A new single nucleotide change at the initiation codon (ATG----AGG) identified in amplified genomic DNA of a Chinese beta-thalassemic patient.
Explore the source record for details and available documents.
Base Sequence↗
Biomedical subjects
A M Li
Publications and source records attributed to A M Li.
Anaemia and thalassaemia in healthy adolescents from southern Chinese families.
A study was conducted on 447 healthy high school students of southern Chinese descent to determine the prevalence of anaemia and thalassaemia. Haematological data and serum ferritin levels were determined on all venous blood samples. Haemoglobin (Hb) electrophoretic study was conducted on 43 students who had anaemia (Hb less than 12 g/dL), and/or mean corpuscular volume (MCV) less than 80 fL. They were re-assessed after 1 month of oral iron therapy. Three girls had definite iron deficient anaemia (less than 1%). Thirty-nine students had either alpha, or beta-thalassaemia, only seven of whom showed anaemia. Since the overwhelming majority of both the thalassaemic students (38 of 39) and the participants (429 of 447) were of Cantonese extraction (native of Guangdong province), the overall incidence of 8.8% (alpha-thalassaemia 5.4%, beta-thalassaemia 3.4%) reflected the high frequency of the thalassaemia gene among this group of southern Chinese. MCV measurement, rather than Hb, was more useful in its detection.
Adolescent↗
Cerebral thrombosis in beta-thalassemia/hemoglobin E disease.
We describe two Chinese patients with beta-thalassemia/hemoglobin E disease who developed cerebral infarction due to occlusion or stenosis of their extracranial carotid arteries. The roles of platelet abnormalities and other factors in this condition are discussed.
Adult↗
Left ventricular function in beta thalassaemia major.
The left ventricular dimension and posterior wall dynamics were studied by computer assisted analysis of M mode echocardiography in 25 normal children (group 1) and 32 transfusion dependent children with beta thalassaemia major who had no evidence of heart failure (group 2). Twenty seven of those in group 2 remained well but five died of cardiac decompensation within 12 months. Compared with group 1, the left ventricular fractional shortening and ejection fraction were normal in those in group 2 who survived but diminished in those who died. Evaluation of left ventricular dimension and posterior wall dynamics during systole (peak shortening rate, peak velocity of circumferential fibre shortening, and peak posterior wall thickening rate) showed similar findings in that only the group who died had abnormal values. The left ventricular dimension and posterior wall diastolic dynamics (peak relaxation rate, normalised peak relaxation, peak wall thinning, and normalised peak wall thinning rate), however, showed progressively slower rates in all the children in group 2. The findings suggest that left ventricular diastolic dysfunction occurs early in myocardial impairment in patients with beta thalassaemia major. When there are abnormalities in both diastole and systole, the myocardial impairment is advanced and the prognosis is poor.
Adolescent↗
Molecular characterization of beta-globin gene mutations in patients with beta-thalassaemia intermedia in south China.
We have studied the spectrum of mutations producting beta-thalassaemia intermedia in South China. The methods of mutation detection include oligonucleotide analysis, polymerase chain reaction amplification of the beta-globin gene and direct genomic sequencing. The mutations have been identified in 22 beta-globin genes from the patients in 11 unrelated families. Seven different mutations have been identified and the A to G substitution in the TATA box of the beta-globin gene accounts for 42% of these mutant beta-globin genes. Most patients have a beta(+) thalassaemia and one copy of the TATA box mutation. In two patients with beta(0) thalassaemia intermedia the mild phenotype may be explained in one by the presence of the - + - + + 5' beta-globin gene cluster haplotype which contains the Xmn I site -158 nt to the G gamma-globin gene or in the other by the number of alpha-globin genes present.
Base Sequence↗
Growth and development in patients with homozygous beta-thalassemia in Hong Kong.
Explore the source record for details and available documents.
Age Determination by Skeleton↗
The screening of Chinese cord blood for haemoglobinopathies.
The frequency of haemoglobinopathies among the Hong Kong Chinese newborn was examined by screening 932 consecutive cord blood samples by electrophoresis. The findings indicate that 49 (5.2%) had electrophoretic abnormalities, of which 39 (4.2%) demonstrated the presence of Hb Bart's. 14 of these 39 babies were re-investigated after 1 year and all were proven to carry the alpha-thalassaemia gene. This is the first study in which Chinese babies with Hb Bart's in cord blood had the diagnosis of alpha-thalassaemia trait confirmed in later life. 3 out of 4 other babies had different haemoglobin variants, namely Hb alpha Q, Hb J and Hb New York. 1 out of the 6 babies who had elevated A2 levels at birth was found to carry the beta-thalassaemia trait. None had a serious haemoglobinopathy.
China↗
Epidemiological aspects of neonatal jaundice in Chinese infants.
A study of 200 full-term Chinese newborns within a twelve months period has not demonstrated any significant effect of early immunizations on the incidence of neonatal jaundice in the first seven days of life. Study of cord serum immunoglobulin M (IgM) levels has also failed to establish an association between raised IgM levels with more severe degrees of jaundice. The significantly higher serum bilirubin levels seen in normal Chinese neonates cannot be attributed to infection, either natural or attenuated, and further investigations are indicated.
Bilirubin↗
Hurler's syndrome with cor pulmonale secondary to obstructive sleep apnoea treated by continuous positive airway pressure.
A 6-year-old boy with Hurler's syndrome presented with right heart failure and pulmonary hypertension secondary to severe obstructive sleep apnoea. Both his sleep apnoea and cor pulmonale were effectively controlled with continuous positive airway pressure therapy.
Child↗
Severe acute respiratory syndrome: 'SARS' or 'not SARS'.
Accurate clinical diagnosis of severe acute respiratory syndrome (SARS) based on the current World Health Organization definition is difficult and at times impossible at the early stage of the disease. Both false positive and false negative cases are commonly encountered and this could have far-reaching detrimental effects on the patients, their family and the clinicians alike. Contact history is particularly important in diagnosing SARS in children as their presenting features are often non-specific. The difficulty in making a correct diagnosis is further compounded by the lack of a sensitive rapid diagnostic test. Serology is not particularly helpful in the initial triaging of patients as it takes at least 3 weeks to become positive. Co-infection and other treatable conditions should not be missed and conventional antibiotics should remain as part of the first-line treatment regimen. We report five cases to illustrate the difficulties and dilemmas faced by clinicians in diagnosing SARS in children.
Adolescent↗