Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study.

Background: Spinal muscular atrophy (SMA) is the most common neuromuscular autosomal recessive disorder. The American College of Medical Genetics has recently recommended routine carrier screening for SMA because of the high carrier frequency (1 in 25-50) as well as the severity of that genetic disease. Large studies are needed to determine the feasibility, benefits, and costs of such a program.

Delayed treatment of diagnosed pulmonary tuberculosis in Taiwan.

Background: Mycobacterium tuberculosis infection is an ongoing public health problem in Taiwan. The National Tuberculosis Registry Campaign, a case management system, was implemented in 1997. This study examined this monitoring system to identify and characterize delayed treatment of TB patients.

Beta-thalassemia major births after National Screening Program in Taiwan.

Objective: A National Thalassemia Screening Program was adopted in Taiwan in 1993. This report examined that program's results and impact.

Methods: Patients with beta-thalassemia major born between 1994 and 2003 were recruited through the help of all thalassemia clinics in Taiwan.

Survival, mortality, and complications in patients with beta-thalassemia major in northern Taiwan.

Background: Advances in treatment have improved the prognosis in beta-thalassemia major. We present the survival and complications pattern of those patients in northern Taiwan born after 1970.

Procedure: One-hundred and sixty patients with beta-thalassemia major born after 1970 were collected.

Impact of a national beta-thalassemia carrier screening program on the birth rate of thalassemia major.

Background: In Taiwan, the prevalence of beta-thalassemia trait is at least 1.1%. The Taiwan government initiated a National Screening Program in 1993.

Hypogonadotropic hypogonadism and hematologic phenotype in patients with transfusion-dependent beta-thalassemia.

Objective: To determine the prevalence and risk factors of hypogonadotropic hypogonadism in transfusion-dependent patients with thalassemia.

Patients And Methods: The authors examined 29 patients with thalassemia major aged 15 years or older. Luteinizing hormone-releasing hormone tests were performed and beta-thalassemia mutations were analyzed by direct sequencing.

Severe bacterial infection in transfusion-dependent patients with thalassemia major.

The incidence and clinical spectrum of severe bacterial infection were studied in 89 patients with thalassemia major that was diagnosed between January 1971 and March 2002. There were 20 patients with 24 episodes of severe bacterial infection, resulting in an incidence of 1.6 infections per 100 patient-years.

Hypoparathyroidism in transfusion-dependent patients with beta-thalassemia.

Purpose: To determine the prevalence of hypoparathyroidism in transfusion-dependent patients with beta-thalassemia.

Patients And Methods: A total of 28 transfusion-dependent patients with beta-thalassemia were interviewed, and their serum calcium, phosphate, magnesium, and intact parathyroid hormone levels were checked. Serum ferritin levels were measured to monitor the effect of chelation therapy.