We present a 7-year-old boy with microcytic, hypochromic anaemia, without depletion of iron reserves. As both parents were known carriers of β-thalassemia, prenatally both β-thalassemia major and minor had been excluded. Extensive diagnostics showed a rare form of α-thalassemia, seen relatively frequently in Sardinia, caused by a point mutation in the initiation codon of the α2-locus. As α-thalassemia is generally caused by deletions in the α-globin genes and point mutations will only be detected by sequence analysis, this type of mutation will be missed when only α-globin gene deletion screening is performed.

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Persistent URL dx.doi.org/10.1007/BF03086386, hdl.handle.net/1765/24133
Segers, H., Scharnhorst, V., Busari, J.O.O., & Cnossen, M.H.. (2009). 'Getting involved with the wrong one': Diagnostics of thalassemia. Tijdschrift voor Kindergeneeskunde, 77(4), 175–178. doi:10.1007/BF03086386