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Background: We have aimed at exposing left ventricular diastolic functions and the presence of known genetic mutations for familial erythrocytosis, in patients who exhibit idiopathic erythrocytosis. Methods: Sixty-four patients with idiopathic erythrocytosis (mean age, 46.4 +/- 2.7 years) and 30 age-matched healthy subjects were prospectively evaluated. The regions of interest of the erythropoietin receptor, hemoglobin beta-globin, von Hippel-Lindau, hypoxia-inducible factor 2 alpha, and Egl-9 family hypoxia-inducible factor genes were amplified by PCR. Left ventricular (LV) mass was measured by M-mode and 2-dimensional echocardiography. LV diastolic functions were assessed by conventional echocardiography and tissue Doppler imaging. Results: As a result of genetic analyses, genetic mutations for familial erythrocytosis were detected in 5 patients. It has been observed in our study that the risk of cardiovascular disorders is higher in patients. Interventricular septum thickness, left atrial diameter, and some diastolic function parameters such as deceleration time and isovolumetric relaxation time have been found to be significantly higher in idiopathic erythrocytosis group than in the controls. Conclusion: This study has shown that LV diastolic functions were impaired in patients with idiopathic erythrocytosis. In this patient group with increased risk of cardiovascular disorders, the frequent genetic mutations have been detected in 5 patients only. Therefore, further clinical investigations are needed as novel genetic mutations may be discovered in patients with idiopathic erythrocytosis because of cardiovascular risk. scientific and technological research council of Turkey [Tubitak-215S524] This research was funded by scientific and technological research council of Turkey (Tubitak-215S524).

Hb La Coruña [beta38(C4)Thr --Ile] is a new hemoglobin (Hb) variant that has an increased oxygen affinity. Clinically, this Hb leads to erythrocytosis. Hb La Coruña is an electrophoretically silent variant that can be detected by reversed phase high performance liquid chromatography (HPLC) and characterized by DNA sequencing. The patient was a 22-year-old Spanish male whose family lived in La Coruña, in the northwest of Spain. His mother was also a carrier.

1.1. Polycythemia may be primary, secondary or familial. The duration of each differs. The duration of primary polycythemia (polycythemia vera) is probably ten to fifteen years. 2.2. The primitive erythroid elements (normoblasts, etc.) of the marrow probably differ in each of the three entities. Radiophosphorus rather effectively inhibits mitosis of normoblasts in cases of primary polycythemia but not of secondary polycythemia. 3.3. Primary polycythemia may be a very chronic type of myeloid leukemia. Regardless of treatment about 10 per cent of the cases develop leukemia. Neither secondary nor familial polycythemia is known to be associated with leukemia. 4.4. Thirty cases of primary polycythemia that to date had forty-one satisfactory remissions following the use of radiophosphorus are reported. One patient with secondary polycythemia did not respond to radiophosphorus, as was expected. 5.5. If bedridden patients are treated with radiophosphorus, they should be treated most cautiously.

The occurrence of polycythemia vera in family members has been a rare event, with little or no documentation in the literature to suggest a common genetic defect. We report here on the first case of polycythemia vera documented in identical twins. No chromosomal abnormalities have yet been detected in these patients. The criteria for the diagnosis of polycythemia vera are reviewed, and the possible implications of our findings are discussed.

Few instances of familial polycythemia have been reported. No thorough studies have been made of the families of patients with this condition. Nichamin,1in 1907, observed a patient with mild polycythemia whose mother and sister had enlargement of the spleen and cyanosis. No studies were made on the blood of the relatives. Bernstein,2in 1914, recorded what he believed to be the first published report of the familial incidence of polycythemia. The blood of the patient contained 12,500,000 red corpuscles per cubic millimeter and 140 per cent hemoglobin. There were splenomegally and cyanosis. The son of this patient did not have a palpable spleen, but his blood showed 7,500,000 red corpuscles and 120 per cent hemoglobin. Tancre,3in 1917, reported the occurrence of polycythemia in two sisters, one of whom had 13,000,000, and the other 6,100,000, red blood corpuscles per cubic millimeter of blood. He suggested the