Between January 1985 and June 1992, the Paediatric Department of Hospital Universiti Sains Malaysia has diagnosed congenital dyserythropoietic anaemia in three children, two of whom were siblings. The age of onset ranged from 1 to 3 years. All of them became transfusion-dependent before the age of 4 months. One of them was successfully treated with bone marrow transplantation.
This prospective study was performed to quantify glucose-6-phosphate dehydrogenase (G6PD) enzyme activity in deficient males and female heterozygotes. The methods used in the study were the fluorescent spot test, G6PD enzyme electrophoresis on cellulose acetate and quantitative assays. Forty-seven children who had been detected as spot screen deficient at birth were rescreened. Their first degree relatives were also included in the study. The mean enzyme activity of deficient males was 0.74 iu/g Hb (s.d. +/- 0.8), of female heterozygotes was 6.5 iu/g Hb (s.d. +/- 3.2) and of normal males was 12.1 iu/g Hb (s.d. +/- 3.5). The mean activity in deficient males was 6.1% of normal males. Most (35 of 47) of these fell into class 2 in Beutler's classification of G6PD variants. This indicates a population which may be susceptible to favism. Female heterozygotes had an intermediate enzyme activity with a wide scatter. Using a cut off point of enzyme activity of below 9.0 iu/g Hb gave sensitivity and specificity of 87% and 84% in detecting female heterozygotes. This group could be defined more accurately by combining quantitative assays with family studies.
Pre-menopausal women have a lower risk of cardiovascular disease compared to post-menopausal women. Cardiovascular disease is more age dependent in women than in men. The association of platelet activation and cardiovascular thrombotic events is well established. Standardized techniques were used to evaluate platelet activation markers by flow cytometry, using 3-color analysis (CD 61PerCP, CD 62P, and PAC-1) in 49 post-menopausal (mean +/- SD age, 56.16 +/- 33.51 years) and 42 pre-menopausal (age, 39.38 +/- 7.07 years) women. Results of our study showed a significant increase in CD 62P in post-menopausal women as compared to the pre-menopausal group (2.66 +/- 4.26% vs. 0.52 +/- 2.71%, P < 0.001). Similarly, PAC-1 was significantly increased in post-menopausal women (21.54 +/- 2.48% vs. 3.70 +/- 2.31%, P < 0.001). Furthermore, there was a significant association of CD 62P with serum estradiol in both groups. PAC-1 was significantly associated with age in both groups. The results suggest the role of platelets in the increased incidence of thrombotic events and disease in post-menopausal women.
The effect of HbE, a hemoglobin variant, on the determination of HbA1/HbA1c using 4 commercial kits based on cation-exchange resin, cation-exchange column chromatography and specific antibody techniques was studied. Fifty-eight normal and 63 HbE heterozygous subjects were tested for HbA1 and HbA1c using 4 commercial kits i.e. Eagles Diagnostics, Boehringer Mannehim (BM), Diastat and Ames DCA 2000. Analyses of the samples by the 4 kits were done within one week and samples were stored at 4 degrees C before analysis. The results showed that HbE affects the determination of glycosylated hemoglobin using cation-exchange based and not kits based on specific antibody techniques.