×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
GeneticVariation
CLINVAR
Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
26635043 2016
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Abnormal processing of beta Knossos RNA.
6733281 1984
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Two missense mutations in the beta-globin gene can cause severe beta thalassemia. Hemoglobin Medicine Lake (beta 32[B14]leucine-->glutamine; 98 [FG5] valine-->methionine).
7860732 1995
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Hemoglobinopathies in North Africa: a review.
20113284 2010
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Prenatal and newborn screening for hemoglobinopathies.
23590658 2013
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Molecular basis of HbE-beta-thalassemia and the origin of HbE in northeast Thailand: identification of one novel mutation using amplified DNA from buffy coat specimens.
1974422 1990
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Characterisation and confirmation of rare beta-thalassaemia mutations in the Malay, Chinese and Indian ethnic groups in Malaysia.
17008283 2006
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Oxygen affinity in hemoglobin Köln disease.
5059650 1972
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
High prevalence of the beta-thalassaemia nonsense 37 mutation in Catalonians from the Ebro delta.
1520612 1992
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
GeneticVariation
CLINVAR
The -87 (C----A) beta(+)-thalassemia mutation in a black family.
1428943 1992
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
A significant beta-thalassemia heterogeneity in the United Arab Emirates.
9140720 1997
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Hb Osler [beta 145(HC2)Tyr-->Asp] results from posttranslational modification.
9101280 1997
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Thalassemia intermedia: moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element.
2018842 1991
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
A new beta-thalassemia mutation (initiation codon ATG----GTG) found in the Japanese population.
1686262 1991
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Molecular characterization of seven beta-thalassemia mutations in Asian Indians.
6714226 1984
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Percentages of abnormal hemoglobins in adults with a heterozygosity for an alpha-chain and/or a beta-chain variant.
6859036 1983
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Molecular analysis of β-thalassemia patients: first identification of mutations HBB:c.93-2A>G and HBB:c.114G>A in Brazil.
21797703 2011
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
GeneticVariation
CLINVAR
The association of Hb Khartoum [beta124(H2)Pro-->Arg] with gamma+-thalassemia is responsible for hemolytic disease in the newborn of a Sudanese family.
10081984 1999
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
GeneticVariation
CLINVAR
HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server.
11857738 2002
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Rare and unexpected mutations among Iranian beta-thalassemia patients and prenatal samples discovered by reverse-hybridization and DNA sequencing.
12368169 2002
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype.
8111050 1994
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
A new frameshift beta zero-thalassemia mutation (codons 27-28 +C) found in a Chinese family.
1850955 1991
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo.
3403716 1988
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
The molecular heterogeneity of beta-thalassemia in Greece.
18096416 2008
×
Entrez Id: 3043
Gene Symbol: HBB
HBB
Hemoglobinopathies
0.500
CausalMutation
CLINVAR
Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey.
27207683 2016