Turiddu Lombardo

Heterogeneity of haplotypes among patients with severe Cooley disease in Eastern Sicily

SummaryThere is a large variation of clinical severity among thalassemic patients in Sicily. A heterogeneous molecular basis has already been demonstrated among the patients presenting with thalassemia intermedia. The same approach, based mostly on linked haplotypes of the β gene cluster polymorphisms and in some cases on the demonstration of the molecular defect itself, was used to investigate 55 patients presenting with severe Cooley anemia, all maintained under permanent transfusion regimen. A large heterogeneity was demonstrated in the observed haplotypes, and only a limited overlap with those already found in thalassemia intermedia. It has been noted that many of the patients are compound heterozygotes, the various observed associations making the antenatal diagnosis at the DNA level difficult in the near future.

Histopathology of thalassemic heart disease: an endomyocardial biopsy study.

Right ventricle endomyocardial biopsies were obtained from 13 thalassemic patients. Clinical profiles were investigated, and serum ferritin tests were assessed using diagnostic kits. Histochemical iron detection (Perls method) and immunohistochemical stain for ferritin were performed in the endomyocardial samples. Histologic iron overload was observed in eight patients, and variable iron deposits were recognized by a semiquantitative method. There was a statistically evident correlation between serum ferritin and myocardial iron storage. Marked iron deposition was associated with higher immunohistologic ferritin concentration. Iron-negative tissue samples showed bland immunohistochemical positivity. Myocardial interstitial fibrosis was observed in 12 cases; diffuse perimyocytic or perivascular fibrosis and endocardium thickening were the main histologic patterns identified. One biopsy was characterized by marked fibrolipomatous infiltration. Myocyte hypertrophy, myocytolysis, and severe capillary congestion also were observed.

Percutaneous aortic valve replacement in a 65-year old patient with thalassemia intermedia: A case report

Thalassaemia is an inherited hemoglobin disorder resulting in chronic hemolytic anemia. Organ damage caused by iron overload represents the major cause of illness and the heart complications secondary to extensive myocardial iron overload are the leading cause of mortality. These patients are generally not considered as candidates for heart transplantation. We report a case of a patient with thalassemia intermedia (TI) with severe cardiac dysfunction and severe aortic stenosis who underwent percutaneous aortic valve replacement (PARV). PARV was a safe and a valid therapeutic approach dramatically to improve the clinical evolution of cardiomyopathies in our patient.