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Background: Hemoglobin H (HbH) disease is alpha thalassemia characterized by inactivation of three of four α-globin genes due to deletions with or without non-deletional α-thalassemia. Hb Quong Sze (Hb QS) is a very rare non-deletional α-thalassemia in Indonesia caused by a CTG>CCG nucleotide substitution at codon 125 of α 2 globin gene generating highly unstable hemoglobin. Compound heterozygosity for Hb QS and Southeast Asian double α-globin gene deletion (--) result in accumulation of b-globin tetramers, causing

A rare case of Hb H disease caused by compound heterozygous for Î± thalasemia and Hb Quong Sze in Chinese Indonesian proband: a case report