title: Hb H hydrops foetalis syndrome: a case report and review of literature.
abstract: Haemoglobin H (Hb H) disease is caused by deletion or inactivation of three alpha-globin genes, leaving only one intact and active alpha-globin gene. People with Hb H disease usually have moderate anaemia, but are generally thought to be asymptomatic. Some Hb H disease patients require transfusions, and there are reports of fetuses with Hb H disease who have severe anaemia in utero resulting in fatal hydrops foetalis syndrome. We now report a case of Hb H hydrops foetalis syndrome, caused by the inheritance of a hitherto novel alpha-globin gene point mutation (codon 35 TCC-->CCC or Serine-->Proline) and an alpha-thalassaemia deletion of the Filipino type removing all zeta-alpha-globin genes on the other chromosome 16. The infant was delivered prematurely because of pericardial effusion and fetal distress, and was found to have severe anaemia and congenital anomalies. A review of the relevant literature on this syndrome is presented, and serves to underscore the phenotypic variations of Hb H disease and the need for surveillance for this condition among newborns and genetic counselling in communities with a high proportion of at-risk populations.
authors.affiliation: Genetic Disease Branch, California Department of Health Services, Berkeley, CA, USA.
authors.forename: F
authors.initials: F
authors.lastname: Lorey
authors.forename: P
authors.initials: P
authors.lastname: Charoenkwan
authors.forename: H E
authors.initials: HE
authors.lastname: Witkowska
authors.forename: J
authors.initials: J
authors.lastname: Lafferty
authors.forename: M
authors.initials: M
authors.lastname: Patterson
authors.forename: B
authors.initials: B
authors.lastname: Eng
authors.forename: J S
authors.initials: JS
authors.lastname: Waye
authors.forename: J Z
authors.initials: JZ
authors.lastname: Finklestein
authors.forename: D H
authors.initials: DH
authors.lastname: Chui
mesh_terms: D001483:Base Sequence; D003062:Codon; D017353:Gene Deletion; D005835:Genitalia / Q000002:abnormalities*; D005914:Globins / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D015160:Hydrops Fetalis / Q000150:complications* / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D015997:Neonatal Screening; D010375:Pedigree; D017354:Point Mutation; D013577:Syndrome; D017085:alpha-Thalassemia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics
chemical_list: D003062:Codon; D005914:Globins