[The first case of thalassemia intermedia in Spain due to the interaction of 3 alpha genes with beta-thalassemia minor].
We have identified the case of a 9-months-old girl with heterozygotic thalassemia and triplication of alpha genes of globin (alpha alpha alpha 3.7). Molecular defect of thalassemia was a mutation without sense of 39 codon. Patient's phenotype was an intermediate thalassemia with moderate splenomegaly and marked unbalance on the globin chains. This is the first case of intermediate thalassemia, through this mechanism, described in Spain.
Servicio de Hematología y Hemoterapia, Hospital Universitario San Carlos, Madrid.
A
A
Villegas
M
M
López Rubio
J
J
Sánchez
A
A
González
C
C
Pérez Clausell
A
A
Sal del Río
E
E
del Potro
F
F
Valverde
D
D
Espinós
D005260:Female; D005796:Genes; D006441:Hemoglobin A / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D009154:Mutation; D013030:Spain; D013789:Thalassemia / Q000209:etiology / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
D006441:Hemoglobin A
Primer caso de talasemia intermedia descrito en España debido a la interacción de tres genes alpha con beta talasemia minor.