title: A 6-year-old girl with hemoglobin H disease.
abstract: Hemoglobin H (HbH) disease is the severe nonfatal form of α-thalassemia syndrome. It is usually caused by molecular defects of 3 of 4 α-globin genes (--/-α) which cause α-globin expression to be decreased. HbH disease is rare in Japan. Here, we report on a 6-year-old girl with HbH disease who had profound hypochromatic and microcytic anemia. Analysis of the α-globin genes of the patient's family showed that the father, who was Japanese, had an abnormal gene with a 3.7-kb deletion (-α(3.7)/αα), and the mother, who was Filipino, had a deletion removing both α-globin genes of the Filipino type (--(FIL)/αα). Neither parent had anemia. The patient was found to have HbH disease with a heterozygous genetic abnormality (--(FIL)/-α(3.7)). Recently, the number of marriages of Japanese to natives of areas where thalassemia is epidemic has increased. Therefore, the incidence of HbH disease can be expected to increase in Japan. Long-term follow-up will be needed to evaluate the long-term complications and to improve the quality of life of patients with HbH disease.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan. yuri878t@nms.ac.jp
authors.forename: Takahiro
authors.initials: T
authors.lastname: Ueda
authors.forename: Makoto
authors.initials: M
authors.lastname: Migita
authors.forename: Miho
authors.initials: M
authors.lastname: Yamanishi
authors.forename: Miho
authors.initials: M
authors.lastname: Maeda
authors.forename: Keiko
authors.initials: K
authors.lastname: Harano
authors.forename: Yoshitaka
authors.initials: Y
authors.lastname: Fukunaga
mesh_terms: D002648:Child; D004912:Erythrocytes / Q000473:pathology; D005260:Female; D017353:Gene Deletion; D006447:Hemoglobin H / Q000378:metabolism*; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D007525:Isoelectric Focusing; D055542:alpha-Globins / Q000235:genetics; D017085:alpha-Thalassemia / Q000097:blood / Q000378:metabolism*
chemical_list: D055542:alpha-Globins; D006447:Hemoglobin H