Premarital screening for beta-thalassaemia in Southern Iran: options for improving the programme.

BACKGROUND: beta-thalassaemia is a preventable disease. Iran has about 20,000 homozygote beta-thalassaemia patients and 3,750,000 carriers. OBJECTIVE: To assess the 10-year results of the screening programme, which has been operating in Southern Iran since 1995. METHODS: All couples wanting to marry were required to be checked for beta-thalassaemia by their red blood cell indices in order to receive a permit for marriage registration. The results were reported to the nearest counselling team. If the results were conspicuous, haemoglobin A(2)(HbA(2)) and, in some subjects, Hb electrophoresis was performed. Couples in which both partners were carriers received counselling. For those who, in spite of the recommendation, decided to marry, prenatal diagnosis and termination of pregnancy in case of an affected fetus was offered. The latter was offered only in the last three years. RESULTS: In 1995, 1999 and 2004, 296, 94 and 56 beta-thalassaemia homozygotes, respectively, were born (2.53, 1.07 and 0.82 patients per 1000 births). DISCUSSION: This programme has decreased the birth prevalence of beta-thalassaemia, but has unfortunately not eliminated the disease altogether. The reasons for the birth of new cases, in spite of the screening programmes, are: (i) premarital screening programme started in 1995; therefore, carrier couples who married before this did not receive counselling and gave birth to homozygote beta-thalassaemia children; (ii) unwanted pregnancy among the carrier couples; (iii) the couples knew about their problem, but they married for cultural and religious causes (illegal marriages).

Magnetic resonance imaging (MRI) findings of joints in young beta-thalassemia major patients: fluid surrounding the scaphoid bone: a novel finding, as the possible effect of secondary hemochromatosis.

BACKGROUND: Beta-thalassemia major is a hereditary disease with developing hemochromatosis as a consequence of repeated blood transfusions. Degenerative arthropathy may be the first manifestation of primary hemochromatosis. OBJECTIVE: The aim of this study is to determine the possible effects of secondary hemochromatosis in joints of beta-thalassemia major patients, and to evaluate the sensitivity of magnetic resonance imaging (MRI) compared with plain x-ray, in the early diagnosis of hemochromatosis of the joints. METHODS: Thirty beta-thalassemia major patients were randomly enrolled. A questionnaire regarding their history, careful physical examination, the result of their liver biopsies, and other necessary information were completed for these patients. X-ray and MRI of the left hand and wrist were taken in these patients and also in other 30 healthy people with the same age and sex as the case control group. RESULTS: The prevalence of minimal fluid surrounding the scaphoid bone in MRI was 23.3%, which is a novel and significant finding. Other interesting changes included hypo signal intensity (T1 and T2) in carpal, metacarpal, radius, and ulna bones. CONCLUSIONS: Regarding the availability of special health services for thalassemia patients, this imaging study can be used for the accurate detection of hemochromatosis in joints of thalassemia patients.