

Thein¹,

Menzel²

2009

Br J Haematol

179

139

View full text Add to dashboard Cite

show abstract

“…␥ Chain typing in HbF was performed by HPLC [15]. LPLC was used to quantify HbA 2 [16]. The presence of HbS was confirmed by the sickling test.…”

Section: Hematological Studiesmentioning

confidence: 99%

Spectrum of β thalassemia mutations and HbF levels in the heterozygous Moroccan population

et al. 2003

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“…The average ratio of Technical difficulties in the isolation of 0.5-1.0% Hb-F from 99-99.5% adult hemoglobins have limited the investigation of Hb-F in the normal adult. Data are available, however, from three normal adult females (AD, NB, and GD) and from two adult members of a Swiss family (IF and LL) as well as from three adult members of a Negro family (SR, ER, and RR) in which slightly elevated levels of Hb-F have been observed [14,24] (Table II). The mean value for glycyl residues is 0.38 (range 0.23-0.55) and for alanyl residues 2.71 (range 2.52-2.99).…”

Section: Discussionmentioning

confidence: 99%

“…A few milliliters of blood were also placed in EDTA for hematologic analyses. Smaller volumes (50-100 ml in EDTA) were obtained from other adults: two Caucasian individuals from one family with slightly elevated Hb-F percentage [24], three members of a Negro family with a comparable elevation of Hb-F [14], and five patients with Hb-SC disease [38].…”

Section: Source Of Blood Samplesmentioning

confidence: 99%