Thalassaemia is the most common inherited blood disorder in Malaysia, and majority of patients are from Sabah. The disease itself poses significant morbidities, its management costly. Previous studies showed increased caries prevalence among these attributed to possible changes saliva properties. objective was investigate properties with thalassaemia compared healthy individuals.

Genetic disorders of haemoglobin (haemoglobinopathies), including the thalassaemias and sickle cell anaemia, abound in historically malarious regions, due to the protection they provide against death from severe malaria. Despite the overall spatial correlation between malaria and these disorders, inter-population differences exist in the precise combinations of haemoglobinopathies observed. Gre...

ATR-X syndrome is an X-linked mental retardation syndrome characterized by mental retardation, alpha thalassaemia and distinct facial features which include microcephaly, frontal hair upsweep, epicanthic folds, small triangular nose, midface hypoplasia and carp-shaped mouth. Here we report two brothers with clinical features of ATR-X syndrome, in whom a novel missense (C>T) mutation was identif...

OBJECTIVE To establish intrauterine diagnosis of thalassaemia major in couples with thalassaemia trait by chorionic villous sampling. METHODS A total of 60 couples with children suffering from transfusion dependent beta-thalassaemia or couples who were known carriers of beta-thalassaemia were included in this study. The standard procedure was followed for the collection of samples which was f...

Infection with HCV is a public health problem and is a leading cause of cirrhosis and liver cancer. 1 HCV infection has been reported in 4.4% to 85.4% of subjects with thalassaemia especially in patients transfused before 1992 when screening of blood donors was still not available. In Duhok city, Iraq, the screening for HCV was only started in 2007 and most of the subjects caught the infection ...

Haemoglobin components in 21 Liberians with Hb S beta +-thalassaemia and four with Hb C beta +-thalassaemia were measured to classify the forms of beta +-thalassaemia present in the population. In 20 Hb S and all Hb C beta +-thalassaemics the data were consistent with the interaction of these variants with the mild type 2 (Negro) form of beta +-thalassaemia. The data available were insufficient...

T.0b013e32835af7c1 Summary Aims: Classical carriers of b-thalassaemia are identified by a raised HbA2 level. Earlier studies indicated that the Filipino b-deletion has high raised HbA2 levels. The introduction of automated high performance liquid chromatography (HPLC) for thalassaemia screening is an important advance in technology for haematology laboratories. The BioRad Variant II Hb analyser...

We present the case of a 76-year-old male with history Type II diabetes presenting for routine HbA1c testing. The profile via capillary electrophoresis (CE) revealed presence an unknown haemoglobin peak 19.3% in Zone 1. Blood film showed microcytosis, hypochromia, poikilocytosis and red cell dimorphism. migrated HbH position on Sebia Capillarys3 Hemoglobin(E) program High Pressure Liquid Chroma...

Gene expression studies in mammals and simpler eukaryotes have highlighted the central role that chromatin structure and modifications play in both the activation and repression of transcription. Aberrant chromatin structure can cause human genetic disease. Here we discuss recent progress in understanding the molecular mechanisms that underlie three human genetic diseases linked to perturbation...