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- W2115839261 abstract "We report a new hemoglobin (Hb) variant, Hb Marineo [β70(E14)Ala → Val], found in three generations of a family from West Sicily. The mutation is due to a GCC → GTC substitution at codon 70 of the β-globin gene. To date, three mutations at codon 70 of the β-globin gene have been described, presenting with hemolytic anemia. In our case, no anemia or other alteration of hematological indices were found. Cation exchange high performance liquid chromatography (HPLC) showed a peak in the P2 window (VARIANT I), while a peak was detected by VARIANT II HPLC in the P3 window. Reversed phase HPLC analysis showed an abnormal chain amounting to about 40% of the total β chains." @default.
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- W2115839261 date "2006-01-01" @default.
- W2115839261 modified "2023-09-23" @default.
- W2115839261 title "Hb Marineo [β70(E14)Ala→Val]: A Silent Hemoglobin Variant with a Mutation Within the Heme Pocket" @default.
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- W2115839261 doi "https://doi.org/10.1080/03630260600642005" @default.
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