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HBA1

hemoglobin subunit alpha 1

gene with protein productOMIM: 1418007 заболеваний
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)5
Hemoglobin Bart's fetalis syndromeORPHA:163596
→
Autosomal dominant secondary polycythemiaORPHA:247511
→
Hemoglobin M diseaseORPHA:330041
→
Hemoglobin H diseaseORPHA:93616
→
Unstable alpha globin chain variant diseaseORPHA:707789
→
Роль в фенотипе2
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16ORPHA:98791
→
Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin geneORPHA:715143
→
Данные: Orphadata (CC-BY-4.0)