Thalassemia syndromes are one of well known hereditary hemolytic diseases and in terms of classification, it has been based on clinical and hematological indicators and abnormal biochemical findings, and in this regard, it creates confusing situations and requires a deep laboratory approach and analysis. And in terms of screening in high-prevalence communities, it requires precise and specific diagnostic algorithms that depend on factors such as race, consanguineous marriages, migrations, prevalence in malaria-prone areas, and the accuracy of laboratory techniques. Accurate interpretation of test results and definitive diagnosis of carriers and the borderline results due to technical diagnosis limitation and forbidden of termination of pregnancy due to legal and religious reason. marriage of carrier couples sometimes creates confusion for health center consultants and hematology specialists.
Many families are unable to meet the annual cost of about $ 3,200 for children with thalassemia. Therefore, this disease not only affects the family but also affects the health budget of high-prevalence countries. Therefore, preventing the birth of new cases is a priority in high-prevalence countries.
Genetic counseling, carrier screening, prenatal diagnosis, and termination of pregnancy of affected fetuses are included in these programs.
Accordingly, the National Committee for Prenatal Diagnosis of the Ministry of Health has issued guidelines for health center consultants to identify high-risk carrier couples and refer them to the relevant laboratories, and on the other hand, it evaluates the network laboratories by creating EQA programs.
In the following study, several challenging cases of suspected carrier couples are examined, with the hope that over time, as network laboratories encounter such challenging cases share and report these cases to the National Committee for Prenatal Diagnosis of the Ministry of Health, along with long-term follow-up of the children born to these families, the aforementioned committee's guidelines will be updated so that, in addition to observing professional ethics and legal considerations, the least financial and emotional pressure is placed on the family, society, consulting physicians, and laboratories providing these services.
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