A Case Report of Diagnosis of α-thalassemia-2
An apparently healthy 31-year old Japanese man was presented with mild hypochromia and low grade microcytosis during a medical check-up. The MCV and MCH values were low and serum iron level was also decreased. Remaining hematological and biochemical examinations revealed normal. With the provisional diagnosis of thalassemia trait, either β or α, further investigations were done for confirmatory documents. Isoelectric focusing and DEAE-HPLC showed no abnormalities. The (β/α ratio of globin biosynthesis was also normal. DNA analysis by the PCR method using special primer sets was positive with -α3.7 (α-thal-2) and final confirmation was documented by direct sequencing of PCR products where deletion site was detected. Here we highlighted that, (β/α ratio may not be changed in some form of -α3.7 (α-thal-2) patient. DNA analysis is mainstay of investigation to attain the accurate diagnosis in α-thal syndromes.
