IthaID: 2190

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 62-83 (+65 bp)	HGVS Name:	HBB:c.187_251dup
Hb Name:	N/A	Protein Info:	N/A

Also known as:

Comments: The 65bp duplication found in 30-year old man combined with heterozygous -α4.2 thalassemia, αααanti3.7 triplication and the common δ globin variant HbA2’, with clinical presentation of a β0- thalassemia carrier. The high reticulocyte count (6.3%) and minimal splenomegaly are the only indications that this duplication could even lead towards a more severe phenotype. The duplication introduces a stop codon twenty-six amino acids further down the new reading frame leading to a truncated β chain of only 106 residues.

External Links

HbVar

LOVD

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	β-thalassaemia
Allele Phenotype:	β0
Associated Phenotypes:	Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	70911
Size:	65 bp
Located at:	β

Other details

Type of Mutation:	Duplication
Ethnic Origin:	Ghanaian
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

Sequence Viewer

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Publications / Origin

Frischknecht H, Dutly F, A 65 bp duplication/insertion in exon II of the beta globin gene causing beta0-thalassemia., Haematologica , 92(3), 423-4, 2007 PubMed

Created on 2013-09-30 17:07:53, Last reviewed on 2021-01-20 10:04:13 (Show full history)

A/A	Date	Curator(s)	Comments
1	2013-09-30 17:07:53	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2015-01-08 16:06:31	The IthaGenes Curation Team	Reviewed. Common name corrected.
4	2015-12-07 11:28:13	The IthaGenes Curation Team	Reviewed. Mutation type corrected
5	2017-01-24 12:53:57	The IthaGenes Curation Team	Reviewed. DNA Info updated.
6	2020-07-09 13:30:43	The IthaGenes Curation Team	Reviewed. HGVS name, Chromosome and locus location corrected. Comments added.
7	2020-07-09 13:32:15	The IthaGenes Curation Team	Reviewed.
8	2020-07-09 13:33:29	The IthaGenes Curation Team	Reviewed.
9	2020-07-09 13:56:15	The IthaGenes Curation Team	Reviewed. Common name corrected.
10	2021-01-20 10:04:13	The IthaGenes Curation Team	Reviewed. Common name and locus location corrected.

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