Globin chain synthesis is a useful complementary tool in the differential diagnosis of thalassemias.
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.
Khatami
Shohreh
S
Department of Biochemistry, Pasteur Institute of Iran, Tehran, Iran. sh-khatami@pasteur.ac.ir
Dehboneh
Soghra Rouhi
SR
Sadeghi
Sedigheh
S
Mirzazadeh
Roghieh
R
Saeedi
Parinaz
P
Bayat
Parastoo
P
Najmabadi
Hossein
H
Zeinali
Sirous
S
Akbari
Mohammad Taghi
MT
Ardjmand
Mohammad
M
Amirkhani
Aref
A
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*
D005914:Globins