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Diagnosis and molecular characterization of a novel α0‐thalassemia deletion (–Kozani) found in a Greek child with unexplained microcytic hypochromic anemia

The diagnostic approach of microcytic anemia in childhood is usually uneventful and successful, as the most frequent etiologies are iron deficiency and thalassemias.1 Rare acquired and hereditary diseases affecting heme synthesis or iron metabolism have to be considered in unexplained cases.2 The investigation of these rare cases is often demanding and performed in specialized laboratories.3 For this reason, in countries with high percentage of thalassemia carriers, the presence of thalassemia mutations in both αand βglobin genes (HBA1/2 and HBB, respectively) has to be thoroughly investigated using all available modern molecular techniques, before starting the diagnostic process for the diagnosis of rare diseases. Our aim is to present a case of a child from Greece with an unexplained moderate microcytic hypochromic anemia refractory to oral iron treatment and normal findings with the conventional molecular techniques for the detection of thalassemia. Molecular analysis using multiplex ligationdependent probe amplification (MLPA) revealed the presence at the heterozygous level of a large novel α0thalassemia deletion.