[Leishmaniasis in a splenectomized thalassodrepanocytic young adult]. / Infezione da leishmania in un giovane adulto splenectomizzato affetto da talasso-drepanocitosi.

We report a 23-year-old thalassodrepanocytic man who contracted leishmaniasis. The diagnostic difficulties related to some overlapping features between the two conditions are discussed. To the best of our knowledge, this is the first reported occurrence of leishmaniasis in a thalassodrepanocytic patient.

Liver involvement in white patients with sickle-cell disease.

BACKGROUND: Liver involvement and cholelithiasis are common complications of sickle-cell disease. The incidence of clinically evident hepatic damage reported in the literature for black people varies from 15% to 30%, while no data are reported for white people. OBJECTIVE: To evaluate the liver involvement in 40 patients with homozygous sickle cell anemia (the beta 5 beta 5 form of sickle-cell disease) and 102 patients with double-heterozygous hemoglobin S and beta-thalassemia (65 with the beta 5 beta 0th and 37 with the beta 5 beta +th form of sickle-cell disease). SETTING: The Department of Pediatric Hematology and Oncology, University of Catania, Catania, Italy. PATIENTS: Outpatients with sickle-cell disease. RESULTS: We found that, in our patients, liver disease seems to be clinically irrelevant: only 2 of the 142 patients examined had notable alterations in hepatic function. Cholelithiasis was found in 42.1% of the subjects with the beta 5 beta 5 form of sickle-cell disease and in 26.8% of the subjects with the beta 5 beta th form. Age-related analysis revealed a greater incidence of cholelithiasis during the first years of life in the patients with the beta 5 beta 5 form of the disease than in patients with the beta 5 beta th form. CONCLUSION: Our data showed that liver involvement in sickle-cell disease is clinically irrelevant, reflecting the fact that the clinical expression of sickle-cell disease in Sicilian patients is moderate.

Association of Hb S/Hb lepore and delta beta-thalassemia/Hb lepore in Sicilian patients: review of the presence of Hb lepore in Sicily.

The hemoglobin (Hb) lepore-Boston is a beta-globin structural variant, produced in a reduced amount and formed from the fusion of N-terminus delta-(residues 1-87) and C-terminus beta-chains (residues 116-146). This type of fusion protein is quite common in Southern Italy (Campania, Calabria, and Sicily). We report here the hematological and hemoglobin data on 96 unrelated Sicilians with Hb lepore trait. Particularly interesting are the subjects where Hb lepore occurs with Hb S or Sicilian type delta beta-thalassemia. In these individuals, striking features are clinical variability and different hematological pictures. These observations underscore the importance of thalassemia screening in these geographic areas, such as Southern Italy, principally Sicily, where the mutations in globin gene clusters are especially prevalent. Moreover, as from the second half of the last century, owing to high migratory flux from Sicily to Northern Europe, North and South America, and Australia, the Hb lepore, as well as other hemoglobin variants, have become prevalent, making the identification of the heterozygotes a problem of general interest.

Growth and development in white patients with sickle cell diseases.

We have evaluated height, weight, bone age, somatomedin-C levels, and pubertal development in 114 Sicilian patients affected by sickle cell diseases (SCDs). Thirty-one had homozygous sickle hemoglobin (SS), 55 S-beta 0 thalassemia, and 28 S-beta + thalassemia. In both children and adults, the mean height and weight were approximately 1 SD below the normal mean for age. The height was below the normal range only in a few subjects (8 children and 4 adult women). Somatomedin-C levels were within the normal range in most of the patients (37/44 children and 17/22 adults). Bone age revealed a slight delay in skeletal maturation (mean chronological age and bone age were 7.7 +/- 3 and 7.11 +/- 2.9 respectively; p < 0.05). Mean age at menarche was increased compared to normal subjects. Our findings show that Sicilian patients with SCD exhibit a moderate delay of growth and adolescence but attain a final height within the normal range.

Clinical, hematological, and molecular features in Sicilians with sickle cell disease.

We report the clinical, hematological, and molecular findings observed in 32 Sicilian patients with sickle cell disease. None of our patients received regular blood transfusions and careful infectious disease prophylaxis was carried out for all. Haplotyping of beta S chromosomes was performed in all patients; all were homozygous for haplotype #19 (Benin). Gene mapping excluded the presence of an alpha-thalassemia in 13 of our patients; none of the relatives showed any evidence of the presence of alpha-thalassemia. Hb F levels were 11.8 +/- 5.9% with G gamma representing 39.6 +/- 3.6% of total gamma chain. Hb F levels were higher in females than in males (12.5 +/- 5.9% versus 9.7 +/- 6.5%) but the difference was not statistically significant. All patients, regardless of age and sex, were anemic with normal mean corpuscular hemoglobin concentration, high mean corpuscular volume and mean corpuscular hemoglobin, and mild reticulocytosis. Analysis of clinical manifestations suggests that our patients have a disease of moderate severity.