Hb riccarton [alpha51(CE9)Gly-->Ser]: a variant arising from a novel mutation in the alpha1 gene.

Abstract

Hb Riccarton was identified in a young boy under investigation for fatigue and microcytosis. However, the novel alpha51(CE9)Gly-->Ser mutation did not appear to be the cause of the microcytosis as it was also detected in the boy's father who had normal red cell indices.

• Authors: Stephen O Brennan, Tim Chan, Mary Obele, Peter M George
• Journal: Hemoglobin (Hemoglobin) Vol. 29 Issue 1 Pg. 61-4 ( 2005) ISSN: 0363-0269 [Print] England
• PMID: 15768556 (Publication Type: Journal Article)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Riccarton
• Serine
• Glycine

Topics

• Amino Acid Substitution (genetics)
• Child, Preschool
• Glycine (genetics)
• Hemoglobins, Abnormal (genetics)
• Humans
• Male
• Point Mutation (genetics)
• Serine (genetics)