An alpha-thalassemic hemoglobinopathy: homozygosity for the HB Agrinio alpha 2-globin chain variant.
Hemoglobin
; 22(3): 209-15, 1998 May.
Article
em En
| MEDLINE
| ID: mdl-9629496
ABSTRACT
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hemoglobinas Anormais
/
Mutação Puntual
/
Talassemia alfa
/
Homozigoto
Limite:
Humans
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Infant
/
Male
Idioma:
En
Ano de publicação:
1998
Tipo de documento:
Article