OBJECTIVES Update the data collected in 1990 in order to assess the distribution and management of thalassemic patients presently living in Metropolitan France. METHODS A survey conducted in France in the clinical and biological departments of haematology permitted collection of epidemiological, clinical and biological data in a population of thalassemic patients followed-up in metropolitan France. RESULTS Analysis of the replies revealed a total of 362 thalassemia with 249 beta-thalassemia major, 81 beta-thalassemia intermedia and 32 E-beta thalassemia. These patients predominated in the East of France and in the large cities. The total number of patients has remained stable over the last decade and new cases are decreasing. Among the 249 patients presenting with a ss-thalassemia major, 42 had received a bone marrow graft, whereas 207 were systematically transfused and 189 regularly underwent iron chelating. COMMENTS Management is standardised and efficient but could be improved on with regard to iron chelating therapy.

Hemoglobinopathies have become a significant national health problem in France. The biologists have a pivotal role in the genetic diagnoses. Although sickle cell disease (SCD) is the most frequent abnormality found: not less than 200 new cases are observed each year at birth, many other globin gene variations are found in the various ethnic groups. Since 1995 a neonatal sickle cell screening program has been established for at risk newborns. This programme is supported by the "Association française de dépistage et prévention des handicaps de l'enfant" (AFDPHE). The characterization of hemoglobin genetic variations requires a comprehensive set of laboratory techniques for which we specify here main clinical and technical recommendations.

Several possible diagnoses are proposed to explain the symptomatology observed in a slightly jaundiced 10 month-old suckling infant suffering from fever and anaemia. Major beta-thalassaemia in its most severe form (Cooley's syndrome) proved to be the correct diagnosis. The importance of family background is stressed for these haemolytic cases.

Several possible diagnoses are proposed to explain the symptomology observed in a slightly jaundiced 10 month-old suckling infant suffering from fever and anaemia. Major beta-thalassaemia in its most severe form (Cooley's syndrome) proved to be the correct diagnosis. The importance of family background is stressed for these haemolytic cases.

Peripheral T lymphocyte subpopulations were quantified in 24 alcoholic cirrhotic patients, 11 of them having anti-HBs and/or anti-HBc antibodies, and were compared with 35 healthy control subjects, 10 of them having anti-HBs and/or anti-HBc antibodies. The monoclonal antibodies utilized (OKT3, OKT4, OKT8 in simple staining, Leu 2 and Leu 15 in double staining) are considered as markers of mature (CD3), helper (CD4), cytotoxic/suppressor (CD8, Leu 2), suppressor (Leu [2+ 15+), and cytotoxic (Leu 2+ 15-) T cells. In cirrhotics, when compared to controls, the number of CD3 cells was reduced (p less than 0.01); the proportion of CD4 cells was within normal range, and that of CD8 cells diminished (p less than 0.001), contrasting with an increased proportion of Leu 2+ cells (p less than 0.01), related to an increased proportion of Leu 2+ 15+ cells. Leu 2+ 15- lymphocytes were within normal range. In control subjects, a decreased proportion of Leu 2+ 15+ cells was found (p less than 0.05) when Ac HBs and/or Ac HBc were present. In cirrhotics having at least one serologic marker of hepatitis B virus infection, when compared with negative ones, increased proportions of Leu 2+ (p less than 0.05) and Leu 2+ 15+ (p less than 0.05) cells were found. These results show that data concerning T lymphocyte subpopulations are conflicting when various types of antibodies are used. However, they suggest abnormalities of immune regulation, possibly a defect of T suppressor cell function. Hepatitis B virus infection probably modifies immune regulation in alcoholic cirrhosis, and perhaps in normal subjects.

Disorders of immunity and nutritional status are known to be present in alcohol-induced diseases of the liver, but their significance is still debated. Nutrition and immunity were evaluated at different stages of the disease in 58 alcoholic patients with steatosis (n = 20), alcoholic hepatitis (n = 14) or cirrhosis (n = 24). Most of the anthropometric data and biochemical values relating to nutrition were altered to the same degree in these 3 groups. Only patients with cirrhosis had significantly lower blood albumin and zinc levels (P less than 0.01). Humoral immunity was altered in cirrhosis only and cellular immunity in all 3 liver diseases. There was no correlation between immunity and nutrition (except for blood zinc and E rosettes; P less than 0.01) or between these and alcohol consumption. Like several nutritional parameters, blood lymphocyte values correlated negatively with a liver disease severity index. It is concluded that disorders of nutrition and immunity are broadly comparable in alcohol-induced liver diseases; there is no direct statistical correlation between these disorders which seem to be independent of the type of liver disease.

A case of a heterozygote for Hb J Baltimore is reported in a French family. This variant hemoglobin was coincidentally discovered during an episode of methemoglobinemia in a 6-week-old baby. The father and one of the brothers were also carriers of the trait. Hematological findings for all of them were normal. As Hb J Baltimore is a frequently occurring hemoglobin variant, we discuss: its possible role in the appearance of methemoglobin, and whether this mutation in different racial groups (Caucasians of West Europe, Canadians, and American blacks) has a common origin or more probably arises from a number of independent mutations.