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Malaysian Journal of Medical Sciences
School of Medical Sciences, Universiti Sains Malaysia
ISSN: 1394-195X
Vol. 16, No. 3, 2009, pp. 23-30
Bioline Code: mj09020
Full paper language: English
Document type: Research Article
Document available free of charge

Malaysian Journal of Medical Sciences, Vol. 16, No. 3, 2009, pp. 23-30

 en Molecular Characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze with a Combine-Amplification Refractory Mutation System
Wee, Yong-Chui; Tan, Kim-Lian; Chua, Kek-Heng; George, Elizabeth & Tan, Jin-Ai Mary Anne


Background: The interaction of the non-deletional α+thalassaemia mutations Haemoglobin Constant Spring and Haemoglobin Quong Sze with the Southeast Asian double α-globin gene deletion results in non-deletional Haemoglobin H disease. Accurate detection of non-deletional Haemoglobin H disease, which is associated with severe phenotypes, is necessary as these mutations have been confirmed in the Malaysian population.

Methods: DNA from two families with Haemoglobin H disease was extracted from EDTA- anticoagulated whole blood and subjected to molecular analysis for α-thalassaemia. A duplex polymerase chain reaction was used to detect the Southeast Asian α-globin gene deletion. Polymerase chain reaction-restriction fragment length polymorphism analysis was then carried out to determine the presence of Haemoglobin Constant Spring and Haemoglobin Quong Sze. A combine- amplification refractory mutation system protocol was optimised and implemented for the rapid and specific molecular characterisation of Haemoglobin Constant Spring and Haemoglobin Quong Sze in a single polymerase chain reaction.

Results and Conclusions: The combine-amplification refractory mutation system for Haemoglobin Constant Spring and Haemoglobin Quong Sze, together with the duplex polymerase chain reaction, provides accurate pre- and postnatal diagnosis of non-deletional Haemoglobin H disease and allows detailed genotype analyses using minimal quantities of DNA.

Combine-ARMS, Hb Constant Spring, Hb Quong Sze

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