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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Last update

21/6/2017

Phenotype: Thalassemias, beta

OMIM: 141900
Inheritance: Autosomal recessive
Classification: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

HBB || c.118C>T (Codon 39, C>T)

Gene/Locus:	HBB
Dna Change:	c.118C>T (Codon 39, C>T)
Protein Change:	p.Gln40X
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 2
Transcript:	NM_000518.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Algeria	NA	NA	27.60%	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23
Morocco	NA	NA	26.58	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23
Tunisia	NA	NA	49.00%	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23

HBB || c.92+2T>G (IVS1+2T>G)

Gene/Locus:	HBB
Dna Change:	c.92+2T>G (IVS1+2T>G)
Protein Change:
Mutation Type:	Substitution
Mutation Effect:	Splice site
Location:	intron 1
Transcript:	NM_000518.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Morocco	NA	NA	3.16%	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23
Tunisia	NA	NA	19.83%	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23

HBB || c.93-21G>A (IVS1+110G>A)

Gene/Locus:	HBB
Dna Change:	c.93-21G>A (IVS1+110G>A)
Protein Change:
Mutation Type:	Substitution
Mutation Effect:	Splice site
Location:	intron 1
Transcript:	NM_000518.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Algeria	NA	NA	26.40%	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23
Morocco	NA	NA	4.70%	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23
Tunisia	NA	NA	21.00%	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23

HBB || c.92+6T>C (IVS1+6T>C)

Gene/Locus:	HBB
Dna Change:	c.92+6T>C (IVS1+6T>C)
Protein Change:
Mutation Type:	Substitution
Mutation Effect:	Splice site
Location:	intron 1
Transcript:	NM_000518.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Algeria	NA	NA	6.20%	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23
Morocco	NA	NA	13.90%	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23
Tunisia	NA	NA	2.48%	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23

HBB || c.25_26delAA (Codon 8, -AA)

Gene/Locus:	HBB
Dna Change:	c.25_26delAA (Codon 8, -AA)
Protein Change:
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 1
Transcript:	NM_000518.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Algeria	NA	NA	0.90%	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23
Morocco	NA	NA	13.91	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23
Tunisia	NA	NA	0.54%	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23

HBB || c.20delA (Codon 6, -A)

Gene/Locus:	HBB
Dna Change:	c.20delA (Codon 6, -A)
Protein Change:	p.Glu7GlyfsX13
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 1
Transcript:	NM_000518.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Algeria	NA	NA	17.10%	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23
Morocco	NA	NA	13.37%	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23
Tunisia	NA	NA	7.02%	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23

HBB || c.316-106C>G (IVS2-745C>G)

Gene/Locus:	HBB
Dna Change:	c.316-106C>G (IVS2-745C>G)
Protein Change:
Mutation Type:	Substitution
Mutation Effect:	Splice site
Location:	intron 2
Transcript:	NM_000518.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Algeria	NA	NA	0.90%	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23
Morocco	NA	NA	7.60%	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23
Tunisia	NA	NA	2.60%	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23

HBB || c.17_18delCT (Codon 5, -CT)

Gene/Locus:	HBB
Dna Change:	c.17_18delCT (Codon 5, -CT)
Protein Change:	p.Pro6ArgfsX17
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 1
Transcript:	NM_000518.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Morocco	NA	NA	1.27%	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23
Tunisia	NA	NA	0.40%	NA	Haj Khelil A et al., 2010Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, . Hemoglobinopathies in North Africa: a review.. Hemoglobin. 2010; 34(1):1-23

HBB || c.23_26dup

Gene/Locus:	HBB
Dna Change:	c.23_26dup
Protein Change:	p.Ser10Glufs*15
Mutation Type:	Duplication
Mutation Effect:	Frameshift
Location:	exon 1
Transcript:	NM_000518.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
France	NA	Nord-Pas-de-Calais	NA	225 years ago (nine generations)	Marchi N et al., 2014Marchi N, Pissard S, Cliquennois M, Vasseur C, Le Metayer N, Mereau C, Jouet JP, Georgel AF, Genin E, Rose C, . Confirmation of a founder effect in a Northern European population of a new β-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA)).. Eur. J. Hum. Genet.. 2014; 0(0):

References

Haj Khelil A, Denden S, Leban N, Daimi H, Lakhdhar R, Lefranc G, Ben Chibani J, Perrin P, Hemoglobinopathies in North Africa: a review.Hemoglobin. 2010; 34(1):1-23

Marchi N, Pissard S, Cliquennois M, Vasseur C, Le Metayer N, Mereau C, Jouet JP, Georgel AF, Genin E, Rose C, Confirmation of a founder effect in a Northern European population of a new β-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA)).Eur. J. Hum. Genet.. 2014; 0(0):

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Thalassemias, beta

References