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A new β(0)-thalassemia mutation (codon 102, AAC>ATCAC) in coexistence with a heterozygous P4.2 Nippon gene.

Hemoglobin - 1 Jan 2013

Adhiyanto Chris, Yamashiro Yasuhiro, Hattori Yukio, Nitta Takenori, Hino Minako, Matar Maryam, Takagi Fumiya, Kimoto Masafumi

Abstract excerpt

A new β-thalassemia (β-thal) frameshift mutation was found at codon 102 (AAC>ATCAC) in a 17-year-old Japanese male and his 14-year-old sister. Both demonstrated a more severe phenotype than the usual β-thal minor with mild hemolytic involvement. No mRNA derived from the thalassemic allele, or β(T)mRNA, was detected in the sequencing analysis of the whole mRNA (cDNA). However, the β(T)mRNA from the whole βmRNA was...

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PMID: 23600595
DOI: 10.3109/03630269.2013.777847

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