How early can myocardial iron overload occur in Beta thalassemia major?

BACKGROUND: Myocardial siderosis is the most common cause of death in patients with beta thalassemia major(TM). This study aimed at investigating the occurrence, prevalence and severity of cardiac iron overload in a young Chinese population with beta TM. METHODS AND RESULTS: We analyzed T2* cardiac magnetic resonance (CMR), left ventricular ejection fraction (LVEF) and serum ferritin (SF) in 201 beta TM patients. The median age was 9 years old. Patients received an average of 13 units of blood per year. The median SF level was 4536 ng/ml and 165 patients (82.1%) had SF>2500 ng/ml. Myocardial iron overload was detected in 68 patients (33.8%) and severe myocardial iron overload was detected in 26 patients (12.6%). Twenty-two patients ≤10 years old had myocardial iron overload, three of whom were only 6 years old. No myocardial iron overload was detected under the age of 6 years. Median LVEF was 64% (measured by CMR in 175 patients). Five of 6 patients with a LVEF<56% and 8 of 10 patients with cardiac disease had myocardial iron overload. CONCLUSIONS: The TM patients under follow-up at this regional centre in China patients are younger than other reported cohorts, more poorly-chelated, and have a high burden of iron overload. Myocardial siderosis occurred in patients younger than previously reported, and was strongly associated with impaired LVEF and cardiac disease. For such poorly-chelated TM patients, our data shows that the first assessment of cardiac T2* should be performed as early as 6 years old

Public perceptions and attitudes toward thalassaemia: Influencing factors in a multi-racial population

<p>Abstract</p> <p>Background</p> <p>Thalassaemia is a common public health problem in Malaysia and about 4.5 to 6% of the Malays and Chinese are carriers of this genetic disorder. The major forms of thalassaemia result in death <it>in utero </it>of affected foetuses (α-thalassaemia) or life-long blood transfusions for survival in β-thalassaemia. This study, the first nationwide population based survey of thalassaemia in Malaysia, aimed to determine differences in public awareness, perceptions and attitudes toward thalassaemia in the multi-racial population in Malaysia.</p> <p>Methods</p> <p>A cross-sectional computer-assisted telephone interview survey of a representative sample of multi-racial Malaysians aged 18 years and above was conducted between July and December 2009.</p> <p>Results</p> <p>Of a total of 3723 responding households, 2846 (76.4%) have heard of thalassaemia. Mean knowledge score was 11.85 (SD ± 4.03), out of a maximum of 21, with higher scores indicating better knowledge. Statistically significant differences (<it>P </it>< 0.05) in total knowledge score by age groups, education attainment, employment status, and average household income were observed. Although the majority expressed very positive attitudes toward screening for thalassaemia, only 13.6% of married participants interviewed have been screened for thalassaemia. The majority (63.4%) were unsupportive of selective termination of foetuses diagnosed with thalassaemia major.</p> <p>Conclusion</p> <p>Study shows that carrier and premarital screening programs for thalassaemia may be more effective and culturally acceptable in the reduction of pregnancies with thalassaemia major. The findings provide insights into culturally congruent educational interventions to reach out diverse socio-demographic and ethnic communities to increase knowledge and cultivate positive attitudes toward prevention of thalassaemia.</p

Falling prevalence of beta-thalassaemia and eradication of malaria in the Maldives

Carriers of haemoglobin disorders have protection against falciparum malaria. Therefore, where this is common, carrier prevalence rises until this selective advantage is offset by deaths of affected children. Theory predicts a corresponding fall in carrier frequency following malaria eradication, but this has not been reported in practice. In the Maldives, malaria eradication (in 1972-1975) unmasked highly prevalent beta-thalassaemia and led to services for patient care and outreach carrier screening. Analysis of 68,986 laboratory screening records for subjects born between 1960 and 1990 showed carrier prevalences ranging from 10.1% to 28.2% by atoll (related to the prevalence of falciparum malaria before eradication) and a steady fall in average carrier prevalence from 21.3% among those born in 1970 to 16% in those born in 1989. Data for individuals born before 1970 suggest that earlier, when malaria was uncontrolled, carrier prevalence was 23-25%. The observed fall in carrier prevalence was broadly consistent with a model based on genetic theory, allowing for the heterogeneous distribution of carrier prevalence and the potential contribution of consanguineous marriage. The possible effects of population mixing and reproductive compensation were calculated, and any contribution to falling carrier prevalence was excluded. It is concluded that the observed fall in thalassaemia carrier prevalence in the Maldives is consistent with the predicted effect of malaria eradication and supportive of the population genetic theory. The observed fall in average carrier prevalence corresponds to a fall in minimum affected birth prevalence from approximately 12/1,000 in 1970 to approximately 6.9/1,000 in 2007. Allowing for this effect, the National Thalassaemia Register has documented a more than 60% fall in affected birth prevalence since outreach population screening was established in 1997. The main contributing factors are considered to be limitation of final family size by informed at-risk couples and utilisation of prenatal diagnosis