Abstract
OBJECTIVE: Presentation of a novel case of a patient with Hb Bart's hydrops fetalis, which was accurately identified by SMRT sequencing leading to expand the mutation spectrum of α-thalassemia. CASE REPORT: A 26-year-old pregnant woman and her husband underwent molecular analysis of thalassemia due to abnormal hematological results. The molecular analysis showed that the pregnant woman carried -α(3.7)/--(SEA), while her husband exhibited a negative result. Accordingly, the pregnant woman continued the pregnancy until the 19-week gestational age. She was subsequently referred to our department for genetic counseling due to abnormal ultrasound findings in the fetus. A novel deletional α-thal mutation was detected for the husband by MLPA, and the precise location of the mutation was determined through SMRT sequencing, which revealed a 45.2 kb deletion. Later, an interventional umbilical cord blood puncture was offered for the pregnant woman. The cord blood was subjected to capillary electrophoresis, which revealed apparent Hb Bart's and Hb Portland peaks associated with Hb Bart's hydrops fetalis syndrome. CONCLUSION: It is imperative that Hb Bart's hydrops fetalis syndrome be diagnosed with the utmost expediency. If results of molecular analysis are not consistent with the clinical hematological findings, the presence of a novel thalassemia could be suspected. To identify the novel genotype, the SMRT sequencing represents an effective method for achieving an accurate diagnosis.