The Molecular Basis of β Thalassemia, δβ Thalassemia, and Hereditary Persistence of Fetal Hemoglobin

Thein, Swee Lay; Wood, W. G.

doi:10.1017/cbo9780511596582.023

Cited by 51 publications

(51 citation statements)

References 206 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…These defects account for the vast majority of the b-thalassemia alleles (Thein and Wood 2009). They include single base substitutions, small insertions, or deletions within the gene or its immediate flanking sequences and affect almost every known stage of gene expression (Fig.…”

Section: Nondeletion Forms Of B-thalassemiamentioning

confidence: 99%

The Molecular Basis of -Thalassemia

Thein

2013

Cold Spring Harbor Perspectives in Medicine

304

189

View full text Add to dashboard Cite

The b-thalassemias are characterized by a quantitative deficiency of b-globin chains underlaid by a striking heterogeneity of molecular defects. Although most of the molecular lesions involve the structural b gene directly, some down-regulate the gene through distal cis effects, and rare trans-acting mutations have also been identified. Most b-thalassemias are inherited in a Mendelian recessive fashion but there is a subgroup of b-thalassemia alleles that behave as dominant negatives. Unraveling the molecular basis of b-thalassemia has provided a paradigm for understanding of much of human genetics.

show abstract

Section: Nondeletion Forms Of B-thalassemiamentioning

confidence: 99%

The Molecular Basis of -Thalassemia

Thein

2013

Cold Spring Harbor Perspectives in Medicine

304

189

View full text Add to dashboard Cite

show abstract

“…All patients, and many of the parents, had unexplained increased levels of HbF, which could have been linked to a deletion or deletions involving the b-globin locus. 25 However, we excluded the possibility of mutations lying within the cis-regulatory regions involved in g-globin gene expression using multiplex-ligation probe assays and sequencing analysis (supplementary Figure 3 and supplementary Table 3). …”

Section: Analysis Of Structural Proteins Commonly Mutated In Red Cellmentioning

confidence: 99%

Mutations in Krüppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression

Viprakasit¹,

Ekwattanakit

Riolueang

et al. 2014

Blood

View full text Add to dashboard Cite

show abstract

“…The coinheritance of α + and α 0 thalassemia leads to a condition called "Hb H disease," a hemolytic anemia of variable severity, whereas, as described earlier, the homozygous state for α 0 thalassemia causes stillbirths. Equally rapid progress was made in cloning and sequencing genes for the β thalassemias (24)(25)(26)(27)(28). This work was aided by the earlier observation that globin genes of normal individuals have a limited number of polymorphic restriction enzyme sites (that is, haplotypes).…”

Section: Further Developments In Hemoglobin Genetics and The Evolutiomentioning

confidence: 99%

A Journey in Science: Early Lessons from the Hemoglobin Field

Weatherall

2014

Mol Med

View full text Add to dashboard Cite

Real innovations in medicine and science are historic and singular; the stories behind each occurrence are precious. At Molecular Medicine we have established the Anthony Cerami Award in Translational Medicine to document and preserve these histories. The monographs recount the seminal events as told in the voice of the original investigators who provided the crucial early insight. These essays capture the essence of discovery, chronicling the birth of ideas that created new fields of research; and launched trajectories that persisted and ultimately influenced how disease is prevented, diagnosed, and treated. In this volume, the Cerami Award Monograph is by David J Weatherall, Founder, Weatherall Institute of Molecular Medicine, Oxford University, John Radcliffe Hospital. A visionary in the field of hemoglobin, this is the story of Professor Weatherall's scientific journey.

show abstract

The Molecular Basis of β Thalassemia, δβ Thalassemia, and Hereditary Persistence of Fetal Hemoglobin

Cited by 51 publications

References 206 publications

The Molecular Basis of -Thalassemia

The Molecular Basis of -Thalassemia

Mutations in Krüppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression

A Journey in Science: Early Lessons from the Hemoglobin Field

Contact Info

Product

Resources

About