We report a live birth from a couple with two genetic diseases, namely: reciprocal translocation carrier and alpha-thalassaemia trait, following pre-implantation genetic diagnostic tests. This is the first case in Hong Kong in which the technique of using one blastomere biopsy for two diseases was established, using array comparative genomic hybridisation and polymerase chain reaction.

The relevant investigations and management of a case of alpha-thalassaemia major suspected antenatally is discussed. The value of ultrasonically guided cordocentesis in the definite diagnosis of this condition is emphasised in the management of this pregnancy. We believe that this is the first time such a procedure has been done in this country.

Mutations in the chromatin-remodeling protein ATRX cause alpha thalassaemia and mental retardation, but the severity of the disorder is independent of the specific mutation. In this issue of Cell, Law et al. (2010) demonstrate that ATRX alters gene expression by binding to G-rich tandem repeats, and the degree of transcriptional silencing caused by ATRX mutations correlates with the number of r...

In Southeast Asia α-thalassaemia, β-thalassaemia, haemoglobin (Hb) E and Hb Constant Spring (CS) are prevalent. The abnormal genes in different combinations lead to over 60 different thalassaemia syndromes, making Southeast Asia the locality with the most complex thalassaemia genotypes. The four major thalassaemic diseases are Hb Bart's hydrops fetalis (homozygous α-thalassaemia 1), homozygous ...

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Beta-thalassaemia is a hereditary defect in the synthesis of beta-polypeptide chains of haemoglobin. Most patients with beta-thalassaemia can be classified, both genetically and haematologically, into those with the homozygous form of the disease, and those with the heterozygous disease or thalassaemia minor. However, in clinical practice one occasionally encounters a patient with thalassaemia ...

Beta-thalassaemia is a hereditary defect in the synthesis of beta-polypeptide chains of haemoglobin. Most patients with beta-thalassaemia can be classified, both genetically and haematologically, into those with the homozygous form of the disease, and those with the heterozygous disease or thalassaemia minor. However, in clinical practice one occasionally encounters a patient with thalassaemia ...

A simple, fast, and reliable two step procedure for the detection of non-alpha-thalassaemias in mass screening programmes is presented. Step 1 consists of a study of red cell morphology and a one tube red cell osmotic fragility tests. This step eliminates the non-thalassaemic samples; the rest are processed through step 2, consisting of determination of red cell indices and haemoglobin studies....