A Rare Case of Abnormal Hemoglobin Variant Hb Mizuho: [HBB: c.206T > C β 68(E12) Leu-Pro]: A First Report in the Chinese Population

Identification of Novel Hb Guiyang [HBA2: c.151C > A α2 50 (CE8) His- Asn] and Phenotype- Genotype Correlation of Abnormal Hemoglobins in Guizhou, Southwest China

“… 21 Although Hb Port Phillip has been documented on HbVar to cause hemoglobin instability due to loss of the heme interface, Hb Port Phillip heterozygotes alone in this study did not have significant manifestations of anemia and were only significantly anemic when combined with -- SEA /αα, consistent with the findings of Du et al 17 Because Hb Port Phillip is rarely reported in the literature, the study of phenotype needs to be further accumulated. From the literature and our previous report, 22 Hb Mizuho caused severe hemolytic anemia because the mutated amino acid affected the binding of distal histidine β63 (E7) to the heme moiety. Relative to clinical management of unexplained anemia, DNA sequencing of the globin gene should be performed to identify the cause even if routine hemoglobin component tests reveal no abnormalities.…”