Background: Hemoglobin H (HbH) disease is alpha thalassemia characterized by inactivation of three of four Î±-globin genes due to deletions with or without non-deletional Î±-thalassemia. Hb Quong Sze (Hb QS) is a very rare non-deletional Î±-thalassemia in Indonesia caused by a CTGLeu>CCGPronucleotide substitution at codon 125 of Î±2 globin gene generating highly unstable hemoglobin. Compound heterozygosity for Hb QS and Southeast Asian double Î±-globin gene deletion (--SEA) result in accumulation of b-globin tetramers, causing hemolytic anemia.
Case Report: A 49 years old Chinese Indonesian female was assessed for thalassemia screening. The phenotype of the proband was normal and only mild anemia was noticeable. She experienced blood transfusion five years ago due to a sudden fall of hemoglobin level after malarial infection. Complete blood count found hemoglobin 8.3 g/dL, Mean Corpuscular Volume (MCV) 65.7 fl and Mean Corpuscular Hemoglobin (MCH) 17.1 pg. HbH disease suggested by abundant Hb H inclusion bodies in the red blood cells. Microcapillary hemoglobin electrophoresis result showed HbH 31.8 %, Hb Bart 0.4%, HbA 67.3% and HbA2 0.5%. Molecular studies were carried out using multiplex polymerase chain reaction (PCR) method, and the common a0-thalassemia(--SEA) was detected in one allele. Direct sequencing analysis of the Î±1 and Î±2 globin genes revealed Hb QS in the other allele.
Conclusion: Non-deletional Hb H disease due to compound heterozygous ofÂ Hb QS with Southeast Asian double Î±-globin gene deletion (--SEA) has a very low incidence in Indonesia. An advanced molecular analysis should be performed to determine this rare mutation.