HBG2, hemoglobin subunit gamma 2, 3048

N. diseases: 112; N. variants: 42
Disease: alpha^+^ Thalassemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		0.100 GeneticVariation disease BEFREE In addition, six novel mutations that give rise to α-thalassemia and two rare abnormal hemoglobin variants were first identified in Chinese population. 24055728 2013
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		0.100 GeneticVariation disease BEFREE Co-inheritance of alpha-thalassemia as a phenotype modulating factor was not evident in this study, nor was the presence of the -158 (G)gamma-globin Xmn I polymorphism. 18951049 2009
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		0.100 Biomarker disease BEFREE Expression of betaE and gamma-globin genes in infants heterozygous for hemoglobin E and double heterozygous for hemoglobin E and alpha-thalassemia. 17488699 2007
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		0.100 Biomarker disease BEFREE Southern blot was used for investigating alpha-thalassemia and/or alpha- or gamma-globin genes triplications. 16519704 2006
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		0.100 AlteredExpression disease BEFREE In 17/29 TI patients 'mild' mutations have been found and in 16/29 there are mutations that are associated with increased gamma-globin gene activity. alpha-Thalassaemia is rare and found only in 3/29. 9163586 1997
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		0.100 GeneticVariation disease BEFREE To identify which of these factors may contribute to the modification of childhood homozygous, high-hemoglobin A2 (HbA2) beta-thalassemia in Greece, the interaction of alpha-thalassemia, types of beta-thalassemia mutations, and the presence of a polymorphic site 5' to the G gamma-globin gene, which has been described as associated with increased gamma-globin chain production in some cases, was assessed. 7703040 1995
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		0.100 GeneticVariation disease BEFREE The proband, a 7-year-old girl, exhibited an abnormal hemoglobin electrophoresis pattern with hemoglobin H and hemoglobin Barts, indicating inheritance of H and hemoglobin Barts, indicating inheritance of a severe form of alpha thalassemia. 8193372 1994
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		0.100 Biomarker disease BEFREE During three months, 67.2% of all (748) newborns were screened: 122 (24.3%) had an abnormal hemoglobin pattern, of which 53 (43.4%) had a hemoglobinopathy (HbS or HbC), 64 (52.2%) had alpha-thalassemia (HbBarts greater than 0.5%, corresponding to heterozygous or homozygous alpha-thalassemia-2), and 5 (4.1%) had a hemoglobinopathy plus alpha-thalassemia. 1526026 1992
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		0.100 AlteredExpression disease BEFREE Three factors have now been identified which may result in beta thalassaemia intermedia: the inheritance of mild beta+ thalassaemia mutations, the co-inheritance of alpha thalassaemia and the inheritance of factors enhancing gamma-globin gene expression. 3332112 1987
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		0.100 GeneticVariation disease BEFREE Whereas individuals heterozygous for most alpha-chain mutations possess approximately 25% abnormal hemoglobin, heterozygotes for the alpha-chain variant Hb G Philadelphia synthesize either 33% or 50% Hb G. Both variable gene dosage and interaction with alpha-thalassemia have been proposed to explain this observation. 6935689 1980