An alpha-thalassemic hemoglobinopathy: homozygosity for the HB Agrinio alpha 2-globin chain variant.
This report describes the first case of homozygosity for the Hb Agrinio [alpha 29(B10)Leu-->Pro] alpha 2-globin gene variant (codon 29, CTG-->CCG) in a Greek patient. At 12 months of age, the proband presented with a marked hypochromic, microcytic anemia, a very low level of Hb H (< 2.5%), rare Hb H inclusions, and a balanced alpha/non-alpha biosynthesis ratio. The mother had hematological findings and globin biosynthesis consistent with heterozygous beta-thalassemia, but paradoxically, red cell morphology demonstrated very rare Hb H inclusions. The father had mild microcytosis and hypochromia. Analysis of alpha- and beta-globin genotypes demonstrated that the patient was homozygous for the highly unstable Hb Agrinio variant, caused by a T-->C mutation in codon 29 of the alpha 2-globin gene. At the age of 13 years, the proband had a clinical phenotype compatible with mild thalassemia intermedia with moderate anemia (Hb 7-8 g/dL), normal growth and development, slight splenomegaly, and minimal bone changes, while Hb H and inclusion bodies were not detected.
Traeger-Synodinos
J
J
First Department of Pediatrics, University of Athens St. Sophia's Children's Hospital, Greece.
Metaxotou-Mavromati
A
A
Kanavakis
E
E
Vrettou
C
C
Papassotiriou
I
I
Michael
T
T
Kattamis
C
C
D006580:Genetic Carrier Screening; D005838:Genotype; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D017354:Point Mutation; D017085:alpha-Thalassemia / Q000097:blood / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C097403:hemoglobin A(2)-Agrinio; D005914:Globins