OBJECTIVE National audit of informed choice in antenatal screening for thalassaemia. DESIGN Audit from the UK Confidential Enquiry into Counselling for Genetic Disorders. SETTING Thalassaemia module of the UK Confidential Enquiry into Counselling for Genetic Disorders. SUBJECTS 138 of 156 couples who had had a pregnancy affected by a major beta thalassaemia from 1990 to 1994. MAIN OUTCO...

Families who were at risk of producing a child with thalassaemia major were studied to determine the sequential effects on their reproductive behaviour of knowing the risk and, subsequently, of knowing that antenatal diagnosis was available. Knowing the risk caused them virtually to stop reproduction and to seek termination of 70% of pregnancies, most of which were accidental. The introduction ...

The reproductive behaviour of couples with heterozygous beta thalassaemia, with at least one affected child, was investigated for the period 1955 to 1984 and was compared to the behaviour of control couples matched for age, age at marriage, and presence of at least one child. The comparisons were made as a function of knowledge of the risk and availability of prenatal diagnosis and abortion. It...

1Graduate School of Economics; 2Division of Environment and Resources, Institute of Economic Research, Kyoto University, Kyoto, Japan (Correspondence to N. Ghotbi: [email protected]). Received: 21/11/03; accepted: 08/12/03 ABSTRACT We reviewed the medical and economic burden of thalassaemia major with emphasis on prenatal diagnosis for disease prevention as the most economic health care policy...

The thalassaemias and sickle cell disease are the commonest monogenic disorders in India. There are an estimated 7500 - 12,000 babies with β-thalassaemia major born every year in the country. While the overall prevalence of carriers in different States varies from 1.5 to 4 per cent, recent work has shown considerable variations in frequencies even within States. Thus, micromapping would help to...

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 ...

The α-globin genes were studied in nine families with unexplained hypochromic anaemia and in 167 patients with HbE β thalassaemia in Sri Lanka. As well as the common deletion forms of α(+) thalassaemia three families from an ethnic minority were found to carry a novel form of α(0) thalassaemia, one family carried a previously reported form of α(0) thalassaemia, --(THAI), and five families had d...

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 ...