Genetic and phenotypic analysis of a rare case with homozygous Chinese Gγ(Aγδβ)0-thal deletion

Objective To analyze the genotype of a patient suspected for thalassemia through a series of experiments. Methods Conventional 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. Results The patient was identified as a homozygote for Chinese Gγ(Aγδβ)0-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. Conclusion The Chinese Gγ(Aγδβ)0-thal is prevalent in southern China, and caution should be taken to avoid misdiagnosis. The Gap-PCR system for detecting Chinese Gγ(Aγδβ)0-thal is suitable for extended applications for its simplicity and rapidity. Key words: Deletional thalassemia; Chinese Gγ(Aγδβ)0-thal mutation; Thalassemia