Extramedullary haematopoiesis correlates with genotype and absence of cardiac iron overload in polytransfused adults with thalassaemia.

BACKGROUND: The mechanisms responsible for the sporadic occurrence of extramedullary haematopoiesis in polytransfused thalassaemic patients have not yet been clarified. In this study we tried to elucidate the influence of genotype and other factors on the presence of extramedullary haematopoiesis. MATERIALS AND METHODS: We performed a retrospective database review of our polytransfused thalassaemic patients between January 2006 and December 2011. Demographic, transfusional, genetic, radiological and biochemical data were collected and statistically analysed. RESULTS: Extramedullary haematopoiesis was found in 18 out of 67 patients (27%). All of them were splenectomised, had a higher nucleated red blood cell count and higher levels of the soluble form of transferrin receptor with respect to patients without extramedullary haematopoiesis; furthermore, patients with EMH had a lower transfusional iron intake and a higher pre-transfusion haemoglobin level as compared with those without extramedullary haematopoiesis. Ten out of the 18 patients with extramedullary haematopoiesis were compound heterozygotes for IVS 1-6/codon 39. A high frequency of thrombotic events was also recorded among all patients followed at our centre with this genetic profile. DISCUSSION: Among our cohort of thalassaemic polytransfused patients, extramedullary haematopoiesis was not such a rare event. Furthermore, we identified a group of patients, most of whom were compound heterozygotes for IVS 1-6/codon 39, with increased soluble transferrin receptor levels and excessive expansion of erythroid marrow probably responsible for the tendency to develop extramedullary haematopoiesis.

Neapolis (CD 126 beta+ GGT->GGG): a result of a screening in Campania, a region in Southern Italy.

Between January 1995 and December 2005, we conducted a screening program for the presence of Hb Neapolis, a rare abnormal Hb variant, in Campania, a region in Southern Italy. Nineteen patients with Hb Neapolis in heterozygosis and six patients with a genetic compound (Hb Neapolis/beta-thalassemia) were identified. Patients with Hb Neapolis in heterozygosis showed a slight alteration in HbA2 levels while compounds showed typical characteristics of thalassemia intermedia ranging from a non transfusion-dependent form for five patients to a transfusion-dependent form for one adult patient.

HFE gene mutations in patients with acute leukemia.

An increased incidence of HFE gene mutations has been described in hematologic malignancies. In the present study, we investigated the allelic frequency of HFE gene mutations in 154 adult patients with acute leukemia (AL) [107 acute myeloid leukemia (AML), 20 acute promyelocytic leukemia (APL) and 27 acute lymphoblastic leukemia (ALL)]. The allelic frequency of the H63D mutation was 29% in AL patients and 25% in the healthy controls [P = 0.41; odds ratio (OR) = 1.20; 95% confidence interval (CI) = 0.77 - 1.93]. No difference was found between controls and AML or APL patients, whereas the H63D mutation was significantly more frequent in ALL than controls (44% vs. 25%, P = 0.04; OR = 2.37; 95% CI = 1.05 - 5.36). The overall comparison of the mutation among the three subtypes of AL demonstrated a higher allelic frequency in ALL (P = 0.02). In conclusion, our data demonstrate a correlation between the presence of the H63D mutation and the occurrence of ALL in adult patients.