The thalassaemias are a major health problem, and approximately 1 in 14 of the population
are carriers for one of the sub types. For the purpose of prevention and control of clinically …

Background: β-thalassaemia is one of the most common single-gene disorders worldwide.
Each ethnic population has its own common mutations, accounting for the majority of cases …

Abstract β‐Thalassemia is a serious health problem in the United States, especially in
California, due to increased Asian immigration. Neonatal screening by using high …

Background: β-Thalassemia is endemic to many regions in Southeast Asia and India, and<
20 β-globin gene mutations account for≥ 90% of β-thalassemia alleles in these places. We …

Newborn screening is a systematic application of tests for early detection, diagnosis, and
treatment of certain genetic or metabolic disorders that can lead to mortality, morbidity, and …

Aims: In Malaysia, about 4.5% of the Malay and Chinese populations are heterozygous
carriers of β‐thalassaemia. The initial identification of rare β‐globin gene mutations by …

Abstract β-thalassaemia major, an autosomal recessive hemoglobinopathy, is one of the
most common single gene disorders in multi-racial Malaysia. The control of β-thalassaemia …

Background: The interaction of the non-deletional α+-thalassaemia mutations Haemoglobin
Constant Spring and Haemoglobin Quong Sze with the Southeast Asian double α-globin …

Defining the spectrum of specific thalassemia mutations is an important issue when planning
prevention programs in large multi ethnic countries as is Indonesia. In a first attempt to …

Background: Spinal muscular atrophy (SMA) is a common inherited and fatal neuromuscular
disease caused by deletions and/or mutations that lead to altered concentrations of proteins …