A Novel Mutation at HBB: c.91delA (Codon 30, -A) Causing β-Thalassemia in a Chinese Family.

A Novel Mutation at HBB: c.91delA (Codon 30, -A) Causing β-Thalassemia in a Chinese Family. Acta Haematol. 2019 May 20;:1-4 Authors: Jia W, Wang W, Zhu H, Chen P Abstract β-Thalassemia is a genetic disease characterized by the defective synthesis of the hemoglobin tetramer β-globin chains. So far, a number of mutations have been identified and associated with this genetic disease. A high incidence of thalassemia has been found in Guangxi (China). Herein, we report a case of a patient with slightly increased HbA2 levels (4.6%). Based on the clinical data and laboratory findings, the patient was diagnosed with β-thalassemia. Routine genetic screening tests were negative. Sequencing revealed an A deletion at codon 30 (HBB: c.91delA) and the genotype of this patient was βCD30M/β. This mutation changes the splice receptor site of intron 1 from AG to GG, which likely abolishes splicing at the normal 5' splicing site and may cause β0-thalassemia. Based on hematological and clinical evaluations, this novel mutation was regarded as a β0-thalassemia allele. A homozygosity or compound heterozygosity of this mutation and other β0-thalassemia alleles can lead to severe thalassemia disease. PMID: 31108495 [PubMed - as supplied by publisher]
Source: Acta Haematologica - Category: Hematology Authors: Tags: Acta Haematol Source Type: research