First Report of a Chinese Family Carrying a Double Heterozygosity for Hb Q-Thailand and Hb J-Bangkok.

Abstract

The double heterozygosity for α and β chain variants leads to the formation of abnormal heterodimer hybrids, which could render laboratory diagnostics in a routine setting difficult. The following is the first report of a double heterozygosity for Hb Q-Thailand [α74(EF3)Asp→His; HBA1: c.223G>C] with α+-thalassemia (α+-thal) and Hb J-Bangkok [β56(D7)Gly→Asp; HBB: c.170G>A] found in a Chinese family. Both subjects were healthy with normal or borderline hematological parameters. Hemoglobin (Hb) analyses showed a novel variant, Hb Q-Thailand and Hb J-Bangkok. Family studies helped in the initial recognition and in making presumptive diagnoses, but definitive diagnoses of these cases with complex α and β chain variants could only be obtained after DNA analysis.

• Authors: Fan Jiang, Jian-Ying Zhou, Jin-Mei Yan, Yue-Cheng Lu, Dong-Zhi Li
• Journal: Hemoglobin (Hemoglobin) Vol. 40 Issue 6 Pg. 425-427 (Nov 2016) ISSN: 1532-432X [Electronic] England
• PMID: 28361593 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hemoglobins, Abnormal
• alpha-Globins
• beta-Globins
• hemoglobin Q Thailand
• Hemoglobin J
• hemoglobin J Bangkok

Topics

• Adult
• Asian People (genetics)
• Diagnosis, Differential
• Female
• Hemoglobin J (genetics)
• Hemoglobinopathies (diagnosis)
• Hemoglobins, Abnormal (genetics)
• Heterozygote
• Humans
• Male
• Middle Aged
• Nuclear Family
• Pedigree
• Phenotype
• alpha-Globins (genetics)
• beta-Globins (genetics)