| Autor: |
F, Lorey, P, Charoenkwan, H E, Witkowska, J, Lafferty, M, Patterson, B, Eng, J S, Waye, J Z, Finklestein, D H, Chui |
| Rok vydání: |
2001 |
| Předmět: |
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| Zdroj: |
British journal of haematology. 115(1) |
| ISSN: |
0007-1048 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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