Molecular and hematological characterization of hemoglobin Hope/hemoglobin E and hemoglobin Hope/alpha-thalassemia 2 in Thai patients.

Abstract

We report the hematological and molecular characterization of compound heterozygosity for hemoglobin (Hb) Hope/Hb E and double heterozygosity for Hb Hope/ alpha-thalassemia 2 found in 2 unrelated Thai individuals. The first proband presented with slight anemia and mild hypochromic microcytosis. Routine cellulose acetate Hb electrophoresis at pH 8.6 revealed in addition to Hb E another variant migrating slightly more anodic to Hb A. On cation exchange high-pressure liquid chromatography, the variant was eluted in the amount of 60.9% after Hb E The same abnormal Hb was found in a second family in which the proband and her younger sister were both double heterozygotes for this Hb variant and deletional alpha-thalassemia 2, whereas an older sister was a pure carrier of the variant. The amounts of this variant were found to be 34.9%, 35.4%, and 38.3% in the proband, her younger sister, and her older sister, respectively. Direct DNA sequencing of the amplified beta-globin genes of both probands identified the GGT (Gly)-GAT (Asp) mutation at codon 136 corresponding to Hb Hope. beta-Globin gene haplotype analysis demonstrated that all the Thai betaHope genes were associated with the same haplotype, (+ - - - - + +), indicating a single origin of this variant in Thailand. A simple method based on allele-specific polymerase chain reaction for accurate diagnosis of the Hb Hope is described.

• Authors: Sunisa Chunpanich, Supan Fucharoen, Kanokwan Sanchaisuriya, Goonnapa Fucharoen, Kasian Kam-itsara
• Journal: Laboratory hematology : official publication of the International Society for Laboratory Hematology (Lab Hematol) Vol. 10 Issue 4 Pg. 215-20 ( 2004) ISSN: 1080-2924 [Print] United States
• PMID: 15697092 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobins, Abnormal
• Hemoglobin E
• hemoglobin Hope

Topics

• Adult
• Chromatography, High Pressure Liquid
• DNA Mutational Analysis
• Electrophoresis
• Family Health
• Female
• Haplotypes
• Hemoglobin E (genetics)
• Hemoglobinopathies (diagnosis)
• Hemoglobins, Abnormal (genetics)
• Heterozygote
• Humans
• Mutation, Missense
• Pedigree
• Pregnancy
• Thailand
• alpha-Thalassemia (genetics)