George E, Jama Tan, Azian A S Nor, Rahimah A, Zubaidah Z
Haematology Unit, Department of Pathology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, 43400 UPM Serdang, Selangor, Malaysia.
Med J Malaysia. 2009 Dec;64(4):321-2.
A rare case of thalassaemia-intermedia involving a non-deletion alpha thalassemia point mutation in the alpha1-globin gene CD59 (GGC --> GAC) and a deletion alpha+ (-alpha(3.7)) thalassaemia in which use of high performance liquid chromatography (HPLC) C-gram Hb subtype profile and DNA molecular analysis helped establish the diagnosis.
一例罕见的中间型地中海贫血病例，涉及α1-珠蛋白基因CD59（GGC→GAC）的非缺失型α地中海贫血点突变以及缺失型α+（-α(3.7)）地中海贫血，其中高效液相色谱（HPLC）C-gram Hb亚型谱分析和DNA分子分析有助于确诊。
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