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

Authors

  • Fred Lorey,

    1. Genetic Disease Branch,
      California Department of Health Services, Berkeley, CA, USA,
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  • Pimlak Charoenkwan,

    1. Provincial Haemoglobinopathy Laboratory,
      and Department of Pathology and Molecular Medicine, McMaster University Faculty of Health Sciences, Hamilton, ON, Canada,
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    • *

      Present address: Hospital for Sick Children, Toronto, ON, Canada.

  • H. Ewa Witkowska,

    1. Children's Hospital Oakland Research Institute, Oakland, and
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    • Present address: Applied Biosystems, Foster City, CA, USA.

  • John Lafferty,

    1. Provincial Haemoglobinopathy Laboratory,
      and Department of Pathology and Molecular Medicine, McMaster University Faculty of Health Sciences, Hamilton, ON, Canada,
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  • Margaret Patterson,

    1. Provincial Haemoglobinopathy Laboratory,
      and Department of Pathology and Molecular Medicine, McMaster University Faculty of Health Sciences, Hamilton, ON, Canada,
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  • Barry Eng,

    1. Provincial Haemoglobinopathy Laboratory,
      and Department of Pathology and Molecular Medicine, McMaster University Faculty of Health Sciences, Hamilton, ON, Canada,
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  • John S. Waye,

    1. Provincial Haemoglobinopathy Laboratory,
      and Department of Pathology and Molecular Medicine, McMaster University Faculty of Health Sciences, Hamilton, ON, Canada,
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  • Jerry Z. Finklestein,

    1. Memorial Miller Children's Hospital,
      Long Beach and Department of Paediatrics, University of California at Los Angeles, Los Angeles, CA, USA
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  • David H. K. Chui

    1. Provincial Haemoglobinopathy Laboratory,
      and Department of Pathology and Molecular Medicine, McMaster University Faculty of Health Sciences, Hamilton, ON, Canada,
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David H.K. Chui, MD, Department of Pathology and Molecular Medicine, Room 2N31, McMaster University Medical Centre, 1200 Main Street West, Hamilton, ON L8N 3Z5, Canada. E-mail: chuid@mcmaster.ca

Abstract

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.

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