Fig. 1From: Exon sequencing of the alpha-2-globin gene for the differential diagnosis of central cyanosis in newborns: a case reporta The mutation underlying heterozygous hemoglobin M Boston [HBA2:c.175C > T, p.59His > Tyr] was detected through sequencing only in the proband. b It was not present in his parents. The analysis demonstrated a de novo mutation occurrenceBack to article page