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Prevention of disease is always the goal. But how to prevent thalassemia?

Prevention is the only measure that can drastically reduce the incidences of severe hemoglobinopathies (blood disorders). Prevention is what allowed countries like Italy, Greece, and Cyprus to go from historically high rates of thalassemia to almost none. In affluent areas the prevention of thalassemia is largely dependent on prenatal care. If newly pregnant couples come in for prenatal care, tests for blood disorders like thalassemia are conducted, amongst many other crucial exams to ensure the growth of a healthy embryo. If the new pregnancy is tested positive for thalassemia parents are counseled on their options, including early termination. This form of screening and prevention has been very effective so that no more than 20-30 new births with thalassemia occur in Italy yearly as opposed to the expected several hundreds.
Hemoglobinopathies: Thalassemia is a one kind of hemoglobinopathy. Hemoglobinopathy is a kind of genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule. Hemoglobinopathies are inherited single-gene disorders; in most cases, they are inherited as autosomal co-dominant traits. Common hemoglobinopathies include sickle-cell disease. It is estimated that 7% of world's population (420 million) are carriers.
In addition to pre-natal screening, thalassemia can be prevented if both parities in a couple get tested for the possibility of being recessive thalassemia trait carriers before they decide to have children. This type of population-based screening may not be very effective because of cost and logistical issues in addition to resistance to undergo screening or, when screening is done, positive results may be ignored due to social stigma and fear of being perceived as "less fit". In populations were intermarriage (marriage between first cousins) is frequent, thalassemia genes tend to be trapped within extended families, and cascade screening (screening family members of a thalassemia patient) may be effective.1The latter approach has been used by the Cure2Children Foundation’s thalassemia cure and prevention network in Pakistan by which the offer of a cure by bone marrow transplantation (BMT) was used to engage families in cascade screening and prevention programs.
Of 1,637 individuals from known thalassemia carrier families offered free screening in Pakistan, only 705 (43%) accepted to undergo screening of whom 171 (24%) where identified as carriers. It is impossible, however, to say how many will eventually use this information and estimate its real impact on prevention. On the contrary, of 640 mothers with one or more thalassemic children engaged in the BMT program in Pakistan, 43 who had a subsequent pregnancy accepted the offer of free prenatal diagnosis and of the 34 for which the result is known, in 9 (26%) the fetus was positive for homozygous β-thalassemia.
A success in prevention, however, can be that none of the mothers with a first born child enrolled In the Cure2Children STOP Thalassemia center has a second children born with thalassemia.
Article by Lawrence Faulkner, Medical Coordinator, Cure2Children, Florence, Italy
1. Ahmed, S., Saleem, M., Modell, B. & Petrou, M. Screening extended families for genetic hemoglobin disorders in Pakistan. NEJM 347, 1162 – 1168 (2002).


Posted by: Cure2Children