Severe α-Thalassemia Intermedia Due to a Compound Heterozygosity for the Highly Unstable Hb Adana (HBA2: c.179G>A) and a Novel Codon 24 (HBA2: c.75T>A) Mutation

HBA2: We report a novel mutation at codon 24 of the α2-globin gene (HBA2: c.75T > A) found in a Sundanese family. This novel mutation was detected during prenatal diagnosis. The couple already had a 7-year-old boy who exhibited clinically severe α-thalassemia intermedia (α-TI), and he was found t...

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Hlavní autoři: Megawati, Dewi, Nainggolan, Ita M., Swastika, Maria, Susanah, Susi, Mose, Johanes C., Harahap, Alida R., Setianingsih, Iswari
Médium: Artigo
Jazyk:Inglês
Vydáno: Informa Healthcare USA, Inc. 2014
Témata:
Short Communication
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3971804/
https://ncbi.nlm.nih.gov/pubmed/24351118
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/03630269.2013.863206
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