| Autor: |
Ma SK; Haematology Section, Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China. eskma@hkucc.hku.hk, Chan AY, Chiu EK, Chan LC |
| Jazyk: |
angličtina |
| Zdroj: |
Clinical and laboratory haematology [Clin Lab Haematol] 2001 Oct; Vol. 23 (5), pp. 325-7. |
| DOI: |
10.1046/j.1365-2257.2001.00411.x |
| Abstrakt: |
A Chinese family in which two siblings suffer from haemogloblin (Hb) H disease due to (--SEA) alpha-globin gene deletion and alpha2-codon 30 (DeltaGAG) mutation is described. Both siblings are transfusion-independent and have survived to adulthood. In contrast to previous report of hydrops fetalis associated with zeta-alpha-thal-1 and alpha2-codon 30 (DeltaGAG) mutation, the zeta-globin genes are intact in the two siblings, which most probably alleviates the gamma-chain excess and protects the fetus from severe anaemia. Correlation of genotype with phenotype in Hb H disease is important for genetic counselling, especially in the antenatal setting. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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