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.
CITATION STYLE
Lorey, F., Charoenkwan, P., Witkowska, H. E., Lafferty, J., Patterson, M., Eng, B., … Chui, D. H. K. (2001). Hb H hydrops foetalis syndrome: A case report and review of literature. British Journal of Haematology, 115(1), 72–78. https://doi.org/10.1046/j.1365-2141.2001.03080.x
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