Clinical and cytological analyses in five Japanese cases of hemoglobinopathy

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  • 異常ヘモグロビン症の日本人症例5例の臨床学的および細胞学的検討

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<p>Here, we report five Japanese cases of hemoglobinopathy. These are the first Japanese cases of Hb Sabine and Hb Hazebrouck. Patient 1 had severe hemolytic anemia from infancy. Splenectomy was performed because of repeated aplastic crises. Genetic analysis showed Hb Sabine [β91(F7)Leu→Pro, CTG→CCG(β)]. Patient 2 had hemolytic anemia and jaundice from the neonatal period. Genetic testing showed Hb Evans [α62(E11)Val→Met, GTG→ATG(α2)]. His mother also had hemolytic anemia and the same mutation. Patient 3 was referred to us because of persistently low levels of oxygen saturation measured using a pulse oximeter. He had mild anemia and normal arterial oxygen saturation. DNA sequencing analysis showed Hb Hazebrouck [β38(C4)Thr→Pro, ACC→CCC(β)]. His father also had low levels of oxygen saturation and the same mutation. All cases had various degrees of anemia and showed low levels of percutaneous arterial oxygen saturation. Inclusion bodies were stained with antibodies to band3 and EMA in patient 1 and the mother of patient 2. These complexes presumably caused membrane injuries and hemolysis even after splenectomy.</p>

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