Khatami Shohreh, Dehboneh Soghra Rouhi, Sadeghi Sedigheh, Mirzazadeh Roghieh, Saeedi Parinaz, Bayat Parastoo, Najmabadi Hossein, Zeinali Sirous, Akbari Mohammad Taghi, Ardjmand Mohammad, Amirkhani Aref
Department of Biochemistry, Pasteur Institute of Iran, Tehran, Iran.
Hemoglobin. 2007;31(3):333-41. doi: 10.1080/03630260701462006.
The present study aimed at differentiating rare types of heterozygous beta-thalassemia (thal) with normal Hb A(2) values from alpha-thal in Iranian carriers by globin chain synthesis in addition to other hematological parameters. Our study groups consisted of 51 normal subjects, 24 heterozygous beta- thalassemic subjects with high Hb A(2), 62 alpha-thal-2 subjects, 34 alpha-thal-1 subjects, six Hb H disease thalassemic subjects, 14 silent beta-thal subjects with normal Hb A(2) values, five deltabeta-thal subjects and two subjects with an association of alpha- and deltabeta-thal (total = 198). Analysis of globin chains was performed by high performance liquid chromatography (HPLC). The results showed that the alpha/beta ratio averages were close to the ones in the published literature, but with a greater standard deviation and a wider range. Globin chain synthesis (GCS) could be valuable in differentiating between microcytosis produced by silent beta-thal (heterozygous beta-thal with a normal Hb A(2) level) and that caused by alpha-thal. Since the complex genotype/phenotype relationship can lead to diagnostic difficulties, GCS cannot be used as the only diagnostic tool for thalassemia carrier detection. Therefore, a combination of different tests for each patient is required.
