Article
A novel α(0) -thalassemia deletion in a Greek patient with HbH disease and β-thalassemia trait.
European journal of haematology - 1 Apr 2012
Phylipsen Marion, Traeger-Synodinos Jan, van der Kraan Martijn, van Delft Peter, Bakker Greet, Geerts Mariska, Kanavakis Emmanuel, Stamoulakatou Alexandra, Karagiorga Markissia, Giordano Piero C, Harteveld Cornelis L
Abstract excerpt
OBJECTIVES: To determine the molecular basis in a Greek child suspected of having HbH disease and β-thalassemia trait. METHODS: Standard hematology, Hb electrophoresis, and HPLC. Multiplex ligation-dependent probe amplification (MLPA), direct sequencing, and breakpoint characterization by NimbleGen fine-tiling array analysis. RESULTS: The index patient showed a moderate microcytic hypochromic anemia with normal...
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