Hemoglobin H disease

MONDO:0013512

Alpha thalassemia caused by variation in three of the four copies of the alpha hemoglobin genes (e.g., large deletion in HBA1 and HBA2 genes in trans with a variant in either HBA1 or HBA2).

Also known as: Alpha-thalassemia intermedia, HBA1;HBA2 digenic triallelic hemoglobin H disease, HBH, HbH, HbH disease, alpha-thalassemia intermedia, haemoglobin H disease, deletional and nondeletional, hemoglobin H disease

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