HBB
hemoglobin subunit beta
Ассоциированные заболевания
Герминативная мутация (причина)27
Sickle cell anemiaORPHA:232
→Autosomal dominant secondary polycythemiaORPHA:247511
→Hereditary persistence of fetal hemoglobin-sickle cell disease syndromeORPHA:251380
→Sickle cell S-D Punjab diseaseORPHA:251370
→Sickle cell S-E diseaseORPHA:251375
→Sickle cell S-C diseaseORPHA:251365
→Hemoglobin C diseaseORPHA:2132
→Hemoglobin E diseaseORPHA:2133
→Hemoglobin E-beta-thalassemia syndromeORPHA:231249
→Hemoglobin C-beta-thalassemia syndromeORPHA:231242
→Delta-beta-thalassemiaORPHA:231237
→Unstable beta globin chain variant diseaseORPHA:231226
→Beta-thalassemia intermediaORPHA:231222
→Beta-thalassemia majorORPHA:231214
→Hemoglobin M diseaseORPHA:330041
→Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeORPHA:46532
→Hemoglobin D diseaseORPHA:90039
→Hemoglobin E-beta-thalassemia majorORPHA:715128
→Hemoglobin E-beta-thalassemia intermediaORPHA:715125
→Low oxygen affinity beta chain hemoglobin diseaseORPHA:715157
→Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin geneORPHA:715143
→Sickle cell-beta plus-thalassemiaORPHA:695147
→Sickle cell-beta zero-thalassemiaORPHA:695140
→Sickle cell S-Lepore diseaseORPHA:699822
→Sickle cell S-O Arab diseaseORPHA:700090
→Homozygous hemoglobin O Arab diseaseORPHA:700111
→Sickle cell S-other specified hemoglobin variantORPHA:700107
→