Hb H hydrops foetalis syndrome: a case report and review of literature

Haemoglobin H (Hb H) disease is caused by deletion or inactivation of three α‐globin genes, leaving only one intact and active α‐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 α‐globin gene point mutation (codon 35 TCC→CCC or Serine→Proline) and an α‐thalassaemia deletion of the Filipino type removing all ζ‐α‐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.

Hb H hydrops foetalis syndrome: a case report and review of literature Journal Articles