A 20-year-old Japanese woman was admitted to our hospital with anemia and mild splenomegaly. Peripheral blood examination revealed Hb 9.4 g/d
l, Ht 29.3%, RBC 4.74×10
6/μ
l, reticulocytes 2.4%, WBC 5,200/μ
l, platelets 24.9×10
4/μ
l, MCV 61.7 fl, and MCH 19.9 pg. Poikilocytosis with target cells was recognized on the peripheral blood smear. A bone marrow aspirate revealed erythroid hyperplasia. Serum iron and ferritin were in the normal range. β-thalassemia was suggested by the increase in HbA2 (6.5%) and HbF (7.5%). Analysis of β globin DNA by single strand conformation polymorphism (SSCP) and amplification refractory mutation system (ARMS) confirmed a diagnosis of homozygous β
+-thalassemia due to −31 A to G mutation. A familial study revealed that her parents were heterozygous for this allele. This is the 8th case of homozygous β
+-thalassemia due to −31 A to G mutation in Japan.
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