Hemoglobin H disease
Hemoglobin H disease
Definition
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, haemoglobin H disease, deletional and nondeletional, HBA1;HBA2 digenic triallelic hemoglobin H disease, HBH, HbH disease, hemoglobin H disease, hemoglobin H disease caused by triallelic variation in HBA1;HBA2, hemoglobin H disease related to triallelic variation in HBA1 and HBA2, hemoglobin H disease, deletional, hemoglobin H disease, deletional and nondeletional — per MONDO