IthaID: 3275

Names and Sequences

Functionality:	Globin gene causative mutation
Common Name:	(αα)ALT	HGVS Name:	N/A
Hb Name:	N/A	Protein Info:	N/A

Comments: The deletion removes only the the major α-globin regulatory element MCS-R2 (HS-40 site). The deletion extends from position chromosome 16g.103,193 to 106,553 removing 3361 bp. In addition, an insertion of 39 bp bridging the deletion breakpoints was observed possibly resulting from a complex rearrangement involving two fragments of DNA from chromosome 3.

External Links

No available links

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	N/A
Size:	3.361 kb
Deletion involves:	HS40

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	α-thalassaemia
Allele Phenotype:	N/A
Associated Phenotypes:	N/A

Other details

Type of Mutation:	Deletion
Ethnic Origin:	Portuguese
Inheritance:	Recessive
DNA Breakpoint Determined:	Yes
Detection Methods:	Gap-PCR, MLPA

Sequence Viewer

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Publications / Origin

Ferrão J, Silva M, Gonçalves L, Gomes S, Loureiro P, Coelho A, Miranda A, Seuanes F, Reis AB, Pina F, Maia R, Kjöllerström P, Monteiro E, Lacerda JF, Lavinha J, Gonçalves J, Faustino P, Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia., Ann. Hematol. , 96(11), 1921-1929, 2017 PubMed

Created on 2017-11-08 20:29:58, Last reviewed on (Show full history)

A/A	Date	Curator(s)	Comments
1	2017-11-08 20:29:58	The IthaGenes Curation Team	Created

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