Figure 4.
Clinical course of a patient with CNSHA. The patient presented with severe NNJ requiring exchange blood transfusion; he then had moderate to severe anemia requiring frequent blood tranfusions (arrows at the top). At 9 years of age, he was splenectomized, whereupon he became transfusion-independent. Note the persistent reticulocytosis, that remitted after splenectomy. The underlying unique variant was G6PD Harilaou (class I: F216L). Reproduced from Luzzatto and Poggi63 with permission.