title: Globin chain synthesis is a useful complementary tool in the differential diagnosis of thalassemias.
abstract: 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.
authors.affiliation: Department of Biochemistry, Pasteur Institute of Iran, Tehran, Iran. sh-khatami@pasteur.ac.ir
authors.forename: Shohreh
authors.initials: S
authors.lastname: Khatami
authors.forename: Soghra Rouhi
authors.initials: SR
authors.lastname: Dehboneh
authors.forename: Sedigheh
authors.initials: S
authors.lastname: Sadeghi
authors.forename: Roghieh
authors.initials: R
authors.lastname: Mirzazadeh
authors.forename: Parinaz
authors.initials: P
authors.lastname: Saeedi
authors.forename: Parastoo
authors.initials: P
authors.lastname: Bayat
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
authors.forename: Sirous
authors.initials: S
authors.lastname: Zeinali
authors.forename: Mohammad Taghi
authors.initials: MT
authors.lastname: Akbari
authors.forename: Mohammad
authors.initials: M
authors.lastname: Ardjmand
authors.forename: Aref
authors.initials: A
authors.lastname: Amirkhani
mesh_terms: D016022:Case-Control Studies; D002851:Chromatography, High Pressure Liquid; D003937:Diagnosis, Differential; D005914:Globins / Q000032:analysis / Q000096:biosynthesis*; D006579:Heterozygote; D006801:Humans; D007492:Iran; D013789:Thalassemia / Q000175:diagnosis*
chemical_list: D005914:Globins