Compound Heterozygosity for a Novel Mutation Codon 104 (-A) (HBB: c.313delA) and Codons 41/42 (-CTTT) (HBB: c.126_129delCTTT) Leading to β-Thalassemia Major in a Chinese Family.

Abstract

β-Thalassemia (β-thal) is a hereditary blood disorder characterized by the reduced or absent synthesis of β-globin chains. Here, we report a case of severe thalassemia with compound heterozygosity for a novel deletion mutation at codon 104 (-A) (HBB: c.313delA) and codons 41/42 (-CTTT) (HBB: c.126_129delCTTT) on the β-globin gene (HBB), and a coinheritance of the -α4.2 (leftward) deletion on the α-globin gene cluster. The proband was a 12-year-old boy, and four other family members were involved in this study. This novel frameshift mutation caused classical β-thal trait in the heterozygote and a transfusion-dependent form of β-thal major (β-TM) in compound heterozygosity with other β0 mutations.

• Authors: Yuling Qiu, Yuanyuan Huang, Ping Chen, Shilu Wei, Qisheng Su, Zunni Zhang, Zheng Yang, Lihua Ye, Jun Huang, Xuelian Shen, Wuning Mo
• Journal: Hemoglobin (Hemoglobin) Vol. 44 Issue 6 Pg. 402-405 (Nov 2020) ISSN: 1532-432X [Electronic] England
• PMID: 33198537 (Publication Type: Case Reports, Journal Article)

Chemical References

• Codon
• beta-Globins

Topics

• Alleles
• Amino Acid Substitution
• Asian People (genetics)
• Child
• China
• Codon
• DNA Mutational Analysis
• Erythrocyte Indices
• Exons
• Female
• Frameshift Mutation
• Heterozygote
• Humans
• Male
• Mutation
• Pedigree
• beta-Globins (genetics)
• beta-Thalassemia (diagnosis, genetics)