OBJECTIVETo analyze the genotype of a patient suspected for thalassemia through a series of experiments.

METHODSConventional methods for detecting common thalassemia mutations was used in conjunction with multiplex ligation-dependent probe amplification (MLPA) in order to determine the genotype of the patient. Corresponding primers were designed for developing a Gap-PCR system for detecting rare type mutations.

RESULTSThe patient was identified as a homozygote for Chinese Gγ(Aγδβ)-thal deletion, with clinical manifestations tending to be intermediate or severe based on the hematological characteristics. A Gap-PCR system has been developed for detecting the above mutation with accuracy and rapidity.

CONCLUSIONThe Chinese Gγ(Aγδβ)-thal is prevalent in southern China, and caution should be taken to avoid misdiagnosis. The Gap-PCR system for detecting Chinese Gγ(Aγδβ)-thal is suitable for extended applications for its simplicity and rapidity.