[Molecular diagnosis for a novel deletion mutation of α thalassemia].

Abstract

OBJECTIVE:

To raise awareness of the pathogenesis and diagnosis of thalassemia by reporting one case of α thalassemia patient with a large deletion fragment and analyzing the pedigree.

METHODS:

Firstly, blood cells and hemoglobin electrophoresis analysis were used for screening of thalassemia, and then three common kinds of deletional α thalassemia in Chinese was detected by Gap-PCR, three common kinds of non- deletional α thalassemia and seventeen common mutations of β thalassemia in Chinese were analyzed by using PCR- RDB. The unknown mutation of samples was identified with Multiplex Ligation-dependent Probe Amplification (MLPA) and DNA sequencing.

RESULTS:

The proband female presented with microcytic hypochromic anemia(hemoglobin 71 g/L, mean corpuscular volume 52.4 fl, mean corpuscular hemoglobin 16.1 pg), and hemoglobin A2 1.4%. The identified large deletion fragment length was 21 925 bp, so far which had not been reported in the world and was named -α²¹·⁹. It was registered in USA DNA database and GenBank accession number as KF360979. The genotype of her mother and father and brother were αα/-α²¹·⁹, --(SEA)/-α³·⁷, αα/-α³·⁷ respectively, and the genotype of her and her sister were the same of --(SEA)/-α²¹·⁹. Her husband gene of thalassemia had no mutation, so prenatal diagnosis of thalassemia was not carried out in the pregnant woman.

CONCLUSION:

The discovery of -α(21.9) deletion mutation was enriched the DNA mutation gene database of thalassemia, and had important significance for genetic counseling and thalassemia prenatal diagnosis.

• Authors: Youqiong Li, Zhizhong Chen, Lin Zhao, Lin Wang, Mao Tian, Huayi Huang, Guifang Qin, Shiping Chen
• Journal: Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi (Zhonghua Xue Ye Xue Za Zhi) Vol. 35 Issue 8 Pg. 724-7 (Aug 2014) ISSN: 0253-2727 [Print] China
• PMID: 25152121 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Female
• Humans
• Male
• Pedigree
• Sequence Deletion
• Young Adult
• alpha-Thalassemia (genetics)