Did the Proband Have Thalassemia Intermedia or Severe Thalassemia Trait?

نویسنده

  • Şinasi Özsoylu
چکیده

I enjoyed reading Bilgen et al.’s case report, The effect of HBB: (c*+96T>C (3’UTR+1570 T>C) on the mild β-thalassemia intermedia pheonotype, in the recent issue of the Journal (2011; 28: 219-222). I congratulate the authors for exploring at the molecular level at least one of the thalassemia minima that fits well with the present clinical thalassemia nomenclature. Based on their clinical description, I would not consider the proband as thalassemia intermedia, as until 20 years of age he did not require blood transfusions [1]. The mother had thalassemia trait, the father had thalassemia minima, and the proband clinically had severe thalassemia trait, as he had mild hepatosplenomegaly and was compound heterozygote (thalassemia trait[+] and carrier of HBB: C*+9,6 T>C mutation).

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عنوان ژورنال:

دوره 29  شماره 

صفحات  -

تاریخ انتشار 2012