Hb Marineo [β70(E14)Ala→Val]: A Silent Hemoglobin Variant with a Mutation Within the Heme Pocket

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.

Keywords:

• Hb Marineo
• β-Globin chain variant
• Cation exchange high performance liquid chromatography (HPLC)
• Reversed phase HPLC
• DNA sequencing analysis