HBD, hypophosphatemic bone disease, 100187828

N. diseases: 17; N. variants: 0
Disease: beta Thalassemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.020 GeneticVariation disease BEFREE Coinherited HBD mutation lowers Hb A<sub>2</sub> and can cause a misidentification of a beta-thalassemia carrier. 30309760 2019
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.020 GeneticVariation disease BEFREE The phenotype of increased Hb A2 typical of beta-thalassaemia (beta-thal) carriers can be reduced to normal or borderline values because of the co-inheritance of a delta-globin gene (HBD, MIM #142000) mutation, which may lead to misinterpretation of diagnostic results. 17916081 2007