Haemoglobin H disease due to (--SEA) alpha-globin gene deletion and alpha2-codon 30 (DeltaGAG) mutation: a family study.

Abstract

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.

• Authors: S K Ma, A Y Chan, E K Chiu, L C Chan
• Journal: Clinical and laboratory haematology (Clin Lab Haematol) Vol. 23 Issue 5 Pg. 325-7 (Oct 2001) ISSN: 0141-9854 [Print] England
• PMID: 11703416 (Publication Type: Case Reports, Journal Article)

Chemical References

• Globins

Topics

• Adult
• Family Health
• Female
• Gene Deletion
• Genotype
• Globins (genetics)
• Humans
• Longevity (genetics)
• Male
• Middle Aged
• Mutation
• Pedigree
• Phenotype
• alpha-Thalassemia (genetics)