Peripheral neuropathy in thalasemia

Patients with thalassemia may complain of numbness and weakness of the lower extremities. The aim of the study was to document whether these patients suffer from a polyneuropathy and to determine any contributing factors for the development of neuropathy. We examined 30 patients with thalassemia major and intermedia, clinically and electrophysiologically. We corre_lated these findings with demographics, blood status, and treatment and compared electrophysiologic data with 30 age- and sex-matched normal subjects or historical controls. We found that 78% of thalassemic patients suffered from a mild sensory polyneuropathy. The neuropathy seemed to be worse in the intermedia type. Thalassemic patients who received blood transfusions and deferoxamine had better nerve function than those who did not, irrespective of the dose of deferoxamine. The neuropathy was worse for older patients, irrespective of sex. The hemoglobin level, and the fact that some patients underwent splenectomy, did not affect the status of the patients' nerves. Patients with thalassemia may suffer from a sensory polyneuropathy especially as they grow older and if they are not opti_mally treated

Karyotype of amniotic fluid cells at the AUB-MC results on 2000 cases

We report results on 2000 cases of amniotic fluid referred for karyotype analysis. Referrals were advanced maternal age in 64% of cases and abnormal ultrasound in 12% of cases. The frequency of chromosome aneuploidy was 2.4% in the first category and that of chromosome abnormalities 8% in the second. The incidence of marker chromosomes was 0.25% 5 that of mosaicism 0.3% 5 and maternal cell contamination was observed in 0.6% of cases. The overall culture failure rate was 0.9%.Our results are mostly in accordance with figures from larger surveys, published in the literature and differences might be due to the smaller number of samples in this series and variation in referral and/or sampling protocols

Karyo type analysis in chronic myelogenous leukemia Athree year experience at the American university of Beirut medical center

We report the results of karyotype analysis on cases referred to our laboratory for chronic myelogenous leukemia [CML] over a period of three years. A total of 68 patients were referred and a karyotype was successfully obtained in all cases except one. Thirty one percent of cases were found to have a normal karyotype, 58.5% were Philadelphia [ph1] positive while 10.5% of cases had chromosome abnormalities other than ph1. among the ph1 positive cases, 92% had the standard translocation [9;22], 7.7% had a variant translocation and 12.8% had additional chromosome abnormalities. Our results are compared to those generally reported in the literature and the comparisons are discussed