Successful unrelated donor stem cell transplantation for advanced myelofibrosis in an adult patient with history of orthotopic liver transplantation.

globin loci revealed that the fetus had inherited the mother’s (ε,γ,δ,β)° thal and an anti -3.7 α-triplication from the father (Figure 1). Two intrauterine RBC transfusions were performed at weeks 22 and 29. Hydrops did not recur and growth was satisfactory. The baby was born by caesarean section at 35 weeks and was well without hepatosplenomegaly; his Hb was 9.3 g/dL, reticulocyte count 356 10/L, bilirubin 40 mg/L. RBC transfusions have been necessary every three weeks to maintain Hb value above 9 g/dL, the baby now being four months old. The severe hydrops foetalis was due in this case to inheritance of an (εγδβ)°-thalassemia and an anti -3.7 αglobin gene triplication. Typically, patients heterozygous for an (εγδβ)°-thalassemia deletion alone exhibit at birth a hypochromic anemia with various degrees of hemolysis. Blood transfusion in the neonatal period is sometimes necessary in (εγδβ)°-thalassemia like in the probant’s mother’s case II.2. However contrasting phenotypes have been reported in one family. The occurrence of early manifestations in this case is explained by the increasing imbalance between the α and non α-globin chains ratio during fetal life. In our case III.2, the association with the triplicated α-genes increased the imbalanced α/non α-globin ratio which explains the “fetal thalassemia intermedia” requiring blood transfusions during the intra-uterine period. Thalassemia intermedia is characterized by an unstable thalassemic erythropoiesis needing transfusion when an erytroid stress occurs. In our case, it is very likely that the transition from embryonic to fetal erythropoiesis was the “erythroid stress” causing a greater sensitivity to the effect of globin imbalance and the hydrops foetalis. Intra uterine transfusion in (εγδβ)°thalassemia related to the presence of such a deletion has been previously cited twice; it could be hypothesized that triplication alpha might also be involved in these cases (α-triplication not evaluated). The frequency of αtriplication varies according to population origin and cannot be identified with routine parameters, as attested by the father’s normal phenotype (II.3). However the impact of such an association is extremely important and could threaten the fetus’s life. Our observation emphasizes the absolute necessity of systematically looking at α-gene status in partners of (εγδβ)°-thalassemia carriers before conception considering the severity of such an association. Careful follow-up of both the fetus and the mother, if carrier of the (εγδβ)°thalassemia deletion, is mandatory. Christian Rose, Julien Rossignol, Anne Lambilliotte, Sandrine Depret, Nathalie Le Metayer, and Serge Pissard Service d’Hématologie, Hôpital St Vincent de Paul, Université Catholique de Lille, Lille; Service d’Hématologie Pédiatrique, CHU Lille; Service de Gynécologie et d’Obstétrique, CHU Lille; Service de Génétique et de Biochimie, CHU Hôpital Henri Mondor, Université Paris 12 Créteil, France Correspondence: Christian Rose, Service d’Onco-Hématologie, Université Catholique de Lille, Boulevard de Belfort 59000 Lille, France. Phone: international +33.20874532. Fax: international +33.20874585. E-mail: [email protected]