DNA studies are necessary for accurate patient diagnosis in compound heterozygosity for Hb Adana (HBA2:c.179>A) with deletional or nondeletional α-thalassaemia

Haemoglobin (Hb) Adana (HBA2:c.179>A) interacts with deletional and nondeletional α-thalassaemia mutations to produce HbH disorders with varying clinical manifestations from asymptomatic to severe anaemia with significant hepatosplenomegaly. Hb Adana carriers are generally asymptomatic and haemog...

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Vydáno v:Sci Rep
Hlavní autoři: Tan, Jin Ai Mary Anne, Kho, Siew Leng, Ngim, Chin Fang, Chua, Kek Heng, Goh, Ai Sim, Yeoh, Seoh Leng, George, Elizabeth
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2016
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4897612/
https://ncbi.nlm.nih.gov/pubmed/27271331
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep26994
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