Objective To explore the mutation characteristics of HB Quong Sze. Methods A 5-year-old boy was suspected with thalassemia and had a hemoglobin of 113 g/L, a mean corpuscular volume of 66.5 fl and a mean hemoglobin content of 21.6 pg. The PCR was used to detect 3 common forms of alpha-thalassemia and 17 beta-thalassemia genes , and no abnormalities were found. Then the next-generation sequencing was used for gene detection and verification. Results A heterozygous mutation of α thalassemia, HBA2 c.377T > C, was detected in the patient, which came from the father, and HB Quong Sze was confirmed. Conclusion Next-generation sequencing can diagnose HB Quong Sze type thalassemia which has no abnormalities in conventional genetic testing.
王莉,王雄,鲁艳军,等
. Diagnosis of a heterozygous HB Quong Sze by next-generation sequencing: one case report[J]. Journal of Clinical Pediatrics, 2019
, 37(12)
: 924
.
DOI: 10.3969/j.issn.1000-3606.2019.12.012