Coinheritance of High Oxygen Affinity Hb Helsinki [HBB: c.248A>T; β82(EF6)Lys→Met] with Hb H Disease.

Abstract

Hb Helsinki [HBB: c.248A>T; β82(EF6)Lys→Met] is a high oxygen affinity hemoglobin (Hb) causing polycythemia, whereas Hb H (β4) disease causes mild to severe chronic hemolytic anemia. The clinical characteristics, gel electrophoresis, capillary electrophoresis (CE) and molecular genotyping of a case of Hb Helsinki coinherited with Hb H disease in an ethnic Malay is described, illustrating the interaction between the β-globin variant and coinheritance of three α gene deletions. The proband was asymptomatic, exhibited microcytosis and a normal with Hb value.

• Authors: Shir-Ying Lee, Jia-Hui Goh, Karen M L Tan, Te-Chih Liu
• Journal: Hemoglobin (Hemoglobin) Vol. 41 Issue 3 Pg. 209-212 (May 2017) ISSN: 1532-432X [Electronic] England
• PMID: 28791912 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hemoglobins, Abnormal
• beta-Globins
• hemoglobin Helsinki

Topics

• Alleles
• Amino Acid Substitution
• DNA Mutational Analysis
• Genotype
• Hemoglobins, Abnormal (genetics)
• Humans
• Inheritance Patterns
• Male
• Middle Aged
• Mutation
• alpha-Thalassemia (diagnosis, genetics)
• beta-Globins (genetics)