Inherited factor XI deficiency is an injuryrelated bleeding disorder that is rare in most populations except for Jews, in whom 2 mutations, a stop mutation in exon 5 (type II) and a missense mutation in exon 9 (type III), predominate. Recently, a cluster of 39 factor XI-deficient patients was described in the Basque population of Southwestern France. In this study, we determined the molecular basis of factor XI deficiency in 16 patients belonging to 12 unrelated families of French Basque

We report on 3 female patients with immunologic thrombocytopenic purpura (ITP) for whom diagnostic procedures evidenced a chronic Hepatitis C virus (HCV) infection. In 2 cases, a transfusion performed more than 10 years ago represented the probable way of contamination. One patient received a course of steroids, which normalized the platelet counts. Another one has been treated with repeated IV immunoglobulins, which induced partial responses of variable duration. HCV is responsible for many autoimmune manifestations and a search for this virus seems warranted for exploring patients with ITP.

Summary. The diagnosis of type I von Willebrand disease (VWD) is not straightforward because of the absence of a single clear-cut biological criteria and the interference of several acquired conditions on phenotype expression. We illustrate here this challenge with the French Basque population characterised by a marked high frequency in both blood group O and factor XI deficiency. From this example one may question the validity of epidemiological studies reporting on VWD prevalence.

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When excluding haemophilia and von Willebrand disease, coagulation factors deficiencies constitute rare autosomal recessive disorders (<1 in 500,000) of less precisely defined epidemiology. We have reported herein the distribution of these entities in the French Basque Country, a genetic isolate of very old individualization with peculiar biological specificities. The prevalence of these disorders was markedly high, especially, as already shown, factor XI deficiency. This unusual profile needs to be discussed in the view of population genetics.

Chemotherapy-related acute leukemias or myelodysplasias are well-recognized entities. On the other hand, little is known about the possible occurrence of secondary chronic myeloid leukemia (CML) after radiotherapy, albeit accidental irradiation represents a classical predisposing factor for this disease. We report here three cases of Philadelphia-positive CML appearing one to 25 years after breast or uterine cervix cancer radiotherapy. One patient had also received chemotherapy. Clinical and biological characteristics of these cases did not significantly differ from those of de novo CMLs. A brief review of the literature is made about this possible peculiar entity. Large registries appear warranted to assess the real risk of developing CML after anti-cancer radiotherapy.

Because peculiar profiles for some genetic haematological diseases have been described among Basques, we aimed to investigate the distribution of haemophilia among this specific population. Hence, we retrospectively assessed all the cases of factor (F) VIII and FIX deficiencies seen in the French Basque country during a 16-year period. Data on 41 patients with haemophilia (FVIII or FIX = 25%) were compiled. Incidence and prevalence for the whole population ranged within the classical limits (but with an unusually high A : B ratio) and tended to be slightly lower in autochthonous Basques (P = n.s.). Our data did not support significant differences in the distribution of this disease among French Basques.

Desmopressin represents a well-established treatment for patients with von Willebrand disease and mild hemophilia A [1, 2]. Recently, this drug has been used with success in two symptomatic factor XI (FXI)-deficient individuals before surgery [3]. We report herein our own experience with 2 patients.