/Hb Bart's hydrops fetalis

Hb Bart's hydrops fetalis

Rare Disease

MONDO:0015579

Also Known As

Alpha-thalassemia majorHBA1;HBA2 digenic quadallelic Hb Bart’s hydrops fetalisHaemoglobin Bart's hydrops fetalisHb Bart’s hydrops fetalis caused by quadallelic variation in HBA1;HBA2Hb Bart’s hydrops fetalis related to quadallelic variation in HBA1 and HBA2Hemoglobin Bart's hydrops fetalisalpha-thalassemia hydrops fetalishomozygous alpha0-thalassemia

Definition

Alpha thalassemia caused by variation in all four copies of the alpha hemoglobin genes (e.g., homozygous deletion encompassing HBA1 and HBA2).

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External Resources

Orphanet

Orphanet:163596 ↗

GARD

GARD:16992 ↗

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hemoglobin H disease

MONDO:0013512

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HBA1; HBA2-related digenic alpha thalassemia spectrum

MONDO:0100564

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