Hemolytic disease of the newborn caused by a new deletion of the entire beta-globin cluster.

Pirastu, Mario; Kan, Yuet Wai; Lin, C. C.; Baine, Rosalie M.; Holbrook, C T

doi:10.1172/jci111008

Cited by 35 publications

(19 citation statements)

References 22 publications

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“…The normal recognition sites for these enzymes must have been deleted from the thalassemic chromosome, and the novel fragments Although this deletion resembles the previous cases of 'ybfthalassemia in that an extensive deletion affects the fl-globin gene cluster, it differs from them in several respects. First, a large portion of the f3-globin gene cluster remains intact, whereas most or all of the fl-globin gene cluster is deleted in the previously described cases (9)(10)(11)(12)(13)(14)(15) (Fig. 6).…”

Section: Methodsmentioning

confidence: 75%

“…To date, the molecular defects responsible for this disorder have all involved extensive deletions of most or all of the f3-globin gene cluster. In three of the previously described cases, the deletion encompasses the entire fl-globin gene cluster, including all or part of the f3-globin gene itself, and inactivates all the f3-globin-like genes in cis (9,10,14,15). In a fourth and perhaps most interesting case, the E-, G7_, Ay-, and 6-globin genes are deleted, whereas the fl-globin gene and 2.5 kilobases (kb) of 5' flanking sequence remain intact.…”

Section: Introductionmentioning

confidence: 95%

“…Less commonly, ,B-thalassemia is caused by gene deletion. Deletions affecting the ,B-globin gene cluster result in the syndromes of (3-thalassemia (4), hereditary persistence of fetal hemoglobin (Hb)' (5-8), 6fl-thalassemia (7,8), and -ybfthalassemia (9)(10)(11)(12)(13)(14)(15). The structural genes are usually inactivated by the deletion, although an exception has been described in one case of y6yl-thalassemia (11,12).…”

Section: Introductionmentioning

confidence: 99%

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A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia.

Curtin¹,

Pirastu²,

Kan³

et al. 1985

J. Clin. Invest.

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108

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We describe an English family with an atypical 'yS6-thalassemia syndrome. Heterozygosity results in a ft-thalassemia phenotype with normal hemoglobin A2. However, unlike previously described cases, no history of neonatal hemolytic anemia requiring blood transfusion was obtained. Gene mapping showed a deletion that extended from the third exon of the G-yglobin gene upstream for -100 kilobases (kb). The Ay-globin, #(3-, 5-, and fl-globin genes in cis remained intact. The malfunction of the fl-globin gene on a chromosome in which the deletion is located 25 kb away suggests that chromatin structure and conformation are important for globin gene expression.

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Section: Methodsmentioning

confidence: 75%

Section: Introductionmentioning

confidence: 95%

Section: Introductionmentioning

confidence: 99%

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A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia.

Curtin¹,

Pirastu²,

Kan³

et al. 1985

J. Clin. Invest.

Self Cite

108

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“…The molecular defect (termed Anglo-Saxon deletion; Fig 3) was subsequently characterized as a deletion of nearly 96 kb that extended approximately 50 kb upstream of the e-gene and terminating in the second exon of the b-globin gene (Orkin et al, 1981). Since then, 11 different deletions causing ecdbthalassaemia (Fig 3) have been discovered (Van der Ploeg et al, 1980;Fearon et al, 1983;Pirastu et al, 1983;Curtin et al, 1985;Taramelli et al, 1986;Diaz-Chico et al, 1988;Driscoll et al, 1989;Trent et al, 1990;Fortina et al, 1991;Abels et al, 1996;Game et al, 2003;Harteveld et al, 2003). All, except for one deletion (Pirastu et al, 1983;Trent et al, 1990), are unique and several appear to be de novo.…”

Section: Family 3 (Deletion English Iv)mentioning

confidence: 99%

Heterogeneity of the ɛγδβ‐thalassaemias: characterization of three novel English deletions

et al. 2005

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Heterogeneity of the ecdb-thalassaemias: characterization of three novel English deletionsThe thalassaemias are inherited disorders classified genetically into a,b,c,db,d and ecdb varieties according to the type of globin(s) that are under-produced (Weatherall & Clegg, 2001). ecdb-thalassaemias are all caused by deletions of the b-globin gene cluster on chromosome 11p. At the molecular level, the deletions fall into two categories: group I removes all, or a greater part of the b-globin cluster, including the b-globin gene. Group II removes extensive upstream regions leaving the b-globin gene itself intact despite which, its expression is silenced because of inactivation of the upstream b-locus control region (b-LCR) (Grosveld et al, 1993). However, because of incomplete sequence data, the breakpoints of many of the early deletions have not been characterized. Recently, two novel deletions causing ecdb-thalassaemia have been reported; a 153 kb deletion removing the entire b-globin cluster (group I) in a Chilean family (Game et al, 2003), and an upstream deletion of 112 kb (group II) in a Dutch family (Dutch III) (Harteveld et al, 2003). The present study describes the characterization of three novel ecdb-thalassaemia deletions, in three English families, named English II, III and IV, to differentiate them from the previously reported English (I) deletion (Curtin et al, 1985).English II removes 98 kb extending from 8 kb upstream of the G c-globin gene, thus leaving the G c, A c and b-genes intact.English III and IV remove the entire b-globin cluster including several flanking olfactory receptor (HOR) genes. English IV removes more than 400 kb of this region of chromosome 11p and is the largest deletion reported so far. Although in later life, heterozygotes for ecdb-thalassaemia have a blood picture typical of b-thalassaemia trait but with normal A 2 levels, our

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“…At the molecular level the disorder is due to a heterogenous array of large deletions of the /3-globin gene complex (2)(3)(4)(5)(6). This complex resides within 80 kilobases (kb) on the short arm of chromosome 11 and is structurally arranged and developmentally expressed in the order of 5' 8--IyAy-8.…”

mentioning

confidence: 99%

Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites.

Driscoll

Dobkin

Alter

1989

Proc. Natl. Acad. Sci. U.S.A.

223

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ySip-Thalassemia is a rare disorder of hemoglobin biosynthesis, characterized molecularly by partial or complete deletions of the 13-globin gene complex of 100 kilobases (kb) or greater. Common to all mutants described has been the deletion of the most-5' sequences of the .8-globin complex. We have used the techniques of pulsed-field gel electrophoresis and polymerase chain reaction to study a patient with a clinical y6f3-thalassemia phenotype. This subject developed a de novo deletion on a maternally inherited fi-globin gene chromosome involving -30 kb of sequences 5' to the e gene; the deletion extends from -9.5 kb to -39 kb 5' of E and includes three of the four DNase I hypersensitive sites (at -10.9 kb, -14.7 kb, and -18 kb 5' of e). The remaining sequences of the fi-globin complex, including the DNase I hypersensitive sites at -6

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Hemolytic disease of the newborn caused by a new deletion of the entire beta-globin cluster.

Cited by 35 publications

References 22 publications

A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia.

A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia.

Heterogeneity of the ɛγδβ‐thalassaemias: characterization of three novel English deletions

Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites.

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