Compound heterozygosity for unstable hemoglobin Genova and beta(o)-thalassemia associated with early onset of thalassemia major syndrome.
We described the case of an infant with compound heterozygozity for a b0-thalassemic mutation and Hemoglobin (Hb) Genova, an unstable Hb variant. He has required regular transfusions as early as the second month of life and since then, behaves like a thalassemia major patient. This association leads to the most severe clinical course involving an unstable variant, reported so far.
Badens
Catherine
C
Laboratoire de Génétique Moléculaire, Hôpital d'enfants de la Timone, 13385 Marseille Cedex 5, France. badens@medecine.univ-mrs.fr
Paolasso
Chantal
C
Fossat
Chantal
C
Wajcman
Henri
H
Thuret
Isabelle
I
D001803:Blood Transfusion; D014644:Genetic Variation; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D013577:Syndrome; D013997:Time Factors; D017086:beta-Thalassemia / Q000235:genetics* / Q000628:therapy
D006455:Hemoglobins, Abnormal; C029606:hemoglobin Genova