Haemoglobin E (Hb E) is a variant of structurally abnormal haemoglobin that can be found very commonly in the Asian countries particularly the Southeast Asian [1]. [H1] Alpha thalassaemia is a red cell disorder which is caused by deletion or mutation of one or more of the four alpha globin genes leading to absence or decrease in production of alpha globin peptides [2]. This disorder is far more common in South East Asian regions and in Malaysia itself, and the gene frequency is about 4.1% [2]. The interactions of Hb E and alpha thalassaemia are evident in Kelantan which is bordered by southern Thailand. Using capillary electrophoresis (CE), a reduction of Hb E level is noticed as compared to Hb E heterozygotes. DNA analysis should be done to determine the presence of concurrent alpha thalassaemia variant. This study was done to evaluate haematological parameters using automated blood counters, morphology of red cells, Hb separation and quantitation of Hb fractions using CE and molecular analysis for alpha thalassemia. The study also aimed to discover cut off point of Hb E level in heterozygous Hb E patients with concurrent deletional alpha thalassaemia by CE.
Objectives: Chromosomal abnormalities especially aneuploidies are the most common etiology for pregnancy loss. Trisomy 13, trisomy 18 and trisomy 21 are the most common chromosome autosomal aneuploidies with trisomy 21 (Down syndrome) being the most common chromosomal abnormality among liveborn infants. In previous reports, we noted that the recurrence of these aneuploidies in some families may not occur by chance alone.
Methods: Extraction of relevant data from review of medical case notes of a young couple with two offspring with Down syndrome (DS) and Patau syndrome.
Results: A family history of DS is a predisposing factor for both DS and other types of aneuploidy. Certain instances of non-disjunction error are not random.
Conclusion: As the maternal age was not advanced in both pregnancies, there is a possibility that the recurrent aneuploidy in this family may not be accounted by chance alone. The risk of having subsequent affected pregnancy cannot be ignored in this family and prenatal diagnosis is strongly recommended in the subsequent pregnancy.