A 25-year observation of a Japanese female patient with Hb Nottingham who has two children with the same disorder.
We undertook a 25-year observation of a female patient with an unstable variant, Hb Nottingham or β98(FG5)Val→Gly, GTG>GGG. The proband was diagnosed with Hb Nottingham at the age of 9 years. Splenectomy was performed in order to successfully aid her height growth due to chronic anemia at the age of 11, although anemia improvement was transient. She experienced pregnancy/delivery twice, at age 23 and 26, respectively. During both pregnancies, a large number of nucleated red blood cells (NRBCs) appeared in her peripheral blood. No developmental delay of the fetus was noted in either pregnancy, and she gave birth without any maternal complications or perinatal problems. Both babies were diagnosed with Hb Nottingham. To the best of our knowledge, this is the first report of a long-term observation of a proband with Hb Nottingham, including her pregnancy/delivery and the neonatal course of her children with the same disorder.
Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan. ymcho@med.hokudai.ac.jp
Yuko
Y
Cho
Susumu
S
Iizuka
Yoshio
Y
Hatae
Kunihiko
K
Kobayashi
Yukio
Y
Hattori
Yasuhiro
Y
Yamashiro
Tadashi
T
Ariga
D000328:Adult; D000740:Anemia / Q000175:diagnosis / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002648:Child; D005260:Female; D005500:Follow-Up Studies; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007223:Infant; D007564:Japan; D011247:Pregnancy
D006455:Hemoglobins, Abnormal; C075791:hemoglobin Nottingham